Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 | |
18 | g.70059928A>C | CA402694614 | RTTN | c.4862T>G (p.Leu1621Trp) c.949T>G (p.Trp317Gly) n.2408T>G c.16T>G c.2261T>G (p.Leu754Trp) c.2214T>G (n.2214T>G) c.*3176T>G (n.*3176T>G) c.4143T>G (n.4143T>G) c.2126T>G (p.Leu709Trp) c.4865T>G (p.Leu1622Trp) c.4625T>G (p.Leu1542Trp) c.4436T>G (p.Leu1479Trp) c.3365T>G (p.Leu1122Trp) n.4903T>G c.4622T>G (p.Leu1541Trp) c.4223T>G (p.Leu1408Trp) c.3800T>G (p.Leu1267Trp) c.2756T>G (p.Leu919Trp) c.4085T>G (p.Leu1362Trp) n.4933T>G | |
18 | g.70059928A>G | CA402694616 | RTTN | c.4862T>C (p.Leu1621Ser) c.949T>C (p.Trp317Arg) n.2408T>C c.16T>C c.2261T>C (p.Leu754Ser) c.2214T>C (n.2214T>C) c.*3176T>C (n.*3176T>C) c.4143T>C (n.4143T>C) c.2126T>C (p.Leu709Ser) c.4865T>C (p.Leu1622Ser) c.4625T>C (p.Leu1542Ser) c.4436T>C (p.Leu1479Ser) c.3365T>C (p.Leu1122Ser) n.4903T>C c.4622T>C (p.Leu1541Ser) c.4223T>C (p.Leu1408Ser) c.3800T>C (p.Leu1267Ser) c.2756T>C (p.Leu919Ser) c.4085T>C (p.Leu1362Ser) n.4933T>C | |
18 | g.70059928A>T | CA402694618 | RTTN | c.4862T>A (p.Leu1621Ter) c.949T>A (p.Trp317Arg) n.2408T>A c.16T>A c.2261T>A (p.Leu754Ter) c.2214T>A (n.2214T>A) c.*3176T>A (n.*3176T>A) c.4143T>A (n.4143T>A) c.2126T>A (p.Leu709Ter) c.4865T>A (p.Leu1622Ter) c.4625T>A (p.Leu1542Ter) c.4436T>A (p.Leu1479Ter) c.3365T>A (p.Leu1122Ter) n.4903T>A c.4622T>A (p.Leu1541Ter) c.4223T>A (p.Leu1408Ter) c.3800T>A (p.Leu1267Ter) c.2756T>A (p.Leu919Ter) c.4085T>A (p.Leu1362Ter) n.4933T>A | |
18 | g.70059929A>C | CA402694622 | RTTN | c.4861T>G (p.Leu1621Val) c.948T>G (p.Ser316=) n.2407T>G c.15T>G c.2260T>G (p.Leu754Val) c.2213T>G (n.2213T>G) c.*3175T>G (n.*3175T>G) c.4142T>G (n.4142T>G) c.2125T>G (p.Leu709Val) c.4864T>G (p.Leu1622Val) c.4624T>G (p.Leu1542Val) c.4435T>G (p.Leu1479Val) c.3364T>G (p.Leu1122Val) n.4902T>G c.4621T>G (p.Leu1541Val) c.4222T>G (p.Leu1408Val) c.3799T>G (p.Leu1267Val) c.2755T>G (p.Leu919Val) c.4084T>G (p.Leu1362Val) n.4932T>G | |
18 | g.70059929A>G | CA504323421 | RTTN | c.4861T>C (p.Leu1621=) c.948T>C (p.Ser316=) n.2407T>C c.15T>C c.2260T>C (p.Leu754=) c.2213T>C (n.2213T>C) c.*3175T>C (n.*3175T>C) c.4142T>C (n.4142T>C) c.2125T>C (p.Leu709=) c.4864T>C (p.Leu1622=) c.4624T>C (p.Leu1542=) c.4435T>C (p.Leu1479=) c.3364T>C (p.Leu1122=) n.4902T>C c.4621T>C (p.Leu1541=) c.4222T>C (p.Leu1408=) c.3799T>C (p.Leu1267=) c.2755T>C (p.Leu919=) c.4084T>C (p.Leu1362=) n.4932T>C | |
18 | g.70059929A>T | CA402694624 | RTTN | c.4861T>A (p.Leu1621Met) c.948T>A (p.Ser316=) n.2407T>A c.15T>A c.2260T>A (p.Leu754Met) c.2213T>A (n.2213T>A) c.*3175T>A (n.*3175T>A) c.4142T>A (n.4142T>A) c.2125T>A (p.Leu709Met) c.4864T>A (p.Leu1622Met) c.4624T>A (p.Leu1542Met) c.4435T>A (p.Leu1479Met) c.3364T>A (p.Leu1122Met) n.4902T>A c.4621T>A (p.Leu1541Met) c.4222T>A (p.Leu1408Met) c.3799T>A (p.Leu1267Met) c.2755T>A (p.Leu919Met) c.4084T>A (p.Leu1362Met) n.4932T>A | |
18 | g.70059930G>A | CA504323422 | RTTN | c.4860C>T (p.Leu1620=) c.947C>T (p.Ser316Phe) n.2406C>T c.14C>T c.2259C>T (p.Leu753=) c.2212C>T (n.2212C>T) c.*3174C>T (n.*3174C>T) c.4141C>T (n.4141C>T) c.2124C>T (p.Leu708=) c.4863C>T (p.Leu1621=) c.4623C>T (p.Leu1541=) c.4434C>T (p.Leu1478=) c.3363C>T (p.Leu1121=) n.4901C>T c.4620C>T (p.Leu1540=) c.4221C>T (p.Leu1407=) c.3798C>T (p.Leu1266=) c.2754C>T (p.Leu918=) c.4083C>T (p.Leu1361=) n.4931C>T | |
18 | g.70059930G>C | CA504323423 | RTTN | c.4860C>G (p.Leu1620=) c.947C>G (p.Ser316Cys) n.2406C>G c.14C>G c.2259C>G (p.Leu753=) c.2212C>G (n.2212C>G) c.*3174C>G (n.*3174C>G) c.4141C>G (n.4141C>G) c.2124C>G (p.Leu708=) c.4863C>G (p.Leu1621=) c.4623C>G (p.Leu1541=) c.4434C>G (p.Leu1478=) c.3363C>G (p.Leu1121=) n.4901C>G c.4620C>G (p.Leu1540=) c.4221C>G (p.Leu1407=) c.3798C>G (p.Leu1266=) c.2754C>G (p.Leu918=) c.4083C>G (p.Leu1361=) n.4931C>G | |
18 | g.70059930G>T | CA504323424 | RTTN | c.4860C>A (p.Leu1620=) c.947C>A (p.Ser316Tyr) n.2406C>A c.14C>A c.2259C>A (p.Leu753=) c.2212C>A (n.2212C>A) c.*3174C>A (n.*3174C>A) c.4141C>A (n.4141C>A) c.2124C>A (p.Leu708=) c.4863C>A (p.Leu1621=) c.4623C>A (p.Leu1541=) c.4434C>A (p.Leu1478=) c.3363C>A (p.Leu1121=) n.4901C>A c.4620C>A (p.Leu1540=) c.4221C>A (p.Leu1407=) c.3798C>A (p.Leu1266=) c.2754C>A (p.Leu918=) c.4083C>A (p.Leu1361=) n.4931C>A | |
18 | g.70059931A>C | CA402694628 | RTTN | c.4859T>G (p.Leu1620Arg) c.946T>G (p.Ser316Ala) n.2405T>G c.13T>G c.2258T>G (p.Leu753Arg) c.2211T>G (n.2211T>G) c.*3173T>G (n.*3173T>G) c.4140T>G (n.4140T>G) c.2123T>G (p.Leu708Arg) c.4862T>G (p.Leu1621Arg) c.4622T>G (p.Leu1541Arg) c.4433T>G (p.Leu1478Arg) c.3362T>G (p.Leu1121Arg) n.4900T>G c.4619T>G (p.Leu1540Arg) c.4220T>G (p.Leu1407Arg) c.3797T>G (p.Leu1266Arg) c.2753T>G (p.Leu918Arg) c.4082T>G (p.Leu1361Arg) n.4930T>G | |
18 | g.70059931A>G | CA402694630 | RTTN | c.4859T>C (p.Leu1620Pro) c.946T>C (p.Ser316Pro) n.2405T>C c.13T>C c.2258T>C (p.Leu753Pro) c.2211T>C (n.2211T>C) c.*3173T>C (n.*3173T>C) c.4140T>C (n.4140T>C) c.2123T>C (p.Leu708Pro) c.4862T>C (p.Leu1621Pro) c.4622T>C (p.Leu1541Pro) c.4433T>C (p.Leu1478Pro) c.3362T>C (p.Leu1121Pro) n.4900T>C c.4619T>C (p.Leu1540Pro) c.4220T>C (p.Leu1407Pro) c.3797T>C (p.Leu1266Pro) c.2753T>C (p.Leu918Pro) c.4082T>C (p.Leu1361Pro) n.4930T>C | |
18 | g.70059931A>T | CA402694633 | RTTN | c.4859T>A (p.Leu1620His) c.946T>A (p.Ser316Thr) n.2405T>A c.13T>A c.2258T>A (p.Leu753His) c.2211T>A (n.2211T>A) c.*3173T>A (n.*3173T>A) c.4140T>A (n.4140T>A) c.2123T>A (p.Leu708His) c.4862T>A (p.Leu1621His) c.4622T>A (p.Leu1541His) c.4433T>A (p.Leu1478His) c.3362T>A (p.Leu1121His) n.4900T>A c.4619T>A (p.Leu1540His) c.4220T>A (p.Leu1407His) c.3797T>A (p.Leu1266His) c.2753T>A (p.Leu918His) c.4082T>A (p.Leu1361His) n.4930T>A | gnomAD v4 |
18 | g.70059932G>A | CA402694639 | RTTN | c.4858C>T (p.Leu1620Phe) c.945C>T (p.Ala315=) n.2404C>T c.12C>T c.2257C>T (p.Leu753Phe) c.2210C>T (n.2210C>T) c.*3172C>T (n.*3172C>T) c.4139C>T (n.4139C>T) c.2122C>T (p.Leu708Phe) c.4861C>T (p.Leu1621Phe) c.4621C>T (p.Leu1541Phe) c.4432C>T (p.Leu1478Phe) c.3361C>T (p.Leu1121Phe) n.4899C>T c.4618C>T (p.Leu1540Phe) c.4219C>T (p.Leu1407Phe) c.3796C>T (p.Leu1266Phe) c.2752C>T (p.Leu918Phe) c.4081C>T (p.Leu1361Phe) n.4929C>T | |
18 | g.70059932G>C | CA402694641 | RTTN | c.4858C>G (p.Leu1620Val) c.945C>G (p.Ala315=) n.2404C>G c.12C>G c.2257C>G (p.Leu753Val) c.2210C>G (n.2210C>G) c.*3172C>G (n.*3172C>G) c.4139C>G (n.4139C>G) c.2122C>G (p.Leu708Val) c.4861C>G (p.Leu1621Val) c.4621C>G (p.Leu1541Val) c.4432C>G (p.Leu1478Val) c.3361C>G (p.Leu1121Val) n.4899C>G c.4618C>G (p.Leu1540Val) c.4219C>G (p.Leu1407Val) c.3796C>G (p.Leu1266Val) c.2752C>G (p.Leu918Val) c.4081C>G (p.Leu1361Val) n.4929C>G | |
18 | g.70059932G>T | CA402694643 | RTTN | c.4858C>A (p.Leu1620Ile) c.945C>A (p.Ala315=) n.2404C>A c.12C>A c.2257C>A (p.Leu753Ile) c.2210C>A (n.2210C>A) c.*3172C>A (n.*3172C>A) c.4139C>A (n.4139C>A) c.2122C>A (p.Leu708Ile) c.4861C>A (p.Leu1621Ile) c.4621C>A (p.Leu1541Ile) c.4432C>A (p.Leu1478Ile) c.3361C>A (p.Leu1121Ile) n.4899C>A c.4618C>A (p.Leu1540Ile) c.4219C>A (p.Leu1407Ile) c.3796C>A (p.Leu1266Ile) c.2752C>A (p.Leu918Ile) c.4081C>A (p.Leu1361Ile) n.4929C>A | |
18 | g.70059933G>A | CA504323425 | RTTN | c.4857C>T (p.Ser1619=) c.944C>T (p.Ala315Val) n.2403C>T c.11C>T c.2256C>T (p.Ser752=) c.2209C>T (n.2209C>T) c.*3171C>T (n.*3171C>T) c.4138C>T (n.4138C>T) c.2121C>T (p.Ser707=) c.4860C>T (p.Ser1620=) c.4620C>T (p.Ser1540=) c.4431C>T (p.Ser1477=) c.3360C>T (p.Ser1120=) n.4898C>T c.4617C>T (p.Ser1539=) c.4218C>T (p.Ser1406=) c.3795C>T (p.Ser1265=) c.2751C>T (p.Ser917=) c.4080C>T (p.Ser1360=) n.4928C>T | gnomAD v4 |
18 | g.70059933G>C | CA402694647 | RTTN | c.4857C>G (p.Ser1619Arg) c.944C>G (p.Ala315Gly) n.2403C>G c.11C>G c.2256C>G (p.Ser752Arg) c.2209C>G (n.2209C>G) c.*3171C>G (n.*3171C>G) c.4138C>G (n.4138C>G) c.2121C>G (p.Ser707Arg) c.4860C>G (p.Ser1620Arg) c.4620C>G (p.Ser1540Arg) c.4431C>G (p.Ser1477Arg) c.3360C>G (p.Ser1120Arg) n.4898C>G c.4617C>G (p.Ser1539Arg) c.4218C>G (p.Ser1406Arg) c.3795C>G (p.Ser1265Arg) c.2751C>G (p.Ser917Arg) c.4080C>G (p.Ser1360Arg) n.4928C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.70059933G= | CA2311957293 | RTTN | c.4857C= (p.Ser1619=) c.944C= (p.Ala315=) n.2403C= c.11C= c.2256C= (p.Ser752=) c.2209C= (n.2209C=) c.*3171C= (n.*3171C=) c.4138C= (n.4138C=) c.2121C= (p.Ser707=) c.4860C= (p.Ser1620=) c.4620C= (p.Ser1540=) c.4431C= (p.Ser1477=) c.3360C= (p.Ser1120=) n.4898C= c.4617C= (p.Ser1539=) c.4218C= (p.Ser1406=) c.3795C= (p.Ser1265=) c.2751C= (p.Ser917=) c.4080C= (p.Ser1360=) n.4928C= | |
18 | g.70059933G>T | CA402694645 | RTTN | c.4857C>A (p.Ser1619Arg) c.944C>A (p.Ala315Asp) n.2403C>A c.11C>A c.2256C>A (p.Ser752Arg) c.2209C>A (n.2209C>A) c.*3171C>A (n.*3171C>A) c.4138C>A (n.4138C>A) c.2121C>A (p.Ser707Arg) c.4860C>A (p.Ser1620Arg) c.4620C>A (p.Ser1540Arg) c.4431C>A (p.Ser1477Arg) c.3360C>A (p.Ser1120Arg) n.4898C>A c.4617C>A (p.Ser1539Arg) c.4218C>A (p.Ser1406Arg) c.3795C>A (p.Ser1265Arg) c.2751C>A (p.Ser917Arg) c.4080C>A (p.Ser1360Arg) n.4928C>A | |
18 | g.70059934C>A | CA402694651 | RTTN | c.4856G>T (p.Ser1619Ile) c.943G>T (p.Ala315Ser) n.2402G>T c.10G>T c.2255G>T (p.Ser752Ile) c.2208G>T (n.2208G>T) c.*3170G>T (n.*3170G>T) c.4137G>T (n.4137G>T) c.2120G>T (p.Ser707Ile) c.4859G>T (p.Ser1620Ile) c.4619G>T (p.Ser1540Ile) c.4430G>T (p.Ser1477Ile) c.3359G>T (p.Ser1120Ile) n.4897G>T c.4616G>T (p.Ser1539Ile) c.4217G>T (p.Ser1406Ile) c.3794G>T (p.Ser1265Ile) c.2750G>T (p.Ser917Ile) c.4079G>T (p.Ser1360Ile) n.4927G>T | |
18 | g.70059934C= | CA2311957294 | RTTN | c.4856G= (p.Ser1619=) c.943G= (p.Ala315=) n.2402G= c.10G= c.2255G= (p.Ser752=) c.2208G= (n.2208G=) c.*3170G= (n.*3170G=) c.4137G= (n.4137G=) c.2120G= (p.Ser707=) c.4859G= (p.Ser1620=) c.4619G= (p.Ser1540=) c.4430G= (p.Ser1477=) c.3359G= (p.Ser1120=) n.4897G= c.4616G= (p.Ser1539=) c.4217G= (p.Ser1406=) c.3794G= (p.Ser1265=) c.2750G= (p.Ser917=) c.4079G= (p.Ser1360=) n.4927G= | |
18 | g.70059934C>G | CA402694656 | RTTN | c.4856G>C (p.Ser1619Thr) c.943G>C (p.Ala315Pro) n.2402G>C c.10G>C c.2255G>C (p.Ser752Thr) c.2208G>C (n.2208G>C) c.*3170G>C (n.*3170G>C) c.4137G>C (n.4137G>C) c.2120G>C (p.Ser707Thr) c.4859G>C (p.Ser1620Thr) c.4619G>C (p.Ser1540Thr) c.4430G>C (p.Ser1477Thr) c.3359G>C (p.Ser1120Thr) n.4897G>C c.4616G>C (p.Ser1539Thr) c.4217G>C (p.Ser1406Thr) c.3794G>C (p.Ser1265Thr) c.2750G>C (p.Ser917Thr) c.4079G>C (p.Ser1360Thr) n.4927G>C | |
18 | g.70059934C>T | CA402694654 | RTTN | c.4856G>A (p.Ser1619Asn) c.943G>A (p.Ala315Thr) n.2402G>A c.10G>A c.2255G>A (p.Ser752Asn) c.2208G>A (n.2208G>A) c.*3170G>A (n.*3170G>A) c.4137G>A (n.4137G>A) c.2120G>A (p.Ser707Asn) c.4859G>A (p.Ser1620Asn) c.4619G>A (p.Ser1540Asn) c.4430G>A (p.Ser1477Asn) c.3359G>A (p.Ser1120Asn) n.4897G>A c.4616G>A (p.Ser1539Asn) c.4217G>A (p.Ser1406Asn) c.3794G>A (p.Ser1265Asn) c.2750G>A (p.Ser917Asn) c.4079G>A (p.Ser1360Asn) n.4927G>A | ClinVar dbSNP |
18 | g.70059935T>A | CA402694658 | RTTN | c.4855A>T (p.Ser1619Cys) c.942A>T (p.Ala314=) n.2401A>T c.9A>T c.2254A>T (p.Ser752Cys) c.2207A>T (n.2207A>T) c.*3169A>T (n.*3169A>T) c.4136A>T (n.4136A>T) c.2119A>T (p.Ser707Cys) c.4858A>T (p.Ser1620Cys) c.4618A>T (p.Ser1540Cys) c.4429A>T (p.Ser1477Cys) c.3358A>T (p.Ser1120Cys) n.4896A>T c.4615A>T (p.Ser1539Cys) c.4216A>T (p.Ser1406Cys) c.3793A>T (p.Ser1265Cys) c.2749A>T (p.Ser917Cys) c.4078A>T (p.Ser1360Cys) n.4926A>T | |
18 | g.70059935T>C | CA301946477 | RTTN | c.4855A>G (p.Ser1619Gly) c.942A>G (p.Ala314=) n.2401A>G c.9A>G c.2254A>G (p.Ser752Gly) c.2207A>G (n.2207A>G) c.*3169A>G (n.*3169A>G) c.4136A>G (n.4136A>G) c.2119A>G (p.Ser707Gly) c.4858A>G (p.Ser1620Gly) c.4618A>G (p.Ser1540Gly) c.4429A>G (p.Ser1477Gly) c.3358A>G (p.Ser1120Gly) n.4896A>G c.4615A>G (p.Ser1539Gly) c.4216A>G (p.Ser1406Gly) c.3793A>G (p.Ser1265Gly) c.2749A>G (p.Ser917Gly) c.4078A>G (p.Ser1360Gly) n.4926A>G | dbSNP gnomAD v2 gnomAD v4 |
18 | g.70059935T>G | CA402694661 | RTTN | c.4855A>C (p.Ser1619Arg) c.942A>C (p.Ala314=) n.2401A>C c.9A>C c.2254A>C (p.Ser752Arg) c.2207A>C (n.2207A>C) c.*3169A>C (n.*3169A>C) c.4136A>C (n.4136A>C) c.2119A>C (p.Ser707Arg) c.4858A>C (p.Ser1620Arg) c.4618A>C (p.Ser1540Arg) c.4429A>C (p.Ser1477Arg) c.3358A>C (p.Ser1120Arg) n.4896A>C c.4615A>C (p.Ser1539Arg) c.4216A>C (p.Ser1406Arg) c.3793A>C (p.Ser1265Arg) c.2749A>C (p.Ser917Arg) c.4078A>C (p.Ser1360Arg) n.4926A>C | |
18 | g.70059935T= | CA2311957295 | RTTN | c.4855A= (p.Ser1619=) c.942A= (p.Ala314=) n.2401A= c.9A= c.2254A= (p.Ser752=) c.2207A= (n.2207A=) c.*3169A= (n.*3169A=) c.4136A= (n.4136A=) c.2119A= (p.Ser707=) c.4858A= (p.Ser1620=) c.4618A= (p.Ser1540=) c.4429A= (p.Ser1477=) c.3358A= (p.Ser1120=) n.4896A= c.4615A= (p.Ser1539=) c.4216A= (p.Ser1406=) c.3793A= (p.Ser1265=) c.2749A= (p.Ser917=) c.4078A= (p.Ser1360=) n.4926A= | |
18 | g.70059936G>A | CA504323426 | RTTN | c.4854C>T (p.Cys1618=) c.941C>T (p.Ala314Val) n.2400C>T c.8C>T c.2253C>T (p.Cys751=) c.2206C>T (n.2206C>T) c.*3168C>T (n.*3168C>T) c.4135C>T (n.4135C>T) c.2118C>T (p.Cys706=) c.4857C>T (p.Cys1619=) c.4617C>T (p.Cys1539=) c.4428C>T (p.Cys1476=) c.3357C>T (p.Cys1119=) n.4895C>T c.4614C>T (p.Cys1538=) c.4215C>T (p.Cys1405=) c.3792C>T (p.Cys1264=) c.2748C>T (p.Cys916=) c.4077C>T (p.Cys1359=) n.4925C>T | |
18 | g.70059936G>C | CA402694663 | RTTN | c.4854C>G (p.Cys1618Trp) c.941C>G (p.Ala314Gly) n.2400C>G c.8C>G c.2253C>G (p.Cys751Trp) c.2206C>G (n.2206C>G) c.*3168C>G (n.*3168C>G) c.4135C>G (n.4135C>G) c.2118C>G (p.Cys706Trp) c.4857C>G (p.Cys1619Trp) c.4617C>G (p.Cys1539Trp) c.4428C>G (p.Cys1476Trp) c.3357C>G (p.Cys1119Trp) n.4895C>G c.4614C>G (p.Cys1538Trp) c.4215C>G (p.Cys1405Trp) c.3792C>G (p.Cys1264Trp) c.2748C>G (p.Cys916Trp) c.4077C>G (p.Cys1359Trp) n.4925C>G | |
18 | g.70059936G>T | CA402694666 | RTTN | c.4854C>A (p.Cys1618Ter) c.941C>A (p.Ala314Glu) n.2400C>A c.8C>A c.2253C>A (p.Cys751Ter) c.2206C>A (n.2206C>A) c.*3168C>A (n.*3168C>A) c.4135C>A (n.4135C>A) c.2118C>A (p.Cys706Ter) c.4857C>A (p.Cys1619Ter) c.4617C>A (p.Cys1539Ter) c.4428C>A (p.Cys1476Ter) c.3357C>A (p.Cys1119Ter) n.4895C>A c.4614C>A (p.Cys1538Ter) c.4215C>A (p.Cys1405Ter) c.3792C>A (p.Cys1264Ter) c.2748C>A (p.Cys916Ter) c.4077C>A (p.Cys1359Ter) n.4925C>A | |
18 | g.70059937C>A | CA402694668 | RTTN | c.4853G>T (p.Cys1618Phe) c.940G>T (p.Ala314Ser) n.2399G>T c.7G>T c.2252G>T (p.Cys751Phe) c.2205G>T (n.2205G>T) c.*3167G>T (n.*3167G>T) c.4134G>T (n.4134G>T) c.2117G>T (p.Cys706Phe) c.4856G>T (p.Cys1619Phe) c.4616G>T (p.Cys1539Phe) c.4427G>T (p.Cys1476Phe) c.3356G>T (p.Cys1119Phe) n.4894G>T c.4613G>T (p.Cys1538Phe) c.4214G>T (p.Cys1405Phe) c.3791G>T (p.Cys1264Phe) c.2747G>T (p.Cys916Phe) c.4076G>T (p.Cys1359Phe) n.4924G>T | |
18 | g.70059937C= | CA2311957296 | RTTN | c.4853G= (p.Cys1618=) c.940G= (p.Ala314=) n.2399G= c.7G= c.2252G= (p.Cys751=) c.2205G= (n.2205G=) c.*3167G= (n.*3167G=) c.4134G= (n.4134G=) c.2117G= (p.Cys706=) c.4856G= (p.Cys1619=) c.4616G= (p.Cys1539=) c.4427G= (p.Cys1476=) c.3356G= (p.Cys1119=) n.4894G= c.4613G= (p.Cys1538=) c.4214G= (p.Cys1405=) c.3791G= (p.Cys1264=) c.2747G= (p.Cys916=) c.4076G= (p.Cys1359=) n.4924G= | |
18 | g.70059937C>G | CA402694671 | RTTN | c.4853G>C (p.Cys1618Ser) c.940G>C (p.Ala314Pro) n.2399G>C c.7G>C c.2252G>C (p.Cys751Ser) c.2205G>C (n.2205G>C) c.*3167G>C (n.*3167G>C) c.4134G>C (n.4134G>C) c.2117G>C (p.Cys706Ser) c.4856G>C (p.Cys1619Ser) c.4616G>C (p.Cys1539Ser) c.4427G>C (p.Cys1476Ser) c.3356G>C (p.Cys1119Ser) n.4894G>C c.4613G>C (p.Cys1538Ser) c.4214G>C (p.Cys1405Ser) c.3791G>C (p.Cys1264Ser) c.2747G>C (p.Cys916Ser) c.4076G>C (p.Cys1359Ser) n.4924G>C | |
18 | g.70059937C>T | CA402694673 | RTTN | c.4853G>A (p.Cys1618Tyr) c.940G>A (p.Ala314Thr) n.2399G>A c.7G>A c.2252G>A (p.Cys751Tyr) c.2205G>A (n.2205G>A) c.*3167G>A (n.*3167G>A) c.4134G>A (n.4134G>A) c.2117G>A (p.Cys706Tyr) c.4856G>A (p.Cys1619Tyr) c.4616G>A (p.Cys1539Tyr) c.4427G>A (p.Cys1476Tyr) c.3356G>A (p.Cys1119Tyr) n.4894G>A c.4613G>A (p.Cys1538Tyr) c.4214G>A (p.Cys1405Tyr) c.3791G>A (p.Cys1264Tyr) c.2747G>A (p.Cys916Tyr) c.4076G>A (p.Cys1359Tyr) n.4924G>A | dbSNP |
18 | g.70059938A>C | CA402694676 | RTTN | c.4852T>G (p.Cys1618Gly) c.939T>G (p.Cys313Trp) n.2398T>G c.6T>G c.2251T>G (p.Cys751Gly) c.2204T>G (n.2204T>G) c.*3166T>G (n.*3166T>G) c.4133T>G (n.4133T>G) c.2116T>G (p.Cys706Gly) c.4855T>G (p.Cys1619Gly) c.4615T>G (p.Cys1539Gly) c.4426T>G (p.Cys1476Gly) c.3355T>G (p.Cys1119Gly) n.4893T>G c.4612T>G (p.Cys1538Gly) c.4213T>G (p.Cys1405Gly) c.3790T>G (p.Cys1264Gly) c.2746T>G (p.Cys916Gly) c.4075T>G (p.Cys1359Gly) n.4923T>G | |
18 | g.70059938A>G | CA402694679 | RTTN | c.4852T>C (p.Cys1618Arg) c.939T>C (p.Cys313=) n.2398T>C c.6T>C c.2251T>C (p.Cys751Arg) c.2204T>C (n.2204T>C) c.*3166T>C (n.*3166T>C) c.4133T>C (n.4133T>C) c.2116T>C (p.Cys706Arg) c.4855T>C (p.Cys1619Arg) c.4615T>C (p.Cys1539Arg) c.4426T>C (p.Cys1476Arg) c.3355T>C (p.Cys1119Arg) n.4893T>C c.4612T>C (p.Cys1538Arg) c.4213T>C (p.Cys1405Arg) c.3790T>C (p.Cys1264Arg) c.2746T>C (p.Cys916Arg) c.4075T>C (p.Cys1359Arg) n.4923T>C | |
18 | g.70059938A>T | CA402694680 | RTTN | c.4852T>A (p.Cys1618Ser) c.939T>A (p.Cys313Ter) n.2398T>A c.6T>A c.2251T>A (p.Cys751Ser) c.2204T>A (n.2204T>A) c.*3166T>A (n.*3166T>A) c.4133T>A (n.4133T>A) c.2116T>A (p.Cys706Ser) c.4855T>A (p.Cys1619Ser) c.4615T>A (p.Cys1539Ser) c.4426T>A (p.Cys1476Ser) c.3355T>A (p.Cys1119Ser) n.4893T>A c.4612T>A (p.Cys1538Ser) c.4213T>A (p.Cys1405Ser) c.3790T>A (p.Cys1264Ser) c.2746T>A (p.Cys916Ser) c.4075T>A (p.Cys1359Ser) n.4923T>A | |
18 | g.70059939C>A | CA402694687 | RTTN | c.4851G>T (p.Met1617Ile) c.938G>T (p.Cys313Phe) n.2397G>T c.5G>T c.2250G>T (p.Met750Ile) c.2203G>T (n.2203G>T) c.*3165G>T (n.*3165G>T) c.4132G>T (n.4132G>T) c.2115G>T (p.Met705Ile) c.4854G>T (p.Met1618Ile) c.4614G>T (p.Met1538Ile) c.4425G>T (p.Met1475Ile) c.3354G>T (p.Met1118Ile) n.4892G>T c.4611G>T (p.Met1537Ile) c.4212G>T (p.Met1404Ile) c.3789G>T (p.Met1263Ile) c.2745G>T (p.Met915Ile) c.4074G>T (p.Met1358Ile) n.4922G>T | |
18 | g.70059939C>G | CA402694685 | RTTN | c.4851G>C (p.Met1617Ile) c.938G>C (p.Cys313Ser) n.2397G>C c.5G>C c.2250G>C (p.Met750Ile) c.2203G>C (n.2203G>C) c.*3165G>C (n.*3165G>C) c.4132G>C (n.4132G>C) c.2115G>C (p.Met705Ile) c.4854G>C (p.Met1618Ile) c.4614G>C (p.Met1538Ile) c.4425G>C (p.Met1475Ile) c.3354G>C (p.Met1118Ile) n.4892G>C c.4611G>C (p.Met1537Ile) c.4212G>C (p.Met1404Ile) c.3789G>C (p.Met1263Ile) c.2745G>C (p.Met915Ile) c.4074G>C (p.Met1358Ile) n.4922G>C | |
18 | g.70059939C>T | CA402694683 | RTTN | c.4851G>A (p.Met1617Ile) c.938G>A (p.Cys313Tyr) n.2397G>A c.5G>A c.2250G>A (p.Met750Ile) c.2203G>A (n.2203G>A) c.*3165G>A (n.*3165G>A) c.4132G>A (n.4132G>A) c.2115G>A (p.Met705Ile) c.4854G>A (p.Met1618Ile) c.4614G>A (p.Met1538Ile) c.4425G>A (p.Met1475Ile) c.3354G>A (p.Met1118Ile) n.4892G>A c.4611G>A (p.Met1537Ile) c.4212G>A (p.Met1404Ile) c.3789G>A (p.Met1263Ile) c.2745G>A (p.Met915Ile) c.4074G>A (p.Met1358Ile) n.4922G>A | |
18 | g.70059940A= | CA2311957297 | RTTN | c.4850T= (p.Met1617=) c.937T= (p.Cys313=) n.2396T= c.4T= c.2249T= (p.Met750=) c.2202T= (n.2202T=) c.*3164T= (n.*3164T=) c.4131T= (n.4131T=) c.2114T= (p.Met705=) c.4853T= (p.Met1618=) c.4613T= (p.Met1538=) c.4424T= (p.Met1475=) c.3353T= (p.Met1118=) n.4891T= c.4610T= (p.Met1537=) c.4211T= (p.Met1404=) c.3788T= (p.Met1263=) c.2744T= (p.Met915=) c.4073T= (p.Met1358=) n.4921T= | |
18 | g.70059940A>C | CA402694691 | RTTN | c.4850T>G (p.Met1617Arg) c.937T>G (p.Cys313Gly) n.2396T>G c.4T>G c.2249T>G (p.Met750Arg) c.2202T>G (n.2202T>G) c.*3164T>G (n.*3164T>G) c.4131T>G (n.4131T>G) c.2114T>G (p.Met705Arg) c.4853T>G (p.Met1618Arg) c.4613T>G (p.Met1538Arg) c.4424T>G (p.Met1475Arg) c.3353T>G (p.Met1118Arg) n.4891T>G c.4610T>G (p.Met1537Arg) c.4211T>G (p.Met1404Arg) c.3788T>G (p.Met1263Arg) c.2744T>G (p.Met915Arg) c.4073T>G (p.Met1358Arg) n.4921T>G | |
18 | g.70059940A>G | CA155008 | RTTN | c.4850T>C (p.Met1617Thr) c.937T>C (p.Cys313Arg) n.2396T>C c.4T>C c.2249T>C (p.Met750Thr) c.2202T>C (n.2202T>C) c.*3164T>C (n.*3164T>C) c.4131T>C (n.4131T>C) c.2114T>C (p.Met705Thr) c.4853T>C (p.Met1618Thr) c.4613T>C (p.Met1538Thr) c.4424T>C (p.Met1475Thr) c.3353T>C (p.Met1118Thr) n.4891T>C c.4610T>C (p.Met1537Thr) c.4211T>C (p.Met1404Thr) c.3788T>C (p.Met1263Thr) c.2744T>C (p.Met915Thr) c.4073T>C (p.Met1358Thr) n.4921T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.70059940A>T | CA402694694 | RTTN | c.4850T>A (p.Met1617Lys) c.937T>A (p.Cys313Ser) n.2396T>A c.4T>A c.2249T>A (p.Met750Lys) c.2202T>A (n.2202T>A) c.*3164T>A (n.*3164T>A) c.4131T>A (n.4131T>A) c.2114T>A (p.Met705Lys) c.4853T>A (p.Met1618Lys) c.4613T>A (p.Met1538Lys) c.4424T>A (p.Met1475Lys) c.3353T>A (p.Met1118Lys) n.4891T>A c.4610T>A (p.Met1537Lys) c.4211T>A (p.Met1404Lys) c.3788T>A (p.Met1263Lys) c.2744T>A (p.Met915Lys) c.4073T>A (p.Met1358Lys) n.4921T>A | |
18 | g.70059941T>A | CA402694696 | RTTN | c.4849A>T (p.Met1617Leu) c.936A>T (p.Gln312His) n.2395A>T c.3A>T c.2248A>T (p.Met750Leu) c.2201A>T (n.2201A>T) c.*3163A>T (n.*3163A>T) c.4130A>T (n.4130A>T) c.2113A>T (p.Met705Leu) c.4852A>T (p.Met1618Leu) c.4612A>T (p.Met1538Leu) c.4423A>T (p.Met1475Leu) c.3352A>T (p.Met1118Leu) n.4890A>T c.4609A>T (p.Met1537Leu) c.4210A>T (p.Met1404Leu) c.3787A>T (p.Met1263Leu) c.2743A>T (p.Met915Leu) c.4072A>T (p.Met1358Leu) n.4920A>T | |
18 | g.70059941T>C | CA402694699 | RTTN | c.4849A>G (p.Met1617Val) c.936A>G (p.Gln312=) n.2395A>G c.3A>G c.2248A>G (p.Met750Val) c.2201A>G (n.2201A>G) c.*3163A>G (n.*3163A>G) c.4130A>G (n.4130A>G) c.2113A>G (p.Met705Val) c.4852A>G (p.Met1618Val) c.4612A>G (p.Met1538Val) c.4423A>G (p.Met1475Val) c.3352A>G (p.Met1118Val) n.4890A>G c.4609A>G (p.Met1537Val) c.4210A>G (p.Met1404Val) c.3787A>G (p.Met1263Val) c.2743A>G (p.Met915Val) c.4072A>G (p.Met1358Val) n.4920A>G | |
18 | g.70059941T>G | CA402694702 | RTTN | c.4849A>C (p.Met1617Leu) c.936A>C (p.Gln312His) n.2395A>C c.3A>C c.2248A>C (p.Met750Leu) c.2201A>C (n.2201A>C) c.*3163A>C (n.*3163A>C) c.4130A>C (n.4130A>C) c.2113A>C (p.Met705Leu) c.4852A>C (p.Met1618Leu) c.4612A>C (p.Met1538Leu) c.4423A>C (p.Met1475Leu) c.3352A>C (p.Met1118Leu) n.4890A>C c.4609A>C (p.Met1537Leu) c.4210A>C (p.Met1404Leu) c.3787A>C (p.Met1263Leu) c.2743A>C (p.Met915Leu) c.4072A>C (p.Met1358Leu) n.4920A>C | |
18 | g.70059942T>A | CA504323428 | RTTN | c.4848A>T (p.Ala1616=) c.935A>T (p.Gln312Leu) n.2394A>T c.2A>T c.2247A>T (p.Ala749=) c.2200A>T (n.2200A>T) c.*3162A>T (n.*3162A>T) c.4129A>T (n.4129A>T) c.2112A>T (p.Ala704=) c.4851A>T (p.Ala1617=) c.4611A>T (p.Ala1537=) c.4422A>T (p.Ala1474=) c.3351A>T (p.Ala1117=) n.4889A>T c.4608A>T (p.Ala1536=) c.4209A>T (p.Ala1403=) c.3786A>T (p.Ala1262=) c.2742A>T (p.Ala914=) c.4071A>T (p.Ala1357=) n.4919A>T | |
18 | g.70059942T>C | CA504323429 | RTTN | c.4848A>G (p.Ala1616=) c.935A>G (p.Gln312Arg) n.2394A>G c.2A>G c.2247A>G (p.Ala749=) c.2200A>G (n.2200A>G) c.*3162A>G (n.*3162A>G) c.4129A>G (n.4129A>G) c.2112A>G (p.Ala704=) c.4851A>G (p.Ala1617=) c.4611A>G (p.Ala1537=) c.4422A>G (p.Ala1474=) c.3351A>G (p.Ala1117=) n.4889A>G c.4608A>G (p.Ala1536=) c.4209A>G (p.Ala1403=) c.3786A>G (p.Ala1262=) c.2742A>G (p.Ala914=) c.4071A>G (p.Ala1357=) n.4919A>G | gnomAD v4 |
18 | g.70059942T>G | CA504323427 | RTTN | c.4848A>C (p.Ala1616=) c.935A>C (p.Gln312Pro) n.2394A>C c.2A>C c.2247A>C (p.Ala749=) c.2200A>C (n.2200A>C) c.*3162A>C (n.*3162A>C) c.4129A>C (n.4129A>C) c.2112A>C (p.Ala704=) c.4851A>C (p.Ala1617=) c.4611A>C (p.Ala1537=) c.4422A>C (p.Ala1474=) c.3351A>C (p.Ala1117=) n.4889A>C c.4608A>C (p.Ala1536=) c.4209A>C (p.Ala1403=) c.3786A>C (p.Ala1262=) c.2742A>C (p.Ala914=) c.4071A>C (p.Ala1357=) n.4919A>C | |
18 | g.70059943G>A | CA402694704 | RTTN | c.4847C>T (p.Ala1616Val) c.934C>T (p.Gln312Ter) n.2393C>T c.1C>T c.2246C>T (p.Ala749Val) c.2199C>T (n.2199C>T) c.*3161C>T (n.*3161C>T) c.4128C>T (n.4128C>T) c.2111C>T (p.Ala704Val) c.4850C>T (p.Ala1617Val) c.4610C>T (p.Ala1537Val) c.4421C>T (p.Ala1474Val) c.3350C>T (p.Ala1117Val) n.4888C>T c.4607C>T (p.Ala1536Val) c.4208C>T (p.Ala1403Val) c.3785C>T (p.Ala1262Val) c.2741C>T (p.Ala914Val) c.4070C>T (p.Ala1357Val) n.4918C>T | |
18 | g.70059943G>C | CA402694707 | RTTN | c.4847C>G (p.Ala1616Gly) c.934C>G (p.Gln312Glu) n.2393C>G c.1C>G c.2246C>G (p.Ala749Gly) c.2199C>G (n.2199C>G) c.*3161C>G (n.*3161C>G) c.4128C>G (n.4128C>G) c.2111C>G (p.Ala704Gly) c.4850C>G (p.Ala1617Gly) c.4610C>G (p.Ala1537Gly) c.4421C>G (p.Ala1474Gly) c.3350C>G (p.Ala1117Gly) n.4888C>G c.4607C>G (p.Ala1536Gly) c.4208C>G (p.Ala1403Gly) c.3785C>G (p.Ala1262Gly) c.2741C>G (p.Ala914Gly) c.4070C>G (p.Ala1357Gly) n.4918C>G | |
18 | g.70059943G>T | CA402694711 | RTTN | c.4847C>A (p.Ala1616Glu) c.934C>A (p.Gln312Lys) n.2393C>A c.1C>A c.2246C>A (p.Ala749Glu) c.2199C>A (n.2199C>A) c.*3161C>A (n.*3161C>A) c.4128C>A (n.4128C>A) c.2111C>A (p.Ala704Glu) c.4850C>A (p.Ala1617Glu) c.4610C>A (p.Ala1537Glu) c.4421C>A (p.Ala1474Glu) c.3350C>A (p.Ala1117Glu) n.4888C>A c.4607C>A (p.Ala1536Glu) c.4208C>A (p.Ala1403Glu) c.3785C>A (p.Ala1262Glu) c.2741C>A (p.Ala914Glu) c.4070C>A (p.Ala1357Glu) n.4918C>A | |
18 | g.70059944C>A | CA402694714 | RTTN | c.4846G>T (p.Ala1616Ser) c.933G>T (p.Gln311His) n.2392G>T c.2245G>T (p.Ala749Ser) c.2198G>T (n.2198G>T) c.*3160G>T (n.*3160G>T) c.4127G>T (n.4127G>T) c.2110G>T (p.Ala704Ser) c.4849G>T (p.Ala1617Ser) c.4609G>T (p.Ala1537Ser) c.4420G>T (p.Ala1474Ser) c.3349G>T (p.Ala1117Ser) n.4887G>T c.4606G>T (p.Ala1536Ser) c.4207G>T (p.Ala1403Ser) c.3784G>T (p.Ala1262Ser) c.2740G>T (p.Ala914Ser) c.4069G>T (p.Ala1357Ser) n.4917G>T | dbSNP gnomAD v3 gnomAD v4 |
18 | g.70059944C= | CA2311957298 | RTTN | c.4846G= (p.Ala1616=) c.933G= (p.Gln311=) n.2392G= c.2245G= (p.Ala749=) c.2198G= (n.2198G=) c.*3160G= (n.*3160G=) c.4127G= (n.4127G=) c.2110G= (p.Ala704=) c.4849G= (p.Ala1617=) c.4609G= (p.Ala1537=) c.4420G= (p.Ala1474=) c.3349G= (p.Ala1117=) n.4887G= c.4606G= (p.Ala1536=) c.4207G= (p.Ala1403=) c.3784G= (p.Ala1262=) c.2740G= (p.Ala914=) c.4069G= (p.Ala1357=) n.4917G= | |
18 | g.70059944C>G | CA402694716 | RTTN | c.4846G>C (p.Ala1616Pro) c.933G>C (p.Gln311His) n.2392G>C c.2245G>C (p.Ala749Pro) c.2198G>C (n.2198G>C) c.*3160G>C (n.*3160G>C) c.4127G>C (n.4127G>C) c.2110G>C (p.Ala704Pro) c.4849G>C (p.Ala1617Pro) c.4609G>C (p.Ala1537Pro) c.4420G>C (p.Ala1474Pro) c.3349G>C (p.Ala1117Pro) n.4887G>C c.4606G>C (p.Ala1536Pro) c.4207G>C (p.Ala1403Pro) c.3784G>C (p.Ala1262Pro) c.2740G>C (p.Ala914Pro) c.4069G>C (p.Ala1357Pro) n.4917G>C | |
18 | g.70059944C>T | CA402694718 | RTTN | c.4846G>A (p.Ala1616Thr) c.933G>A (p.Gln311=) n.2392G>A c.2245G>A (p.Ala749Thr) c.2198G>A (n.2198G>A) c.*3160G>A (n.*3160G>A) c.4127G>A (n.4127G>A) c.2110G>A (p.Ala704Thr) c.4849G>A (p.Ala1617Thr) c.4609G>A (p.Ala1537Thr) c.4420G>A (p.Ala1474Thr) c.3349G>A (p.Ala1117Thr) n.4887G>A c.4606G>A (p.Ala1536Thr) c.4207G>A (p.Ala1403Thr) c.3784G>A (p.Ala1262Thr) c.2740G>A (p.Ala914Thr) c.4069G>A (p.Ala1357Thr) n.4917G>A | gnomAD v4 |
18 | g.70059945T>A | CA504323430 | RTTN | c.4845A>T (p.Ser1615=) c.932A>T (p.Gln311Leu) n.2391A>T c.2244A>T (p.Ser748=) c.2197A>T (n.2197A>T) c.*3159A>T (n.*3159A>T) c.4126A>T (n.4126A>T) c.2109A>T (p.Ser703=) c.4848A>T (p.Ser1616=) c.4608A>T (p.Ser1536=) c.4419A>T (p.Ser1473=) c.3348A>T (p.Ser1116=) n.4886A>T c.4605A>T (p.Ser1535=) c.4206A>T (p.Ser1402=) c.3783A>T (p.Ser1261=) c.2739A>T (p.Ser913=) c.4068A>T (p.Ser1356=) n.4916A>T | |
18 | g.70059945T>C | CA504323431 | RTTN | c.4845A>G (p.Ser1615=) c.932A>G (p.Gln311Arg) n.2391A>G c.2244A>G (p.Ser748=) c.2197A>G (n.2197A>G) c.*3159A>G (n.*3159A>G) c.4126A>G (n.4126A>G) c.2109A>G (p.Ser703=) c.4848A>G (p.Ser1616=) c.4608A>G (p.Ser1536=) c.4419A>G (p.Ser1473=) c.3348A>G (p.Ser1116=) n.4886A>G c.4605A>G (p.Ser1535=) c.4206A>G (p.Ser1402=) c.3783A>G (p.Ser1261=) c.2739A>G (p.Ser913=) c.4068A>G (p.Ser1356=) n.4916A>G | |
18 | g.70059945T>G | CA504323432 | RTTN | c.4845A>C (p.Ser1615=) c.932A>C (p.Gln311Pro) n.2391A>C c.2244A>C (p.Ser748=) c.2197A>C (n.2197A>C) c.*3159A>C (n.*3159A>C) c.4126A>C (n.4126A>C) c.2109A>C (p.Ser703=) c.4848A>C (p.Ser1616=) c.4608A>C (p.Ser1536=) c.4419A>C (p.Ser1473=) c.3348A>C (p.Ser1116=) n.4886A>C c.4605A>C (p.Ser1535=) c.4206A>C (p.Ser1402=) c.3783A>C (p.Ser1261=) c.2739A>C (p.Ser913=) c.4068A>C (p.Ser1356=) n.4916A>C | |
18 | g.70059946G>A | CA402694724 | RTTN | c.4844C>T (p.Ser1615Leu) c.931C>T (p.Gln311Ter) n.2390C>T c.2243C>T (p.Ser748Leu) c.2196C>T (n.2196C>T) c.*3158C>T (n.*3158C>T) c.4125C>T (n.4125C>T) c.2108C>T (p.Ser703Leu) c.4847C>T (p.Ser1616Leu) c.4607C>T (p.Ser1536Leu) c.4418C>T (p.Ser1473Leu) c.3347C>T (p.Ser1116Leu) n.4885C>T c.4604C>T (p.Ser1535Leu) c.4205C>T (p.Ser1402Leu) c.3782C>T (p.Ser1261Leu) c.2738C>T (p.Ser913Leu) c.4067C>T (p.Ser1356Leu) n.4915C>T | COSMIC |
18 | g.70059946G>C | CA8995116 | RTTN | c.4844C>G (p.Ser1615Ter) c.931C>G (p.Gln311Glu) n.2390C>G c.2243C>G (p.Ser748Ter) c.2196C>G (n.2196C>G) c.*3158C>G (n.*3158C>G) c.4125C>G (n.4125C>G) c.2108C>G (p.Ser703Ter) c.4847C>G (p.Ser1616Ter) c.4607C>G (p.Ser1536Ter) c.4418C>G (p.Ser1473Ter) c.3347C>G (p.Ser1116Ter) n.4885C>G c.4604C>G (p.Ser1535Ter) c.4205C>G (p.Ser1402Ter) c.3782C>G (p.Ser1261Ter) c.2738C>G (p.Ser913Ter) c.4067C>G (p.Ser1356Ter) n.4915C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.70059946G= | CA2311957299 | RTTN | c.4844C= (p.Ser1615=) c.931C= (p.Gln311=) n.2390C= c.2243C= (p.Ser748=) c.2196C= (n.2196C=) c.*3158C= (n.*3158C=) c.4125C= (n.4125C=) c.2108C= (p.Ser703=) c.4847C= (p.Ser1616=) c.4607C= (p.Ser1536=) c.4418C= (p.Ser1473=) c.3347C= (p.Ser1116=) n.4885C= c.4604C= (p.Ser1535=) c.4205C= (p.Ser1402=) c.3782C= (p.Ser1261=) c.2738C= (p.Ser913=) c.4067C= (p.Ser1356=) n.4915C= | |
18 | g.70059946G>T | CA402694720 | RTTN | c.4844C>A (p.Ser1615Ter) c.931C>A (p.Gln311Lys) n.2390C>A c.2243C>A (p.Ser748Ter) c.2196C>A (n.2196C>A) c.*3158C>A (n.*3158C>A) c.4125C>A (n.4125C>A) c.2108C>A (p.Ser703Ter) c.4847C>A (p.Ser1616Ter) c.4607C>A (p.Ser1536Ter) c.4418C>A (p.Ser1473Ter) c.3347C>A (p.Ser1116Ter) n.4885C>A c.4604C>A (p.Ser1535Ter) c.4205C>A (p.Ser1402Ter) c.3782C>A (p.Ser1261Ter) c.2738C>A (p.Ser913Ter) c.4067C>A (p.Ser1356Ter) n.4915C>A | |
18 | g.70059947A>C | CA402694725 | RTTN | c.4843T>G (p.Ser1615Ala) c.930T>G (p.Phe310Leu) n.2389T>G c.2242T>G (p.Ser748Ala) c.2195T>G (n.2195T>G) c.*3157T>G (n.*3157T>G) c.4124T>G (n.4124T>G) c.2107T>G (p.Ser703Ala) c.4846T>G (p.Ser1616Ala) c.4606T>G (p.Ser1536Ala) c.4417T>G (p.Ser1473Ala) c.3346T>G (p.Ser1116Ala) n.4884T>G c.4603T>G (p.Ser1535Ala) c.4204T>G (p.Ser1402Ala) c.3781T>G (p.Ser1261Ala) c.2737T>G (p.Ser913Ala) c.4066T>G (p.Ser1356Ala) n.4914T>G | |
18 | g.70059947A>G | CA402694728 | RTTN | c.4843T>C (p.Ser1615Pro) c.930T>C (p.Phe310=) n.2389T>C c.2242T>C (p.Ser748Pro) c.2195T>C (n.2195T>C) c.*3157T>C (n.*3157T>C) c.4124T>C (n.4124T>C) c.2107T>C (p.Ser703Pro) c.4846T>C (p.Ser1616Pro) c.4606T>C (p.Ser1536Pro) c.4417T>C (p.Ser1473Pro) c.3346T>C (p.Ser1116Pro) n.4884T>C c.4603T>C (p.Ser1535Pro) c.4204T>C (p.Ser1402Pro) c.3781T>C (p.Ser1261Pro) c.2737T>C (p.Ser913Pro) c.4066T>C (p.Ser1356Pro) n.4914T>C | |
18 | g.70059947A>T | CA402694726 | RTTN | c.4843T>A (p.Ser1615Thr) c.930T>A (p.Phe310Leu) n.2389T>A c.2242T>A (p.Ser748Thr) c.2195T>A (n.2195T>A) c.*3157T>A (n.*3157T>A) c.4124T>A (n.4124T>A) c.2107T>A (p.Ser703Thr) c.4846T>A (p.Ser1616Thr) c.4606T>A (p.Ser1536Thr) c.4417T>A (p.Ser1473Thr) c.3346T>A (p.Ser1116Thr) n.4884T>A c.4603T>A (p.Ser1535Thr) c.4204T>A (p.Ser1402Thr) c.3781T>A (p.Ser1261Thr) c.2737T>A (p.Ser913Thr) c.4066T>A (p.Ser1356Thr) n.4914T>A | |
18 | g.70059948A>C | CA504323433 | RTTN | c.4842T>G (p.Leu1614=) c.929T>G (p.Phe310Cys) n.2388T>G c.2241T>G (p.Leu747=) c.2194T>G (n.2194T>G) c.*3156T>G (n.*3156T>G) c.4123T>G (n.4123T>G) c.2106T>G (p.Leu702=) c.4845T>G (p.Leu1615=) c.4605T>G (p.Leu1535=) c.4416T>G (p.Leu1472=) c.3345T>G (p.Leu1115=) n.4883T>G c.4602T>G (p.Leu1534=) c.4203T>G (p.Leu1401=) c.3780T>G (p.Leu1260=) c.2736T>G (p.Leu912=) c.4065T>G (p.Leu1355=) n.4913T>G | |
18 | g.70059948A>G | CA504323434 | RTTN | c.4842T>C (p.Leu1614=) c.929T>C (p.Phe310Ser) n.2388T>C c.2241T>C (p.Leu747=) c.2194T>C (n.2194T>C) c.*3156T>C (n.*3156T>C) c.4123T>C (n.4123T>C) c.2106T>C (p.Leu702=) c.4845T>C (p.Leu1615=) c.4605T>C (p.Leu1535=) c.4416T>C (p.Leu1472=) c.3345T>C (p.Leu1115=) n.4883T>C c.4602T>C (p.Leu1534=) c.4203T>C (p.Leu1401=) c.3780T>C (p.Leu1260=) c.2736T>C (p.Leu912=) c.4065T>C (p.Leu1355=) n.4913T>C | |
18 | g.70059948A>T | CA504323435 | RTTN | c.4842T>A (p.Leu1614=) c.929T>A (p.Phe310Tyr) n.2388T>A c.2241T>A (p.Leu747=) c.2194T>A (n.2194T>A) c.*3156T>A (n.*3156T>A) c.4123T>A (n.4123T>A) c.2106T>A (p.Leu702=) c.4845T>A (p.Leu1615=) c.4605T>A (p.Leu1535=) c.4416T>A (p.Leu1472=) c.3345T>A (p.Leu1115=) n.4883T>A c.4602T>A (p.Leu1534=) c.4203T>A (p.Leu1401=) c.3780T>A (p.Leu1260=) c.2736T>A (p.Leu912=) c.4065T>A (p.Leu1355=) n.4913T>A | |
18 | g.70059949A= | CA2311957300 | RTTN | c.4841T= (p.Leu1614=) c.928T= (p.Phe310=) n.2387T= c.2240T= (p.Leu747=) c.2193T= (n.2193T=) c.*3155T= (n.*3155T=) c.4122T= (n.4122T=) c.2105T= (p.Leu702=) c.4844T= (p.Leu1615=) c.4604T= (p.Leu1535=) c.4415T= (p.Leu1472=) c.3344T= (p.Leu1115=) n.4882T= c.4601T= (p.Leu1534=) c.4202T= (p.Leu1401=) c.3779T= (p.Leu1260=) c.2735T= (p.Leu912=) c.4064T= (p.Leu1355=) n.4912T= | |
18 | g.70059949A>C | CA402694731 | RTTN | c.4841T>G (p.Leu1614Arg) c.928T>G (p.Phe310Val) n.2387T>G c.2240T>G (p.Leu747Arg) c.2193T>G (n.2193T>G) c.*3155T>G (n.*3155T>G) c.4122T>G (n.4122T>G) c.2105T>G (p.Leu702Arg) c.4844T>G (p.Leu1615Arg) c.4604T>G (p.Leu1535Arg) c.4415T>G (p.Leu1472Arg) c.3344T>G (p.Leu1115Arg) n.4882T>G c.4601T>G (p.Leu1534Arg) c.4202T>G (p.Leu1401Arg) c.3779T>G (p.Leu1260Arg) c.2735T>G (p.Leu912Arg) c.4064T>G (p.Leu1355Arg) n.4912T>G | |
18 | g.70059949A>G | CA8995117 | RTTN | c.4841T>C (p.Leu1614Pro) c.928T>C (p.Phe310Leu) n.2387T>C c.2240T>C (p.Leu747Pro) c.2193T>C (n.2193T>C) c.*3155T>C (n.*3155T>C) c.4122T>C (n.4122T>C) c.2105T>C (p.Leu702Pro) c.4844T>C (p.Leu1615Pro) c.4604T>C (p.Leu1535Pro) c.4415T>C (p.Leu1472Pro) c.3344T>C (p.Leu1115Pro) n.4882T>C c.4601T>C (p.Leu1534Pro) c.4202T>C (p.Leu1401Pro) c.3779T>C (p.Leu1260Pro) c.2735T>C (p.Leu912Pro) c.4064T>C (p.Leu1355Pro) n.4912T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.70059949A>T | CA402694734 | RTTN | c.4841T>A (p.Leu1614His) c.928T>A (p.Phe310Ile) n.2387T>A c.2240T>A (p.Leu747His) c.2193T>A (n.2193T>A) c.*3155T>A (n.*3155T>A) c.4122T>A (n.4122T>A) c.2105T>A (p.Leu702His) c.4844T>A (p.Leu1615His) c.4604T>A (p.Leu1535His) c.4415T>A (p.Leu1472His) c.3344T>A (p.Leu1115His) n.4882T>A c.4601T>A (p.Leu1534His) c.4202T>A (p.Leu1401His) c.3779T>A (p.Leu1260His) c.2735T>A (p.Leu912His) c.4064T>A (p.Leu1355His) n.4912T>A | |
18 | g.70059950G>A | CA402694740 | RTTN | c.4840C>T (p.Leu1614Phe) c.927C>T (p.Phe309=) n.2386C>T c.2239C>T (p.Leu747Phe) c.2192C>T (n.2192C>T) c.*3154C>T (n.*3154C>T) c.4121C>T (n.4121C>T) c.2104C>T (p.Leu702Phe) c.4843C>T (p.Leu1615Phe) c.4603C>T (p.Leu1535Phe) c.4414C>T (p.Leu1472Phe) c.3343C>T (p.Leu1115Phe) n.4881C>T c.4600C>T (p.Leu1534Phe) c.4201C>T (p.Leu1401Phe) c.3778C>T (p.Leu1260Phe) c.2734C>T (p.Leu912Phe) c.4063C>T (p.Leu1355Phe) n.4911C>T | |
18 | g.70059950G>C | CA402694744 | RTTN | c.4840C>G (p.Leu1614Val) c.927C>G (p.Phe309Leu) n.2386C>G c.2239C>G (p.Leu747Val) c.2192C>G (n.2192C>G) c.*3154C>G (n.*3154C>G) c.4121C>G (n.4121C>G) c.2104C>G (p.Leu702Val) c.4843C>G (p.Leu1615Val) c.4603C>G (p.Leu1535Val) c.4414C>G (p.Leu1472Val) c.3343C>G (p.Leu1115Val) n.4881C>G c.4600C>G (p.Leu1534Val) c.4201C>G (p.Leu1401Val) c.3778C>G (p.Leu1260Val) c.2734C>G (p.Leu912Val) c.4063C>G (p.Leu1355Val) n.4911C>G | |
18 | g.70059950G>T | CA402694745 | RTTN | c.4840C>A (p.Leu1614Ile) c.927C>A (p.Phe309Leu) n.2386C>A c.2239C>A (p.Leu747Ile) c.2192C>A (n.2192C>A) c.*3154C>A (n.*3154C>A) c.4121C>A (n.4121C>A) c.2104C>A (p.Leu702Ile) c.4843C>A (p.Leu1615Ile) c.4603C>A (p.Leu1535Ile) c.4414C>A (p.Leu1472Ile) c.3343C>A (p.Leu1115Ile) n.4881C>A c.4600C>A (p.Leu1534Ile) c.4201C>A (p.Leu1401Ile) c.3778C>A (p.Leu1260Ile) c.2734C>A (p.Leu912Ile) c.4063C>A (p.Leu1355Ile) n.4911C>A | |
18 | g.70059951A>C | CA504323436 | RTTN | c.4839T>G (p.Leu1613=) c.926T>G (p.Phe309Cys) n.2385T>G c.2238T>G (p.Leu746=) c.2191T>G (n.2191T>G) c.*3153T>G (n.*3153T>G) c.4120T>G (n.4120T>G) c.2103T>G (p.Leu701=) c.4842T>G (p.Leu1614=) c.4602T>G (p.Leu1534=) c.4413T>G (p.Leu1471=) c.3342T>G (p.Leu1114=) n.4880T>G c.4599T>G (p.Leu1533=) c.4200T>G (p.Leu1400=) c.3777T>G (p.Leu1259=) c.2733T>G (p.Leu911=) c.4062T>G (p.Leu1354=) n.4910T>G | |
18 | g.70059951A>G | CA504323437 | RTTN | c.4839T>C (p.Leu1613=) c.926T>C (p.Phe309Ser) n.2385T>C c.2238T>C (p.Leu746=) c.2191T>C (n.2191T>C) c.*3153T>C (n.*3153T>C) c.4120T>C (n.4120T>C) c.2103T>C (p.Leu701=) c.4842T>C (p.Leu1614=) c.4602T>C (p.Leu1534=) c.4413T>C (p.Leu1471=) c.3342T>C (p.Leu1114=) n.4880T>C c.4599T>C (p.Leu1533=) c.4200T>C (p.Leu1400=) c.3777T>C (p.Leu1259=) c.2733T>C (p.Leu911=) c.4062T>C (p.Leu1354=) n.4910T>C | |
18 | g.70059951A>T | CA504323438 | RTTN | c.4839T>A (p.Leu1613=) c.926T>A (p.Phe309Tyr) n.2385T>A c.2238T>A (p.Leu746=) c.2191T>A (n.2191T>A) c.*3153T>A (n.*3153T>A) c.4120T>A (n.4120T>A) c.2103T>A (p.Leu701=) c.4842T>A (p.Leu1614=) c.4602T>A (p.Leu1534=) c.4413T>A (p.Leu1471=) c.3342T>A (p.Leu1114=) n.4880T>A c.4599T>A (p.Leu1533=) c.4200T>A (p.Leu1400=) c.3777T>A (p.Leu1259=) c.2733T>A (p.Leu911=) c.4062T>A (p.Leu1354=) n.4910T>A | |
18 | g.70059952A>C | CA402694747 | RTTN | c.4838T>G (p.Leu1613Arg) c.925T>G (p.Phe309Val) n.2384T>G c.2237T>G (p.Leu746Arg) c.2190T>G (n.2190T>G) c.*3152T>G (n.*3152T>G) c.4119T>G (n.4119T>G) c.2102T>G (p.Leu701Arg) c.4841T>G (p.Leu1614Arg) c.4601T>G (p.Leu1534Arg) c.4412T>G (p.Leu1471Arg) c.3341T>G (p.Leu1114Arg) n.4879T>G c.4598T>G (p.Leu1533Arg) c.4199T>G (p.Leu1400Arg) c.3776T>G (p.Leu1259Arg) c.2732T>G (p.Leu911Arg) c.4061T>G (p.Leu1354Arg) n.4909T>G | |
18 | g.70059952A>G | CA402694748 | RTTN | c.4838T>C (p.Leu1613Pro) c.925T>C (p.Phe309Leu) n.2384T>C c.2237T>C (p.Leu746Pro) c.2190T>C (n.2190T>C) c.*3152T>C (n.*3152T>C) c.4119T>C (n.4119T>C) c.2102T>C (p.Leu701Pro) c.4841T>C (p.Leu1614Pro) c.4601T>C (p.Leu1534Pro) c.4412T>C (p.Leu1471Pro) c.3341T>C (p.Leu1114Pro) n.4879T>C c.4598T>C (p.Leu1533Pro) c.4199T>C (p.Leu1400Pro) c.3776T>C (p.Leu1259Pro) c.2732T>C (p.Leu911Pro) c.4061T>C (p.Leu1354Pro) n.4909T>C | |
18 | g.70059952A>T | CA402694750 | RTTN | c.4838T>A (p.Leu1613His) c.925T>A (p.Phe309Ile) n.2384T>A c.2237T>A (p.Leu746His) c.2190T>A (n.2190T>A) c.*3152T>A (n.*3152T>A) c.4119T>A (n.4119T>A) c.2102T>A (p.Leu701His) c.4841T>A (p.Leu1614His) c.4601T>A (p.Leu1534His) c.4412T>A (p.Leu1471His) c.3341T>A (p.Leu1114His) n.4879T>A c.4598T>A (p.Leu1533His) c.4199T>A (p.Leu1400His) c.3776T>A (p.Leu1259His) c.2732T>A (p.Leu911His) c.4061T>A (p.Leu1354His) n.4909T>A | |
18 | g.70059953G>A | CA301946521 | RTTN | c.4837C>T (p.Leu1613Phe) c.924C>T (p.Leu308=) n.2383C>T c.2236C>T (p.Leu746Phe) c.2189C>T (n.2189C>T) c.*3151C>T (n.*3151C>T) c.4118C>T (n.4118C>T) c.2101C>T (p.Leu701Phe) c.4840C>T (p.Leu1614Phe) c.4600C>T (p.Leu1534Phe) c.4411C>T (p.Leu1471Phe) c.3340C>T (p.Leu1114Phe) c.*118C>T (n.*118C>T) n.4878C>T c.4597C>T (p.Leu1533Phe) c.4198C>T (p.Leu1400Phe) c.3775C>T (p.Leu1259Phe) c.2731C>T (p.Leu911Phe) c.4060C>T (p.Leu1354Phe) n.4908C>T | dbSNP COSMIC |
18 | g.70059953G>C | CA402694755 | RTTN | c.4837C>G (p.Leu1613Val) c.924C>G (p.Leu308=) n.2383C>G c.2236C>G (p.Leu746Val) c.2189C>G (n.2189C>G) c.*3151C>G (n.*3151C>G) c.4118C>G (n.4118C>G) c.2101C>G (p.Leu701Val) c.4840C>G (p.Leu1614Val) c.4600C>G (p.Leu1534Val) c.4411C>G (p.Leu1471Val) c.3340C>G (p.Leu1114Val) c.*118C>G (n.*118C>G) n.4878C>G c.4597C>G (p.Leu1533Val) c.4198C>G (p.Leu1400Val) c.3775C>G (p.Leu1259Val) c.2731C>G (p.Leu911Val) c.4060C>G (p.Leu1354Val) n.4908C>G | |
18 | g.70059953G= | CA2311957301 | RTTN | c.4837C= (p.Leu1613=) c.924C= (p.Leu308=) n.2383C= c.2236C= (p.Leu746=) c.2189C= (n.2189C=) c.*3151C= (n.*3151C=) c.4118C= (n.4118C=) c.2101C= (p.Leu701=) c.4840C= (p.Leu1614=) c.4600C= (p.Leu1534=) c.4411C= (p.Leu1471=) c.3340C= (p.Leu1114=) c.*118C= (n.*118C=) n.4878C= c.4597C= (p.Leu1533=) c.4198C= (p.Leu1400=) c.3775C= (p.Leu1259=) c.2731C= (p.Leu911=) c.4060C= (p.Leu1354=) n.4908C= | |
18 | g.70059953G>T | CA402694758 | RTTN | c.4837C>A (p.Leu1613Ile) c.924C>A (p.Leu308=) n.2383C>A c.2236C>A (p.Leu746Ile) c.2189C>A (n.2189C>A) c.*3151C>A (n.*3151C>A) c.4118C>A (n.4118C>A) c.2101C>A (p.Leu701Ile) c.4840C>A (p.Leu1614Ile) c.4600C>A (p.Leu1534Ile) c.4411C>A (p.Leu1471Ile) c.3340C>A (p.Leu1114Ile) c.*118C>A (n.*118C>A) n.4878C>A c.4597C>A (p.Leu1533Ile) c.4198C>A (p.Leu1400Ile) c.3775C>A (p.Leu1259Ile) c.2731C>A (p.Leu911Ile) c.4060C>A (p.Leu1354Ile) n.4908C>A | |
18 | g.70059954A= | CA2311957302 | RTTN | c.4836T= (p.Ser1612=) c.923T= (p.Leu308=) n.2382T= c.2235T= (p.Ser745=) c.2188T= (n.2188T=) c.*3150T= (n.*3150T=) c.4117T= (n.4117T=) c.2100T= (p.Ser700=) c.4839T= (p.Ser1613=) c.4599T= (p.Ser1533=) c.4410T= (p.Ser1470=) c.3339T= (p.Ser1113=) c.*117T= (n.*117T=) n.4877T= c.4596T= (p.Ser1532=) c.4197T= (p.Ser1399=) c.3774T= (p.Ser1258=) c.2730T= (p.Ser910=) c.4059T= (p.Ser1353=) n.4907T= | |
18 | g.70059954A>C | CA504323439 | RTTN | c.4836T>G (p.Ser1612=) c.923T>G (p.Leu308Arg) n.2382T>G c.2235T>G (p.Ser745=) c.2188T>G (n.2188T>G) c.*3150T>G (n.*3150T>G) c.4117T>G (n.4117T>G) c.2100T>G (p.Ser700=) c.4839T>G (p.Ser1613=) c.4599T>G (p.Ser1533=) c.4410T>G (p.Ser1470=) c.3339T>G (p.Ser1113=) c.*117T>G (n.*117T>G) n.4877T>G c.4596T>G (p.Ser1532=) c.4197T>G (p.Ser1399=) c.3774T>G (p.Ser1258=) c.2730T>G (p.Ser910=) c.4059T>G (p.Ser1353=) n.4907T>G | |
18 | g.70059954A>G | CA8995118 | RTTN | c.4836T>C (p.Ser1612=) c.923T>C (p.Leu308Pro) n.2382T>C c.2235T>C (p.Ser745=) c.2188T>C (n.2188T>C) c.*3150T>C (n.*3150T>C) c.4117T>C (n.4117T>C) c.2100T>C (p.Ser700=) c.4839T>C (p.Ser1613=) c.4599T>C (p.Ser1533=) c.4410T>C (p.Ser1470=) c.3339T>C (p.Ser1113=) c.*117T>C (n.*117T>C) n.4877T>C c.4596T>C (p.Ser1532=) c.4197T>C (p.Ser1399=) c.3774T>C (p.Ser1258=) c.2730T>C (p.Ser910=) c.4059T>C (p.Ser1353=) n.4907T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.70059954A>T | CA504323440 | RTTN | c.4836T>A (p.Ser1612=) c.923T>A (p.Leu308His) n.2382T>A c.2235T>A (p.Ser745=) c.2188T>A (n.2188T>A) c.*3150T>A (n.*3150T>A) c.4117T>A (n.4117T>A) c.2100T>A (p.Ser700=) c.4839T>A (p.Ser1613=) c.4599T>A (p.Ser1533=) c.4410T>A (p.Ser1470=) c.3339T>A (p.Ser1113=) c.*117T>A (n.*117T>A) n.4877T>A c.4596T>A (p.Ser1532=) c.4197T>A (p.Ser1399=) c.3774T>A (p.Ser1258=) c.2730T>A (p.Ser910=) c.4059T>A (p.Ser1353=) n.4907T>A | |
18 | g.70059955G>A | CA402694764 | RTTN | c.4835C>T (p.Ser1612Phe) c.922C>T (p.Leu308Phe) n.2381C>T c.2234C>T (p.Ser745Phe) c.2187C>T (n.2187C>T) c.*3149C>T (n.*3149C>T) c.4116C>T (n.4116C>T) c.2099C>T (p.Ser700Phe) c.4838C>T (p.Ser1613Phe) c.4598C>T (p.Ser1533Phe) c.4409C>T (p.Ser1470Phe) c.3338C>T (p.Ser1113Phe) c.*116C>T (n.*116C>T) n.4876C>T c.4595C>T (p.Ser1532Phe) c.4196C>T (p.Ser1399Phe) c.3773C>T (p.Ser1258Phe) c.2729C>T (p.Ser910Phe) c.4058C>T (p.Ser1353Phe) n.4906C>T | COSMIC |
18 | g.70059955G>C | CA402694761 | RTTN | c.4835C>G (p.Ser1612Cys) c.922C>G (p.Leu308Val) n.2381C>G c.2234C>G (p.Ser745Cys) c.2187C>G (n.2187C>G) c.*3149C>G (n.*3149C>G) c.4116C>G (n.4116C>G) c.2099C>G (p.Ser700Cys) c.4838C>G (p.Ser1613Cys) c.4598C>G (p.Ser1533Cys) c.4409C>G (p.Ser1470Cys) c.3338C>G (p.Ser1113Cys) c.*116C>G (n.*116C>G) n.4876C>G c.4595C>G (p.Ser1532Cys) c.4196C>G (p.Ser1399Cys) c.3773C>G (p.Ser1258Cys) c.2729C>G (p.Ser910Cys) c.4058C>G (p.Ser1353Cys) n.4906C>G | gnomAD v4 |
18 | g.70059955G>T | CA402694762 | RTTN | c.4835C>A (p.Ser1612Tyr) c.922C>A (p.Leu308Ile) n.2381C>A c.2234C>A (p.Ser745Tyr) c.2187C>A (n.2187C>A) c.*3149C>A (n.*3149C>A) c.4116C>A (n.4116C>A) c.2099C>A (p.Ser700Tyr) c.4838C>A (p.Ser1613Tyr) c.4598C>A (p.Ser1533Tyr) c.4409C>A (p.Ser1470Tyr) c.3338C>A (p.Ser1113Tyr) c.*116C>A (n.*116C>A) n.4876C>A c.4595C>A (p.Ser1532Tyr) c.4196C>A (p.Ser1399Tyr) c.3773C>A (p.Ser1258Tyr) c.2729C>A (p.Ser910Tyr) c.4058C>A (p.Ser1353Tyr) n.4906C>A | gnomAD v4 |
18 | g.70059956A>C | CA402694768 | RTTN | c.4834T>G (p.Ser1612Ala) c.921T>G (p.His307Gln) n.2380T>G c.2233T>G (p.Ser745Ala) c.2186T>G (n.2186T>G) c.*3148T>G (n.*3148T>G) c.4115T>G (n.4115T>G) c.2098T>G (p.Ser700Ala) c.4837T>G (p.Ser1613Ala) c.4597T>G (p.Ser1533Ala) c.4408T>G (p.Ser1470Ala) c.3337T>G (p.Ser1113Ala) c.*115T>G (n.*115T>G) n.4875T>G c.4594T>G (p.Ser1532Ala) c.4195T>G (p.Ser1399Ala) c.3772T>G (p.Ser1258Ala) c.2728T>G (p.Ser910Ala) c.4057T>G (p.Ser1353Ala) n.4905T>G | |
18 | g.70059956A>G | CA402694771 | RTTN | c.4834T>C (p.Ser1612Pro) c.921T>C (p.His307=) n.2380T>C c.2233T>C (p.Ser745Pro) c.2186T>C (n.2186T>C) c.*3148T>C (n.*3148T>C) c.4115T>C (n.4115T>C) c.2098T>C (p.Ser700Pro) c.4837T>C (p.Ser1613Pro) c.4597T>C (p.Ser1533Pro) c.4408T>C (p.Ser1470Pro) c.3337T>C (p.Ser1113Pro) c.*115T>C (n.*115T>C) n.4875T>C c.4594T>C (p.Ser1532Pro) c.4195T>C (p.Ser1399Pro) c.3772T>C (p.Ser1258Pro) c.2728T>C (p.Ser910Pro) c.4057T>C (p.Ser1353Pro) n.4905T>C | |
18 | g.70059956A>T | CA402694774 | RTTN | c.4834T>A (p.Ser1612Thr) c.921T>A (p.His307Gln) n.2380T>A c.2233T>A (p.Ser745Thr) c.2186T>A (n.2186T>A) c.*3148T>A (n.*3148T>A) c.4115T>A (n.4115T>A) c.2098T>A (p.Ser700Thr) c.4837T>A (p.Ser1613Thr) c.4597T>A (p.Ser1533Thr) c.4408T>A (p.Ser1470Thr) c.3337T>A (p.Ser1113Thr) c.*115T>A (n.*115T>A) n.4875T>A c.4594T>A (p.Ser1532Thr) c.4195T>A (p.Ser1399Thr) c.3772T>A (p.Ser1258Thr) c.2728T>A (p.Ser910Thr) c.4057T>A (p.Ser1353Thr) n.4905T>A | |
18 | g.70059957T>A | CA504323441 | RTTN | c.4833A>T (p.Pro1611=) c.920A>T (p.His307Leu) n.2379A>T c.2232A>T (p.Pro744=) c.2185A>T (n.2185A>T) c.*3147A>T (n.*3147A>T) c.4114A>T (n.4114A>T) c.2097A>T (p.Pro699=) c.4836A>T (p.Pro1612=) c.4596A>T (p.Pro1532=) c.4407A>T (p.Pro1469=) c.3336A>T (p.Pro1112=) c.*114A>T (n.*114A>T) n.4874A>T c.4593A>T (p.Pro1531=) c.4194A>T (p.Pro1398=) c.3771A>T (p.Pro1257=) c.2727A>T (p.Pro909=) c.4056A>T (p.Pro1352=) n.4904A>T | |
18 | g.70059957T>C | CA504323442 | RTTN | c.4833A>G (p.Pro1611=) c.920A>G (p.His307Arg) n.2379A>G c.2232A>G (p.Pro744=) c.2185A>G (n.2185A>G) c.*3147A>G (n.*3147A>G) c.4114A>G (n.4114A>G) c.2097A>G (p.Pro699=) c.4836A>G (p.Pro1612=) c.4596A>G (p.Pro1532=) c.4407A>G (p.Pro1469=) c.3336A>G (p.Pro1112=) c.*114A>G (n.*114A>G) n.4874A>G c.4593A>G (p.Pro1531=) c.4194A>G (p.Pro1398=) c.3771A>G (p.Pro1257=) c.2727A>G (p.Pro909=) c.4056A>G (p.Pro1352=) n.4904A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.70059957T>G | CA504323443 | RTTN | c.4833A>C (p.Pro1611=) c.920A>C (p.His307Pro) n.2379A>C c.2232A>C (p.Pro744=) c.2185A>C (n.2185A>C) c.*3147A>C (n.*3147A>C) c.4114A>C (n.4114A>C) c.2097A>C (p.Pro699=) c.4836A>C (p.Pro1612=) c.4596A>C (p.Pro1532=) c.4407A>C (p.Pro1469=) c.3336A>C (p.Pro1112=) c.*114A>C (n.*114A>C) n.4874A>C c.4593A>C (p.Pro1531=) c.4194A>C (p.Pro1398=) c.3771A>C (p.Pro1257=) c.2727A>C (p.Pro909=) c.4056A>C (p.Pro1352=) n.4904A>C | |
18 | g.70059957T= | CA2311957303 | RTTN | c.4833A= (p.Pro1611=) c.920A= (p.His307=) n.2379A= c.2232A= (p.Pro744=) c.2185A= (n.2185A=) c.*3147A= (n.*3147A=) c.4114A= (n.4114A=) c.2097A= (p.Pro699=) c.4836A= (p.Pro1612=) c.4596A= (p.Pro1532=) c.4407A= (p.Pro1469=) c.3336A= (p.Pro1112=) c.*114A= (n.*114A=) n.4874A= c.4593A= (p.Pro1531=) c.4194A= (p.Pro1398=) c.3771A= (p.Pro1257=) c.2727A= (p.Pro909=) c.4056A= (p.Pro1352=) n.4904A= | |
18 | g.70059958G>A | CA402694776 | RTTN | c.4832C>T (p.Pro1611Leu) c.919C>T (p.His307Tyr) n.2378C>T c.2231C>T (p.Pro744Leu) c.2184C>T (n.2184C>T) c.*3146C>T (n.*3146C>T) c.4113C>T (n.4113C>T) c.2096C>T (p.Pro699Leu) c.4835C>T (p.Pro1612Leu) c.4595C>T (p.Pro1532Leu) c.4406C>T (p.Pro1469Leu) c.3335C>T (p.Pro1112Leu) c.*113C>T (n.*113C>T) n.4873C>T c.4592C>T (p.Pro1531Leu) c.4193C>T (p.Pro1398Leu) c.3770C>T (p.Pro1257Leu) c.2726C>T (p.Pro909Leu) c.4055C>T (p.Pro1352Leu) n.4903C>T | dbSNP gnomAD v3 gnomAD v4 |
18 | g.70059958G>C | CA402694779 | RTTN | c.4832C>G (p.Pro1611Arg) c.919C>G (p.His307Asp) n.2378C>G c.2231C>G (p.Pro744Arg) c.2184C>G (n.2184C>G) c.*3146C>G (n.*3146C>G) c.4113C>G (n.4113C>G) c.2096C>G (p.Pro699Arg) c.4835C>G (p.Pro1612Arg) c.4595C>G (p.Pro1532Arg) c.4406C>G (p.Pro1469Arg) c.3335C>G (p.Pro1112Arg) c.*113C>G (n.*113C>G) n.4873C>G c.4592C>G (p.Pro1531Arg) c.4193C>G (p.Pro1398Arg) c.3770C>G (p.Pro1257Arg) c.2726C>G (p.Pro909Arg) c.4055C>G (p.Pro1352Arg) n.4903C>G | |
18 | g.70059958G= | CA2311957304 | RTTN | c.4832C= (p.Pro1611=) c.919C= (p.His307=) n.2378C= c.2231C= (p.Pro744=) c.2184C= (n.2184C=) c.*3146C= (n.*3146C=) c.4113C= (n.4113C=) c.2096C= (p.Pro699=) c.4835C= (p.Pro1612=) c.4595C= (p.Pro1532=) c.4406C= (p.Pro1469=) c.3335C= (p.Pro1112=) c.*113C= (n.*113C=) n.4873C= c.4592C= (p.Pro1531=) c.4193C= (p.Pro1398=) c.3770C= (p.Pro1257=) c.2726C= (p.Pro909=) c.4055C= (p.Pro1352=) n.4903C= | |
18 | g.70059958G>T | CA402694781 | RTTN | c.4832C>A (p.Pro1611Gln) c.919C>A (p.His307Asn) n.2378C>A c.2231C>A (p.Pro744Gln) c.2184C>A (n.2184C>A) c.*3146C>A (n.*3146C>A) c.4113C>A (n.4113C>A) c.2096C>A (p.Pro699Gln) c.4835C>A (p.Pro1612Gln) c.4595C>A (p.Pro1532Gln) c.4406C>A (p.Pro1469Gln) c.3335C>A (p.Pro1112Gln) c.*113C>A (n.*113C>A) n.4873C>A c.4592C>A (p.Pro1531Gln) c.4193C>A (p.Pro1398Gln) c.3770C>A (p.Pro1257Gln) c.2726C>A (p.Pro909Gln) c.4055C>A (p.Pro1352Gln) n.4903C>A | |
18 | g.70059959G>A | CA402694784 | RTTN | c.4831C>T (p.Pro1611Ser) c.918C>T (p.Leu306=) n.2377C>T c.2230C>T (p.Pro744Ser) c.2183C>T (n.2183C>T) c.*3145C>T (n.*3145C>T) c.4112C>T (n.4112C>T) c.2095C>T (p.Pro699Ser) c.4834C>T (p.Pro1612Ser) c.4594C>T (p.Pro1532Ser) c.4405C>T (p.Pro1469Ser) c.3334C>T (p.Pro1112Ser) c.*112C>T (n.*112C>T) n.4872C>T c.4591C>T (p.Pro1531Ser) c.4192C>T (p.Pro1398Ser) c.3769C>T (p.Pro1257Ser) c.2725C>T (p.Pro909Ser) c.4054C>T (p.Pro1352Ser) n.4902C>T | |
18 | g.70059959G>C | CA402694785 | RTTN | c.4831C>G (p.Pro1611Ala) c.918C>G (p.Leu306=) n.2377C>G c.2230C>G (p.Pro744Ala) c.2183C>G (n.2183C>G) c.*3145C>G (n.*3145C>G) c.4112C>G (n.4112C>G) c.2095C>G (p.Pro699Ala) c.4834C>G (p.Pro1612Ala) c.4594C>G (p.Pro1532Ala) c.4405C>G (p.Pro1469Ala) c.3334C>G (p.Pro1112Ala) c.*112C>G (n.*112C>G) n.4872C>G c.4591C>G (p.Pro1531Ala) c.4192C>G (p.Pro1398Ala) c.3769C>G (p.Pro1257Ala) c.2725C>G (p.Pro909Ala) c.4054C>G (p.Pro1352Ala) n.4902C>G | dbSNP gnomAD v2 gnomAD v4 |
18 | g.70059959G= | CA2311957305 | RTTN | c.4831C= (p.Pro1611=) c.918C= (p.Leu306=) n.2377C= c.2230C= (p.Pro744=) c.2183C= (n.2183C=) c.*3145C= (n.*3145C=) c.4112C= (n.4112C=) c.2095C= (p.Pro699=) c.4834C= (p.Pro1612=) c.4594C= (p.Pro1532=) c.4405C= (p.Pro1469=) c.3334C= (p.Pro1112=) c.*112C= (n.*112C=) n.4872C= c.4591C= (p.Pro1531=) c.4192C= (p.Pro1398=) c.3769C= (p.Pro1257=) c.2725C= (p.Pro909=) c.4054C= (p.Pro1352=) n.4902C= | |
18 | g.70059959G>T | CA402694788 | RTTN | c.4831C>A (p.Pro1611Thr) c.918C>A (p.Leu306=) n.2377C>A c.2230C>A (p.Pro744Thr) c.2183C>A (n.2183C>A) c.*3145C>A (n.*3145C>A) c.4112C>A (n.4112C>A) c.2095C>A (p.Pro699Thr) c.4834C>A (p.Pro1612Thr) c.4594C>A (p.Pro1532Thr) c.4405C>A (p.Pro1469Thr) c.3334C>A (p.Pro1112Thr) c.*112C>A (n.*112C>A) n.4872C>A c.4591C>A (p.Pro1531Thr) c.4192C>A (p.Pro1398Thr) c.3769C>A (p.Pro1257Thr) c.2725C>A (p.Pro909Thr) c.4054C>A (p.Pro1352Thr) n.4902C>A | |
18 | g.70059960A= | CA2311957306 | RTTN | c.4830T= (p.Thr1610=) c.917T= (p.Leu306=) n.2376T= c.2229T= (p.Thr743=) c.2182T= (n.2182T=) c.*3144T= (n.*3144T=) c.4111T= (n.4111T=) c.2094T= (p.Thr698=) c.4833T= (p.Thr1611=) c.4593T= (p.Thr1531=) c.4404T= (p.Thr1468=) c.3333T= (p.Thr1111=) c.*111T= (n.*111T=) n.4871T= c.4590T= (p.Thr1530=) c.4191T= (p.Thr1397=) c.3768T= (p.Thr1256=) c.2724T= (p.Thr908=) c.4053T= (p.Thr1351=) n.4901T= | |
18 | g.70059960A>C | CA504323446 | RTTN | c.4830T>G (p.Thr1610=) c.917T>G (p.Leu306Arg) n.2376T>G c.2229T>G (p.Thr743=) c.2182T>G (n.2182T>G) c.*3144T>G (n.*3144T>G) c.4111T>G (n.4111T>G) c.2094T>G (p.Thr698=) c.4833T>G (p.Thr1611=) c.4593T>G (p.Thr1531=) c.4404T>G (p.Thr1468=) c.3333T>G (p.Thr1111=) c.*111T>G (n.*111T>G) n.4871T>G c.4590T>G (p.Thr1530=) c.4191T>G (p.Thr1397=) c.3768T>G (p.Thr1256=) c.2724T>G (p.Thr908=) c.4053T>G (p.Thr1351=) n.4901T>G | dbSNP gnomAD v2 gnomAD v4 |
18 | g.70059960A>G | CA8995119 | RTTN | c.4830T>C (p.Thr1610=) c.917T>C (p.Leu306Pro) n.2376T>C c.2229T>C (p.Thr743=) c.2182T>C (n.2182T>C) c.*3144T>C (n.*3144T>C) c.4111T>C (n.4111T>C) c.2094T>C (p.Thr698=) c.4833T>C (p.Thr1611=) c.4593T>C (p.Thr1531=) c.4404T>C (p.Thr1468=) c.3333T>C (p.Thr1111=) c.*111T>C (n.*111T>C) n.4871T>C c.4590T>C (p.Thr1530=) c.4191T>C (p.Thr1397=) c.3768T>C (p.Thr1256=) c.2724T>C (p.Thr908=) c.4053T>C (p.Thr1351=) n.4901T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.70059960A>T | CA504323447 | RTTN | c.4830T>A (p.Thr1610=) c.917T>A (p.Leu306His) n.2376T>A c.2229T>A (p.Thr743=) c.2182T>A (n.2182T>A) c.*3144T>A (n.*3144T>A) c.4111T>A (n.4111T>A) c.2094T>A (p.Thr698=) c.4833T>A (p.Thr1611=) c.4593T>A (p.Thr1531=) c.4404T>A (p.Thr1468=) c.3333T>A (p.Thr1111=) c.*111T>A (n.*111T>A) n.4871T>A c.4590T>A (p.Thr1530=) c.4191T>A (p.Thr1397=) c.3768T>A (p.Thr1256=) c.2724T>A (p.Thr908=) c.4053T>A (p.Thr1351=) n.4901T>A | |
18 | g.70059961G>A | CA402694793 | RTTN | c.4829C>T (p.Thr1610Ile) c.916C>T (p.Leu306Phe) n.2375C>T c.2228C>T (p.Thr743Ile) c.2181C>T (n.2181C>T) c.*3143C>T (n.*3143C>T) c.4110C>T (n.4110C>T) c.2093C>T (p.Thr698Ile) c.4832C>T (p.Thr1611Ile) c.4592C>T (p.Thr1531Ile) c.4403C>T (p.Thr1468Ile) c.3332C>T (p.Thr1111Ile) c.*110C>T (n.*110C>T) n.4870C>T c.4589C>T (p.Thr1530Ile) c.4190C>T (p.Thr1397Ile) c.3767C>T (p.Thr1256Ile) c.2723C>T (p.Thr908Ile) c.4052C>T (p.Thr1351Ile) n.4900C>T | gnomAD v4 |
18 | g.70059961G>C | CA402694795 | RTTN | c.4829C>G (p.Thr1610Ser) c.916C>G (p.Leu306Val) n.2375C>G c.2228C>G (p.Thr743Ser) c.2181C>G (n.2181C>G) c.*3143C>G (n.*3143C>G) c.4110C>G (n.4110C>G) c.2093C>G (p.Thr698Ser) c.4832C>G (p.Thr1611Ser) c.4592C>G (p.Thr1531Ser) c.4403C>G (p.Thr1468Ser) c.3332C>G (p.Thr1111Ser) c.*110C>G (n.*110C>G) n.4870C>G c.4589C>G (p.Thr1530Ser) c.4190C>G (p.Thr1397Ser) c.3767C>G (p.Thr1256Ser) c.2723C>G (p.Thr908Ser) c.4052C>G (p.Thr1351Ser) n.4900C>G | |
18 | g.70059961G>T | CA402694791 | RTTN | c.4829C>A (p.Thr1610Asn) c.916C>A (p.Leu306Ile) n.2375C>A c.2228C>A (p.Thr743Asn) c.2181C>A (n.2181C>A) c.*3143C>A (n.*3143C>A) c.4110C>A (n.4110C>A) c.2093C>A (p.Thr698Asn) c.4832C>A (p.Thr1611Asn) c.4592C>A (p.Thr1531Asn) c.4403C>A (p.Thr1468Asn) c.3332C>A (p.Thr1111Asn) c.*110C>A (n.*110C>A) n.4870C>A c.4589C>A (p.Thr1530Asn) c.4190C>A (p.Thr1397Asn) c.3767C>A (p.Thr1256Asn) c.2723C>A (p.Thr908Asn) c.4052C>A (p.Thr1351Asn) n.4900C>A | |
18 | g.70059962T>A | CA402694797 | RTTN | c.4828A>T (p.Thr1610Ser) c.915A>T (p.Leu305Phe) n.2374A>T c.2227A>T (p.Thr743Ser) c.2180A>T (n.2180A>T) c.*3142A>T (n.*3142A>T) c.4109A>T (n.4109A>T) c.2092A>T (p.Thr698Ser) c.4831A>T (p.Thr1611Ser) c.4591A>T (p.Thr1531Ser) c.4402A>T (p.Thr1468Ser) c.3331A>T (p.Thr1111Ser) c.*109A>T (n.*109A>T) n.4869A>T c.4588A>T (p.Thr1530Ser) c.4189A>T (p.Thr1397Ser) c.3766A>T (p.Thr1256Ser) c.2722A>T (p.Thr908Ser) c.4051A>T (p.Thr1351Ser) n.4899A>T | |
18 | g.70059962T>C | CA402694799 | RTTN | c.4828A>G (p.Thr1610Ala) c.915A>G (p.Leu305=) n.2374A>G c.2227A>G (p.Thr743Ala) c.2180A>G (n.2180A>G) c.*3142A>G (n.*3142A>G) c.4109A>G (n.4109A>G) c.2092A>G (p.Thr698Ala) c.4831A>G (p.Thr1611Ala) c.4591A>G (p.Thr1531Ala) c.4402A>G (p.Thr1468Ala) c.3331A>G (p.Thr1111Ala) c.*109A>G (n.*109A>G) n.4869A>G c.4588A>G (p.Thr1530Ala) c.4189A>G (p.Thr1397Ala) c.3766A>G (p.Thr1256Ala) c.2722A>G (p.Thr908Ala) c.4051A>G (p.Thr1351Ala) n.4899A>G | |
18 | g.70059962T>G | CA402694801 | RTTN | c.4828A>C (p.Thr1610Pro) c.915A>C (p.Leu305Phe) n.2374A>C c.2227A>C (p.Thr743Pro) c.2180A>C (n.2180A>C) c.*3142A>C (n.*3142A>C) c.4109A>C (n.4109A>C) c.2092A>C (p.Thr698Pro) c.4831A>C (p.Thr1611Pro) c.4591A>C (p.Thr1531Pro) c.4402A>C (p.Thr1468Pro) c.3331A>C (p.Thr1111Pro) c.*109A>C (n.*109A>C) n.4869A>C c.4588A>C (p.Thr1530Pro) c.4189A>C (p.Thr1397Pro) c.3766A>C (p.Thr1256Pro) c.2722A>C (p.Thr908Pro) c.4051A>C (p.Thr1351Pro) n.4899A>C | |
18 | g.70059963A>C | CA504323450 | RTTN | c.4827T>G (p.Val1609=) c.914T>G (p.Leu305Ter) n.2373T>G c.2226T>G (p.Val742=) c.2179T>G (n.2179T>G) c.*3141T>G (n.*3141T>G) c.4108T>G (n.4108T>G) c.2091T>G (p.Val697=) c.4830T>G (p.Val1610=) c.4590T>G (p.Val1530=) c.4401T>G (p.Val1467=) c.3330T>G (p.Val1110=) c.*108T>G (n.*108T>G) n.4868T>G c.4587T>G (p.Val1529=) c.4188T>G (p.Val1396=) c.3765T>G (p.Val1255=) c.2721T>G (p.Val907=) c.4050T>G (p.Val1350=) n.4898T>G | |
18 | g.70059963A>G | CA504323451 | RTTN | c.4827T>C (p.Val1609=) c.914T>C (p.Leu305Ser) n.2373T>C c.2226T>C (p.Val742=) c.2179T>C (n.2179T>C) c.*3141T>C (n.*3141T>C) c.4108T>C (n.4108T>C) c.2091T>C (p.Val697=) c.4830T>C (p.Val1610=) c.4590T>C (p.Val1530=) c.4401T>C (p.Val1467=) c.3330T>C (p.Val1110=) c.*108T>C (n.*108T>C) n.4868T>C c.4587T>C (p.Val1529=) c.4188T>C (p.Val1396=) c.3765T>C (p.Val1255=) c.2721T>C (p.Val907=) c.4050T>C (p.Val1350=) n.4898T>C | |
18 | g.70059963A>T | CA504323449 | RTTN | c.4827T>A (p.Val1609=) c.914T>A (p.Leu305Ter) n.2373T>A c.2226T>A (p.Val742=) c.2179T>A (n.2179T>A) c.*3141T>A (n.*3141T>A) c.4108T>A (n.4108T>A) c.2091T>A (p.Val697=) c.4830T>A (p.Val1610=) c.4590T>A (p.Val1530=) c.4401T>A (p.Val1467=) c.3330T>A (p.Val1110=) c.*108T>A (n.*108T>A) n.4868T>A c.4587T>A (p.Val1529=) c.4188T>A (p.Val1396=) c.3765T>A (p.Val1255=) c.2721T>A (p.Val907=) c.4050T>A (p.Val1350=) n.4898T>A | |
18 | g.70059964A= | CA2311957307 | RTTN | c.4826T= (p.Val1609=) c.913T= (p.Leu305=) n.2372T= c.2225T= (p.Val742=) c.2178T= (n.2178T=) c.*3140T= (n.*3140T=) c.4107T= (n.4107T=) c.2090T= (p.Val697=) c.4829T= (p.Val1610=) c.4589T= (p.Val1530=) c.4400T= (p.Val1467=) c.3329T= (p.Val1110=) c.*107T= (n.*107T=) n.4867T= c.4586T= (p.Val1529=) c.4187T= (p.Val1396=) c.3764T= (p.Val1255=) c.2720T= (p.Val907=) c.4049T= (p.Val1350=) n.4897T= | |
18 | g.70059964A>C | CA8995120 | RTTN | c.4826T>G (p.Val1609Gly) c.913T>G (p.Leu305Val) n.2372T>G c.2225T>G (p.Val742Gly) c.2178T>G (n.2178T>G) c.*3140T>G (n.*3140T>G) c.4107T>G (n.4107T>G) c.2090T>G (p.Val697Gly) c.4829T>G (p.Val1610Gly) c.4589T>G (p.Val1530Gly) c.4400T>G (p.Val1467Gly) c.3329T>G (p.Val1110Gly) c.*107T>G (n.*107T>G) n.4867T>G c.4586T>G (p.Val1529Gly) c.4187T>G (p.Val1396Gly) c.3764T>G (p.Val1255Gly) c.2720T>G (p.Val907Gly) c.4049T>G (p.Val1350Gly) n.4897T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.70059964A>G | CA402694805 | RTTN | c.4826T>C (p.Val1609Ala) c.913T>C (p.Leu305=) n.2372T>C c.2225T>C (p.Val742Ala) c.2178T>C (n.2178T>C) c.*3140T>C (n.*3140T>C) c.4107T>C (n.4107T>C) c.2090T>C (p.Val697Ala) c.4829T>C (p.Val1610Ala) c.4589T>C (p.Val1530Ala) c.4400T>C (p.Val1467Ala) c.3329T>C (p.Val1110Ala) c.*107T>C (n.*107T>C) n.4867T>C c.4586T>C (p.Val1529Ala) c.4187T>C (p.Val1396Ala) c.3764T>C (p.Val1255Ala) c.2720T>C (p.Val907Ala) c.4049T>C (p.Val1350Ala) n.4897T>C | |
18 | g.70059964A>T | CA402694808 | RTTN | c.4826T>A (p.Val1609Asp) c.913T>A (p.Leu305Ile) n.2372T>A c.2225T>A (p.Val742Asp) c.2178T>A (n.2178T>A) c.*3140T>A (n.*3140T>A) c.4107T>A (n.4107T>A) c.2090T>A (p.Val697Asp) c.4829T>A (p.Val1610Asp) c.4589T>A (p.Val1530Asp) c.4400T>A (p.Val1467Asp) c.3329T>A (p.Val1110Asp) c.*107T>A (n.*107T>A) n.4867T>A c.4586T>A (p.Val1529Asp) c.4187T>A (p.Val1396Asp) c.3764T>A (p.Val1255Asp) c.2720T>A (p.Val907Asp) c.4049T>A (p.Val1350Asp) n.4897T>A | |
18 | g.70059965C>A | CA402694811 | RTTN | c.4825G>T (p.Val1609Phe) c.912G>T (p.Leu304Phe) n.2371G>T c.2224G>T (p.Val742Phe) c.2177G>T (n.2177G>T) c.*3139G>T (n.*3139G>T) c.4106G>T (n.4106G>T) c.2089G>T (p.Val697Phe) c.4828G>T (p.Val1610Phe) c.4588G>T (p.Val1530Phe) c.4399G>T (p.Val1467Phe) c.3328G>T (p.Val1110Phe) c.*106G>T (n.*106G>T) n.4866G>T c.4585G>T (p.Val1529Phe) c.4186G>T (p.Val1396Phe) c.3763G>T (p.Val1255Phe) c.2719G>T (p.Val907Phe) c.4048G>T (p.Val1350Phe) n.4896G>T | |
18 | g.70059965C= | CA2311957308 | RTTN | c.4825G= (p.Val1609=) c.912G= (p.Leu304=) n.2371G= c.2224G= (p.Val742=) c.2177G= (n.2177G=) c.*3139G= (n.*3139G=) c.4106G= (n.4106G=) c.2089G= (p.Val697=) c.4828G= (p.Val1610=) c.4588G= (p.Val1530=) c.4399G= (p.Val1467=) c.3328G= (p.Val1110=) c.*106G= (n.*106G=) n.4866G= c.4585G= (p.Val1529=) c.4186G= (p.Val1396=) c.3763G= (p.Val1255=) c.2719G= (p.Val907=) c.4048G= (p.Val1350=) n.4896G= | |
18 | g.70059965C>G | CA402694813 | RTTN | c.4825G>C (p.Val1609Leu) c.912G>C (p.Leu304Phe) n.2371G>C c.2224G>C (p.Val742Leu) c.2177G>C (n.2177G>C) c.*3139G>C (n.*3139G>C) c.4106G>C (n.4106G>C) c.2089G>C (p.Val697Leu) c.4828G>C (p.Val1610Leu) c.4588G>C (p.Val1530Leu) c.4399G>C (p.Val1467Leu) c.3328G>C (p.Val1110Leu) c.*106G>C (n.*106G>C) n.4866G>C c.4585G>C (p.Val1529Leu) c.4186G>C (p.Val1396Leu) c.3763G>C (p.Val1255Leu) c.2719G>C (p.Val907Leu) c.4048G>C (p.Val1350Leu) n.4896G>C | |
18 | g.70059965C>T | CA402694815 | RTTN | c.4825G>A (p.Val1609Ile) c.912G>A (p.Leu304=) n.2371G>A c.2224G>A (p.Val742Ile) c.2177G>A (n.2177G>A) c.*3139G>A (n.*3139G>A) c.4106G>A (n.4106G>A) c.2089G>A (p.Val697Ile) c.4828G>A (p.Val1610Ile) c.4588G>A (p.Val1530Ile) c.4399G>A (p.Val1467Ile) c.3328G>A (p.Val1110Ile) c.*106G>A (n.*106G>A) n.4866G>A c.4585G>A (p.Val1529Ile) c.4186G>A (p.Val1396Ile) c.3763G>A (p.Val1255Ile) c.2719G>A (p.Val907Ile) c.4048G>A (p.Val1350Ile) n.4896G>A | gnomAD v4 |
18 | g.70059966A>C | CA402694818 | RTTN | c.4824T>G (p.Phe1608Leu) c.911T>G (p.Leu304Trp) n.2370T>G c.2223T>G (p.Phe741Leu) c.2176T>G (n.2176T>G) c.*3138T>G (n.*3138T>G) c.4105T>G (n.4105T>G) c.2088T>G (p.Phe696Leu) c.4827T>G (p.Phe1609Leu) c.4587T>G (p.Phe1529Leu) c.4398T>G (p.Phe1466Leu) c.3327T>G (p.Phe1109Leu) c.*105T>G (n.*105T>G) n.4865T>G c.4584T>G (p.Phe1528Leu) c.4185T>G (p.Phe1395Leu) c.3762T>G (p.Phe1254Leu) c.2718T>G (p.Phe906Leu) c.4047T>G (p.Phe1349Leu) n.4895T>G | |
18 | g.70059966A>G | CA504323453 | RTTN | c.4824T>C (p.Phe1608=) c.911T>C (p.Leu304Ser) n.2370T>C c.2223T>C (p.Phe741=) c.2176T>C (n.2176T>C) c.*3138T>C (n.*3138T>C) c.4105T>C (n.4105T>C) c.2088T>C (p.Phe696=) c.4827T>C (p.Phe1609=) c.4587T>C (p.Phe1529=) c.4398T>C (p.Phe1466=) c.3327T>C (p.Phe1109=) c.*105T>C (n.*105T>C) n.4865T>C c.4584T>C (p.Phe1528=) c.4185T>C (p.Phe1395=) c.3762T>C (p.Phe1254=) c.2718T>C (p.Phe906=) c.4047T>C (p.Phe1349=) n.4895T>C | |
18 | g.70059966A>T | CA402694821 | RTTN | c.4824T>A (p.Phe1608Leu) c.911T>A (p.Leu304Ter) n.2370T>A c.2223T>A (p.Phe741Leu) c.2176T>A (n.2176T>A) c.*3138T>A (n.*3138T>A) c.4105T>A (n.4105T>A) c.2088T>A (p.Phe696Leu) c.4827T>A (p.Phe1609Leu) c.4587T>A (p.Phe1529Leu) c.4398T>A (p.Phe1466Leu) c.3327T>A (p.Phe1109Leu) c.*105T>A (n.*105T>A) n.4865T>A c.4584T>A (p.Phe1528Leu) c.4185T>A (p.Phe1395Leu) c.3762T>A (p.Phe1254Leu) c.2718T>A (p.Phe906Leu) c.4047T>A (p.Phe1349Leu) n.4895T>A | |
18 | g.70059970dup | CA2311957309 | RTTN | c.4824dup (p.Val1609CysfsTer?) c.911dup (p.Leu304PhefsTer?) n.2370dup c.2223dup (p.Val742CysfsTer?) c.2176dup (n.2176dup) c.*3138dup (n.*3138dup) c.4105dup (n.4105dup) c.2088dup (p.Val697CysfsTer?) c.4827dup (p.Val1610CysfsTer?) c.4587dup (p.Val1530CysfsTer?) c.4398dup (p.Val1467CysfsTer?) c.3327dup (p.Val1110CysfsTer?) c.*105dup (n.*105dup) n.4865dup c.4584dup (p.Val1529CysfsTer?) c.4185dup (p.Val1396CysfsTer?) c.3762dup (p.Val1255CysfsTer?) c.2718dup (p.Val907CysfsTer?) c.4047dup (p.Val1350CysfsTer?) n.4895dup | dbSNP gnomAD v4 |
18 | g.70059967A>C | CA402694824 | RTTN | c.4823T>G (p.Phe1608Cys) c.910T>G (p.Leu304Val) n.2369T>G c.2222T>G (p.Phe741Cys) c.2175T>G (n.2175T>G) c.*3137T>G (n.*3137T>G) c.4104T>G (n.4104T>G) c.2087T>G (p.Phe696Cys) c.4826T>G (p.Phe1609Cys) c.4586T>G (p.Phe1529Cys) c.4397T>G (p.Phe1466Cys) c.3326T>G (p.Phe1109Cys) c.*104T>G (n.*104T>G) n.4864T>G c.4583T>G (p.Phe1528Cys) c.4184T>G (p.Phe1395Cys) c.3761T>G (p.Phe1254Cys) c.2717T>G (p.Phe906Cys) c.4046T>G (p.Phe1349Cys) n.4894T>G | |
18 | g.70059967A>G | CA402694825 | RTTN | c.4823T>C (p.Phe1608Ser) c.910T>C (p.Leu304=) n.2369T>C c.2222T>C (p.Phe741Ser) c.2175T>C (n.2175T>C) c.*3137T>C (n.*3137T>C) c.4104T>C (n.4104T>C) c.2087T>C (p.Phe696Ser) c.4826T>C (p.Phe1609Ser) c.4586T>C (p.Phe1529Ser) c.4397T>C (p.Phe1466Ser) c.3326T>C (p.Phe1109Ser) c.*104T>C (n.*104T>C) n.4864T>C c.4583T>C (p.Phe1528Ser) c.4184T>C (p.Phe1395Ser) c.3761T>C (p.Phe1254Ser) c.2717T>C (p.Phe906Ser) c.4046T>C (p.Phe1349Ser) n.4894T>C | |
18 | g.70059967A>T | CA402694823 | RTTN | c.4823T>A (p.Phe1608Tyr) c.910T>A (p.Leu304Met) n.2369T>A c.2222T>A (p.Phe741Tyr) c.2175T>A (n.2175T>A) c.*3137T>A (n.*3137T>A) c.4104T>A (n.4104T>A) c.2087T>A (p.Phe696Tyr) c.4826T>A (p.Phe1609Tyr) c.4586T>A (p.Phe1529Tyr) c.4397T>A (p.Phe1466Tyr) c.3326T>A (p.Phe1109Tyr) c.*104T>A (n.*104T>A) n.4864T>A c.4583T>A (p.Phe1528Tyr) c.4184T>A (p.Phe1395Tyr) c.3761T>A (p.Phe1254Tyr) c.2717T>A (p.Phe906Tyr) c.4046T>A (p.Phe1349Tyr) n.4894T>A | |
18 | g.70059968A>C | CA402694826 | RTTN | c.4822T>G (p.Phe1608Val) c.909T>G (p.Phe303Leu) n.2368T>G c.2221T>G (p.Phe741Val) c.2174T>G (n.2174T>G) c.*3136T>G (n.*3136T>G) c.4103T>G (n.4103T>G) c.2086T>G (p.Phe696Val) c.4825T>G (p.Phe1609Val) c.4585T>G (p.Phe1529Val) c.4396T>G (p.Phe1466Val) c.3325T>G (p.Phe1109Val) c.*103T>G (n.*103T>G) n.4863T>G c.4582T>G (p.Phe1528Val) c.4183T>G (p.Phe1395Val) c.3760T>G (p.Phe1254Val) c.2716T>G (p.Phe906Val) c.4045T>G (p.Phe1349Val) n.4893T>G | |
18 | g.70059968A>G | CA402694827 | RTTN | c.4822T>C (p.Phe1608Leu) c.909T>C (p.Phe303=) n.2368T>C c.2221T>C (p.Phe741Leu) c.2174T>C (n.2174T>C) c.*3136T>C (n.*3136T>C) c.4103T>C (n.4103T>C) c.2086T>C (p.Phe696Leu) c.4825T>C (p.Phe1609Leu) c.4585T>C (p.Phe1529Leu) c.4396T>C (p.Phe1466Leu) c.3325T>C (p.Phe1109Leu) c.*103T>C (n.*103T>C) n.4863T>C c.4582T>C (p.Phe1528Leu) c.4183T>C (p.Phe1395Leu) c.3760T>C (p.Phe1254Leu) c.2716T>C (p.Phe906Leu) c.4045T>C (p.Phe1349Leu) n.4893T>C | |
18 | g.70059968A>T | CA402694829 | RTTN | c.4822T>A (p.Phe1608Ile) c.909T>A (p.Phe303Leu) n.2368T>A c.2221T>A (p.Phe741Ile) c.2174T>A (n.2174T>A) c.*3136T>A (n.*3136T>A) c.4103T>A (n.4103T>A) c.2086T>A (p.Phe696Ile) c.4825T>A (p.Phe1609Ile) c.4585T>A (p.Phe1529Ile) c.4396T>A (p.Phe1466Ile) c.3325T>A (p.Phe1109Ile) c.*103T>A (n.*103T>A) n.4863T>A c.4582T>A (p.Phe1528Ile) c.4183T>A (p.Phe1395Ile) c.3760T>A (p.Phe1254Ile) c.2716T>A (p.Phe906Ile) c.4045T>A (p.Phe1349Ile) n.4893T>A | |
18 | g.70059969A>C | CA504323456 | RTTN | c.4821T>G (p.Val1607=) c.908T>G (p.Phe303Cys) n.2367T>G c.2220T>G (p.Val740=) c.2173T>G (n.2173T>G) c.*3135T>G (n.*3135T>G) c.4102T>G (n.4102T>G) c.2085T>G (p.Val695=) c.4824T>G (p.Val1608=) c.4584T>G (p.Val1528=) c.4395T>G (p.Val1465=) c.3324T>G (p.Val1108=) c.*102T>G (n.*102T>G) n.4862T>G c.4581T>G (p.Val1527=) c.4182T>G (p.Val1394=) c.3759T>G (p.Val1253=) c.2715T>G (p.Val905=) c.4044T>G (p.Val1348=) n.4892T>G | |
18 | g.70059969A>G | CA504323457 | RTTN | c.4821T>C (p.Val1607=) c.908T>C (p.Phe303Ser) n.2367T>C c.2220T>C (p.Val740=) c.2173T>C (n.2173T>C) c.*3135T>C (n.*3135T>C) c.4102T>C (n.4102T>C) c.2085T>C (p.Val695=) c.4824T>C (p.Val1608=) c.4584T>C (p.Val1528=) c.4395T>C (p.Val1465=) c.3324T>C (p.Val1108=) c.*102T>C (n.*102T>C) n.4862T>C c.4581T>C (p.Val1527=) c.4182T>C (p.Val1394=) c.3759T>C (p.Val1253=) c.2715T>C (p.Val905=) c.4044T>C (p.Val1348=) n.4892T>C | |
18 | g.70059969A>T | CA504323458 | RTTN | c.4821T>A (p.Val1607=) c.908T>A (p.Phe303Tyr) n.2367T>A c.2220T>A (p.Val740=) c.2173T>A (n.2173T>A) c.*3135T>A (n.*3135T>A) c.4102T>A (n.4102T>A) c.2085T>A (p.Val695=) c.4824T>A (p.Val1608=) c.4584T>A (p.Val1528=) c.4395T>A (p.Val1465=) c.3324T>A (p.Val1108=) c.*102T>A (n.*102T>A) n.4862T>A c.4581T>A (p.Val1527=) c.4182T>A (p.Val1394=) c.3759T>A (p.Val1253=) c.2715T>A (p.Val905=) c.4044T>A (p.Val1348=) n.4892T>A | |
18 | g.70059969_70059971delinsAAC | CA2311957310 | RTTN | c.4819_4821delinsGTT (p.Val1607=) c.906_908delinsGTT (p.Val302=) n.2365_2367delinsGTT c.2218_2220delinsGTT (p.Val740=) c.2171_2173delinsGTT (n.2171_2173delinsGTT) c.*3133_*3135delinsGTT (n.*3133_*3135delinsGTT) c.4100_4102delinsGTT (n.4100_4102delinsGTT) c.2083_2085delinsGTT (p.Val695=) c.4822_4824delinsGTT (p.Val1608=) c.4582_4584delinsGTT (p.Val1528=) c.4393_4395delinsGTT (p.Val1465=) c.3322_3324delinsGTT (p.Val1108=) c.*100_*102delinsGTT (n.*100_*102delinsGTT) n.4860_4862delinsGTT c.4579_4581delinsGTT (p.Val1527=) c.4180_4182delinsGTT (p.Val1394=) c.3757_3759delinsGTT (p.Val1253=) c.2713_2715delinsGTT (p.Val905=) c.4042_4044delinsGTT (p.Val1348=) n.4890_4892delinsGTT | |
18 | g.70059970A>C | CA402694830 | RTTN | c.4820T>G (p.Val1607Gly) c.907T>G (p.Phe303Val) n.2366T>G c.2219T>G (p.Val740Gly) c.2172T>G (n.2172T>G) c.*3134T>G (n.*3134T>G) c.4101T>G (n.4101T>G) c.2084T>G (p.Val695Gly) c.4823T>G (p.Val1608Gly) c.4583T>G (p.Val1528Gly) c.4394T>G (p.Val1465Gly) c.3323T>G (p.Val1108Gly) c.*101T>G (n.*101T>G) n.4861T>G c.4580T>G (p.Val1527Gly) c.4181T>G (p.Val1394Gly) c.3758T>G (p.Val1253Gly) c.2714T>G (p.Val905Gly) c.4043T>G (p.Val1348Gly) n.4891T>G | |
18 | g.70059970A>G | CA402694832 | RTTN | c.4820T>C (p.Val1607Ala) c.907T>C (p.Phe303Leu) n.2366T>C c.2219T>C (p.Val740Ala) c.2172T>C (n.2172T>C) c.*3134T>C (n.*3134T>C) c.4101T>C (n.4101T>C) c.2084T>C (p.Val695Ala) c.4823T>C (p.Val1608Ala) c.4583T>C (p.Val1528Ala) c.4394T>C (p.Val1465Ala) c.3323T>C (p.Val1108Ala) c.*101T>C (n.*101T>C) n.4861T>C c.4580T>C (p.Val1527Ala) c.4181T>C (p.Val1394Ala) c.3758T>C (p.Val1253Ala) c.2714T>C (p.Val905Ala) c.4043T>C (p.Val1348Ala) n.4891T>C | |
18 | g.70059970A>T | CA402694834 | RTTN | c.4820T>A (p.Val1607Asp) c.907T>A (p.Phe303Ile) n.2366T>A c.2219T>A (p.Val740Asp) c.2172T>A (n.2172T>A) c.*3134T>A (n.*3134T>A) c.4101T>A (n.4101T>A) c.2084T>A (p.Val695Asp) c.4823T>A (p.Val1608Asp) c.4583T>A (p.Val1528Asp) c.4394T>A (p.Val1465Asp) c.3323T>A (p.Val1108Asp) c.*101T>A (n.*101T>A) n.4861T>A c.4580T>A (p.Val1527Asp) c.4181T>A (p.Val1394Asp) c.3758T>A (p.Val1253Asp) c.2714T>A (p.Val905Asp) c.4043T>A (p.Val1348Asp) n.4891T>A | |
18 | g.70059975_70059976del | CA630873152 | RTTN | c.4819_4820del (p.Val1607PhefsTer?) c.906_907del (p.Leu304ValfsTer?) n.2365_2366del c.2218_2219del (p.Val740PhefsTer?) c.2171_2172del (n.2171_2172del) c.*3133_*3134del (n.*3133_*3134del) c.4100_4101del (n.4100_4101del) c.2083_2084del (p.Val695PhefsTer?) c.4822_4823del (p.Val1608PhefsTer?) c.4582_4583del (p.Val1528PhefsTer?) c.4393_4394del (p.Val1465PhefsTer?) c.3322_3323del (p.Val1108PhefsTer?) c.*100_*101del (n.*100_*101del) n.4860_4861del c.4579_4580del (p.Val1527PhefsTer?) c.4180_4181del (p.Val1394PhefsTer?) c.3757_3758del (p.Val1253PhefsTer?) c.2713_2714del (p.Val905PhefsTer?) c.4042_4043del (p.Val1348PhefsTer?) n.4890_4891del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.70059971C>A | CA402694836 | RTTN | c.4819G>T (p.Val1607Phe) c.906G>T (p.Val302=) n.2365G>T c.2218G>T (p.Val740Phe) c.2171G>T (n.2171G>T) c.*3133G>T (n.*3133G>T) c.4100G>T (n.4100G>T) c.2083G>T (p.Val695Phe) c.4822G>T (p.Val1608Phe) c.4582G>T (p.Val1528Phe) c.4393G>T (p.Val1465Phe) c.3322G>T (p.Val1108Phe) c.*100G>T (n.*100G>T) n.4860G>T c.4579G>T (p.Val1527Phe) c.4180G>T (p.Val1394Phe) c.3757G>T (p.Val1253Phe) c.2713G>T (p.Val905Phe) c.4042G>T (p.Val1348Phe) n.4890G>T | |
18 | g.70059971C>G | CA402694839 | RTTN | c.4819G>C (p.Val1607Leu) c.906G>C (p.Val302=) n.2365G>C c.2218G>C (p.Val740Leu) c.2171G>C (n.2171G>C) c.*3133G>C (n.*3133G>C) c.4100G>C (n.4100G>C) c.2083G>C (p.Val695Leu) c.4822G>C (p.Val1608Leu) c.4582G>C (p.Val1528Leu) c.4393G>C (p.Val1465Leu) c.3322G>C (p.Val1108Leu) c.*100G>C (n.*100G>C) n.4860G>C c.4579G>C (p.Val1527Leu) c.4180G>C (p.Val1394Leu) c.3757G>C (p.Val1253Leu) c.2713G>C (p.Val905Leu) c.4042G>C (p.Val1348Leu) n.4890G>C | |
18 | g.70059971C>T | CA402694838 | RTTN | c.4819G>A (p.Val1607Ile) c.906G>A (p.Val302=) n.2365G>A c.2218G>A (p.Val740Ile) c.2171G>A (n.2171G>A) c.*3133G>A (n.*3133G>A) c.4100G>A (n.4100G>A) c.2083G>A (p.Val695Ile) c.4822G>A (p.Val1608Ile) c.4582G>A (p.Val1528Ile) c.4393G>A (p.Val1465Ile) c.3322G>A (p.Val1108Ile) c.*100G>A (n.*100G>A) n.4860G>A c.4579G>A (p.Val1527Ile) c.4180G>A (p.Val1394Ile) c.3757G>A (p.Val1253Ile) c.2713G>A (p.Val905Ile) c.4042G>A (p.Val1348Ile) n.4890G>A | |
18 | g.70059972A>C | CA402694841 | RTTN | c.4818T>G (p.Cys1606Trp) c.905T>G (p.Val302Gly) n.2364T>G c.2217T>G (p.Cys739Trp) c.2170T>G (n.2170T>G) c.*3132T>G (n.*3132T>G) c.4099T>G (n.4099T>G) c.2082T>G (p.Cys694Trp) c.4821T>G (p.Cys1607Trp) c.4581T>G (p.Cys1527Trp) c.4392T>G (p.Cys1464Trp) c.3321T>G (p.Cys1107Trp) c.*99T>G (n.*99T>G) n.4859T>G c.4578T>G (p.Cys1526Trp) c.4179T>G (p.Cys1393Trp) c.3756T>G (p.Cys1252Trp) c.2712T>G (p.Cys904Trp) c.4041T>G (p.Cys1347Trp) n.4889T>G | |
18 | g.70059972A>G | CA504323459 | RTTN | c.4818T>C (p.Cys1606=) c.905T>C (p.Val302Ala) n.2364T>C c.2217T>C (p.Cys739=) c.2170T>C (n.2170T>C) c.*3132T>C (n.*3132T>C) c.4099T>C (n.4099T>C) c.2082T>C (p.Cys694=) c.4821T>C (p.Cys1607=) c.4581T>C (p.Cys1527=) c.4392T>C (p.Cys1464=) c.3321T>C (p.Cys1107=) c.*99T>C (n.*99T>C) n.4859T>C c.4578T>C (p.Cys1526=) c.4179T>C (p.Cys1393=) c.3756T>C (p.Cys1252=) c.2712T>C (p.Cys904=) c.4041T>C (p.Cys1347=) n.4889T>C | ClinVar |
18 | g.70059972A>T | CA402694844 | RTTN | c.4818T>A (p.Cys1606Ter) c.905T>A (p.Val302Glu) n.2364T>A c.2217T>A (p.Cys739Ter) c.2170T>A (n.2170T>A) c.*3132T>A (n.*3132T>A) c.4099T>A (n.4099T>A) c.2082T>A (p.Cys694Ter) c.4821T>A (p.Cys1607Ter) c.4581T>A (p.Cys1527Ter) c.4392T>A (p.Cys1464Ter) c.3321T>A (p.Cys1107Ter) c.*99T>A (n.*99T>A) n.4859T>A c.4578T>A (p.Cys1526Ter) c.4179T>A (p.Cys1393Ter) c.3756T>A (p.Cys1252Ter) c.2712T>A (p.Cys904Ter) c.4041T>A (p.Cys1347Ter) n.4889T>A | |
18 | g.70059973C>A | CA402694848 | RTTN | c.4817G>T (p.Cys1606Phe) c.904G>T (p.Val302Leu) n.2363G>T c.2216G>T (p.Cys739Phe) c.2169G>T (n.2169G>T) c.*3131G>T (n.*3131G>T) c.4098G>T (n.4098G>T) c.2081G>T (p.Cys694Phe) c.4820G>T (p.Cys1607Phe) c.4580G>T (p.Cys1527Phe) c.4391G>T (p.Cys1464Phe) c.3320G>T (p.Cys1107Phe) c.*98G>T (n.*98G>T) n.4858G>T c.4577G>T (p.Cys1526Phe) c.4178G>T (p.Cys1393Phe) c.3755G>T (p.Cys1252Phe) c.2711G>T (p.Cys904Phe) c.4040G>T (p.Cys1347Phe) n.4888G>T | |
18 | g.70059973C>G | CA402694850 | RTTN | c.4817G>C (p.Cys1606Ser) c.904G>C (p.Val302Leu) n.2363G>C c.2216G>C (p.Cys739Ser) c.2169G>C (n.2169G>C) c.*3131G>C (n.*3131G>C) c.4098G>C (n.4098G>C) c.2081G>C (p.Cys694Ser) c.4820G>C (p.Cys1607Ser) c.4580G>C (p.Cys1527Ser) c.4391G>C (p.Cys1464Ser) c.3320G>C (p.Cys1107Ser) c.*98G>C (n.*98G>C) n.4858G>C c.4577G>C (p.Cys1526Ser) c.4178G>C (p.Cys1393Ser) c.3755G>C (p.Cys1252Ser) c.2711G>C (p.Cys904Ser) c.4040G>C (p.Cys1347Ser) n.4888G>C | |
18 | g.70059973C>T | CA402694855 | RTTN | c.4817G>A (p.Cys1606Tyr) c.904G>A (p.Val302Met) n.2363G>A c.2216G>A (p.Cys739Tyr) c.2169G>A (n.2169G>A) c.*3131G>A (n.*3131G>A) c.4098G>A (n.4098G>A) c.2081G>A (p.Cys694Tyr) c.4820G>A (p.Cys1607Tyr) c.4580G>A (p.Cys1527Tyr) c.4391G>A (p.Cys1464Tyr) c.3320G>A (p.Cys1107Tyr) c.*98G>A (n.*98G>A) n.4858G>A c.4577G>A (p.Cys1526Tyr) c.4178G>A (p.Cys1393Tyr) c.3755G>A (p.Cys1252Tyr) c.2711G>A (p.Cys904Tyr) c.4040G>A (p.Cys1347Tyr) n.4888G>A | |
18 | g.70059974A= | CA2311957311 | RTTN | c.4816T= (p.Cys1606=) c.903T= (p.Cys301=) n.2362T= c.2215T= (p.Cys739=) c.2168T= (n.2168T=) c.*3130T= (n.*3130T=) c.4097T= (n.4097T=) c.2080T= (p.Cys694=) c.4819T= (p.Cys1607=) c.4579T= (p.Cys1527=) c.4390T= (p.Cys1464=) c.3319T= (p.Cys1107=) c.*97T= (n.*97T=) n.4857T= c.4576T= (p.Cys1526=) c.4177T= (p.Cys1393=) c.3754T= (p.Cys1252=) c.2710T= (p.Cys904=) c.4039T= (p.Cys1347=) n.4887T= | |
18 | g.70059974A>C | CA402694861 | RTTN | c.4816T>G (p.Cys1606Gly) c.903T>G (p.Cys301Trp) n.2362T>G c.2215T>G (p.Cys739Gly) c.2168T>G (n.2168T>G) c.*3130T>G (n.*3130T>G) c.4097T>G (n.4097T>G) c.2080T>G (p.Cys694Gly) c.4819T>G (p.Cys1607Gly) c.4579T>G (p.Cys1527Gly) c.4390T>G (p.Cys1464Gly) c.3319T>G (p.Cys1107Gly) c.*97T>G (n.*97T>G) n.4857T>G c.4576T>G (p.Cys1526Gly) c.4177T>G (p.Cys1393Gly) c.3754T>G (p.Cys1252Gly) c.2710T>G (p.Cys904Gly) c.4039T>G (p.Cys1347Gly) n.4887T>G | |
18 | g.70059974A>G | CA402694862 | RTTN | c.4816T>C (p.Cys1606Arg) c.903T>C (p.Cys301=) n.2362T>C c.2215T>C (p.Cys739Arg) c.2168T>C (n.2168T>C) c.*3130T>C (n.*3130T>C) c.4097T>C (n.4097T>C) c.2080T>C (p.Cys694Arg) c.4819T>C (p.Cys1607Arg) c.4579T>C (p.Cys1527Arg) c.4390T>C (p.Cys1464Arg) c.3319T>C (p.Cys1107Arg) c.*97T>C (n.*97T>C) n.4857T>C c.4576T>C (p.Cys1526Arg) c.4177T>C (p.Cys1393Arg) c.3754T>C (p.Cys1252Arg) c.2710T>C (p.Cys904Arg) c.4039T>C (p.Cys1347Arg) n.4887T>C | dbSNP gnomAD v2 |
18 | g.70059974A>T | CA402694859 | RTTN | c.4816T>A (p.Cys1606Ser) c.903T>A (p.Cys301Ter) n.2362T>A c.2215T>A (p.Cys739Ser) c.2168T>A (n.2168T>A) c.*3130T>A (n.*3130T>A) c.4097T>A (n.4097T>A) c.2080T>A (p.Cys694Ser) c.4819T>A (p.Cys1607Ser) c.4579T>A (p.Cys1527Ser) c.4390T>A (p.Cys1464Ser) c.3319T>A (p.Cys1107Ser) c.*97T>A (n.*97T>A) n.4857T>A c.4576T>A (p.Cys1526Ser) c.4177T>A (p.Cys1393Ser) c.3754T>A (p.Cys1252Ser) c.2710T>A (p.Cys904Ser) c.4039T>A (p.Cys1347Ser) n.4887T>A | |
18 | g.70059975C>A | CA504323462 | RTTN | c.4815G>T (p.Leu1605=) c.902G>T (p.Cys301Phe) n.2361G>T c.2214G>T (p.Leu738=) c.2167G>T (n.2167G>T) c.*3129G>T (n.*3129G>T) c.4096G>T (n.4096G>T) c.2079G>T (p.Leu693=) c.4818G>T (p.Leu1606=) c.4578G>T (p.Leu1526=) c.4389G>T (p.Leu1463=) c.3318G>T (p.Leu1106=) c.*96G>T (n.*96G>T) n.4856G>T c.4575G>T (p.Leu1525=) c.4176G>T (p.Leu1392=) c.3753G>T (p.Leu1251=) c.2709G>T (p.Leu903=) c.4038G>T (p.Leu1346=) n.4886G>T | |
18 | g.70059975C>G | CA504323463 | RTTN | c.4815G>C (p.Leu1605=) c.902G>C (p.Cys301Ser) n.2361G>C c.2214G>C (p.Leu738=) c.2167G>C (n.2167G>C) c.*3129G>C (n.*3129G>C) c.4096G>C (n.4096G>C) c.2079G>C (p.Leu693=) c.4818G>C (p.Leu1606=) c.4578G>C (p.Leu1526=) c.4389G>C (p.Leu1463=) c.3318G>C (p.Leu1106=) c.*96G>C (n.*96G>C) n.4856G>C c.4575G>C (p.Leu1525=) c.4176G>C (p.Leu1392=) c.3753G>C (p.Leu1251=) c.2709G>C (p.Leu903=) c.4038G>C (p.Leu1346=) n.4886G>C | |
18 | g.70059975C>T | CA504323464 | RTTN | c.4815G>A (p.Leu1605=) c.902G>A (p.Cys301Tyr) n.2361G>A c.2214G>A (p.Leu738=) c.2167G>A (n.2167G>A) c.*3129G>A (n.*3129G>A) c.4096G>A (n.4096G>A) c.2079G>A (p.Leu693=) c.4818G>A (p.Leu1606=) c.4578G>A (p.Leu1526=) c.4389G>A (p.Leu1463=) c.3318G>A (p.Leu1106=) c.*96G>A (n.*96G>A) n.4856G>A c.4575G>A (p.Leu1525=) c.4176G>A (p.Leu1392=) c.3753G>A (p.Leu1251=) c.2709G>A (p.Leu903=) c.4038G>A (p.Leu1346=) n.4886G>A | |
18 | g.70059976A= | CA2311957312 | RTTN | c.4814T= (p.Leu1605=) c.901T= (p.Cys301=) n.2360T= c.2213T= (p.Leu738=) c.2166T= (n.2166T=) c.*3128T= (n.*3128T=) c.4095T= (n.4095T=) c.2078T= (p.Leu693=) c.4817T= (p.Leu1606=) c.4577T= (p.Leu1526=) c.4388T= (p.Leu1463=) c.3317T= (p.Leu1106=) c.*95T= (n.*95T=) n.4855T= c.4574T= (p.Leu1525=) c.4175T= (p.Leu1392=) c.3752T= (p.Leu1251=) c.2708T= (p.Leu903=) c.4037T= (p.Leu1346=) n.4885T= | |
18 | g.70059976A>C | CA402694863 | RTTN | c.4814T>G (p.Leu1605Arg) c.901T>G (p.Cys301Gly) n.2360T>G c.2213T>G (p.Leu738Arg) c.2166T>G (n.2166T>G) c.*3128T>G (n.*3128T>G) c.4095T>G (n.4095T>G) c.2078T>G (p.Leu693Arg) c.4817T>G (p.Leu1606Arg) c.4577T>G (p.Leu1526Arg) c.4388T>G (p.Leu1463Arg) c.3317T>G (p.Leu1106Arg) c.*95T>G (n.*95T>G) n.4855T>G c.4574T>G (p.Leu1525Arg) c.4175T>G (p.Leu1392Arg) c.3752T>G (p.Leu1251Arg) c.2708T>G (p.Leu903Arg) c.4037T>G (p.Leu1346Arg) n.4885T>G | |
18 | g.70059976A>G | CA402694864 | RTTN | c.4814T>C (p.Leu1605Pro) c.901T>C (p.Cys301Arg) n.2360T>C c.2213T>C (p.Leu738Pro) c.2166T>C (n.2166T>C) c.*3128T>C (n.*3128T>C) c.4095T>C (n.4095T>C) c.2078T>C (p.Leu693Pro) c.4817T>C (p.Leu1606Pro) c.4577T>C (p.Leu1526Pro) c.4388T>C (p.Leu1463Pro) c.3317T>C (p.Leu1106Pro) c.*95T>C (n.*95T>C) n.4855T>C c.4574T>C (p.Leu1525Pro) c.4175T>C (p.Leu1392Pro) c.3752T>C (p.Leu1251Pro) c.2708T>C (p.Leu903Pro) c.4037T>C (p.Leu1346Pro) n.4885T>C | dbSNP gnomAD v3 gnomAD v4 |
18 | g.70059976A>T | CA402694865 | RTTN | c.4814T>A (p.Leu1605Gln) c.901T>A (p.Cys301Ser) n.2360T>A c.2213T>A (p.Leu738Gln) c.2166T>A (n.2166T>A) c.*3128T>A (n.*3128T>A) c.4095T>A (n.4095T>A) c.2078T>A (p.Leu693Gln) c.4817T>A (p.Leu1606Gln) c.4577T>A (p.Leu1526Gln) c.4388T>A (p.Leu1463Gln) c.3317T>A (p.Leu1106Gln) c.*95T>A (n.*95T>A) n.4855T>A c.4574T>A (p.Leu1525Gln) c.4175T>A (p.Leu1392Gln) c.3752T>A (p.Leu1251Gln) c.2708T>A (p.Leu903Gln) c.4037T>A (p.Leu1346Gln) n.4885T>A | |
18 | g.70059977G>A | CA504323468 | RTTN | c.4813C>T (p.Leu1605=) c.900C>T (p.Asn300=) n.2359C>T c.2212C>T (p.Leu738=) c.2165C>T (n.2165C>T) c.*3127C>T (n.*3127C>T) c.4094C>T (n.4094C>T) c.2077C>T (p.Leu693=) c.4816C>T (p.Leu1606=) c.4576C>T (p.Leu1526=) c.4387C>T (p.Leu1463=) c.3316C>T (p.Leu1106=) c.*94C>T (n.*94C>T) n.4854C>T c.4573C>T (p.Leu1525=) c.4174C>T (p.Leu1392=) c.3751C>T (p.Leu1251=) c.2707C>T (p.Leu903=) c.4036C>T (p.Leu1346=) n.4884C>T | dbSNP gnomAD v3 gnomAD v4 |
18 | g.70059977G>C | CA402694866 | RTTN | c.4813C>G (p.Leu1605Val) c.900C>G (p.Asn300Lys) n.2359C>G c.2212C>G (p.Leu738Val) c.2165C>G (n.2165C>G) c.*3127C>G (n.*3127C>G) c.4094C>G (n.4094C>G) c.2077C>G (p.Leu693Val) c.4816C>G (p.Leu1606Val) c.4576C>G (p.Leu1526Val) c.4387C>G (p.Leu1463Val) c.3316C>G (p.Leu1106Val) c.*94C>G (n.*94C>G) n.4854C>G c.4573C>G (p.Leu1525Val) c.4174C>G (p.Leu1392Val) c.3751C>G (p.Leu1251Val) c.2707C>G (p.Leu903Val) c.4036C>G (p.Leu1346Val) n.4884C>G | |
18 | g.70059977G= | CA2311957313 | RTTN | c.4813C= (p.Leu1605=) c.900C= (p.Asn300=) n.2359C= c.2212C= (p.Leu738=) c.2165C= (n.2165C=) c.*3127C= (n.*3127C=) c.4094C= (n.4094C=) c.2077C= (p.Leu693=) c.4816C= (p.Leu1606=) c.4576C= (p.Leu1526=) c.4387C= (p.Leu1463=) c.3316C= (p.Leu1106=) c.*94C= (n.*94C=) n.4854C= c.4573C= (p.Leu1525=) c.4174C= (p.Leu1392=) c.3751C= (p.Leu1251=) c.2707C= (p.Leu903=) c.4036C= (p.Leu1346=) n.4884C= | |
18 | g.70059977G>T | CA402694869 | RTTN | c.4813C>A (p.Leu1605Met) c.900C>A (p.Asn300Lys) n.2359C>A c.2212C>A (p.Leu738Met) c.2165C>A (n.2165C>A) c.*3127C>A (n.*3127C>A) c.4094C>A (n.4094C>A) c.2077C>A (p.Leu693Met) c.4816C>A (p.Leu1606Met) c.4576C>A (p.Leu1526Met) c.4387C>A (p.Leu1463Met) c.3316C>A (p.Leu1106Met) c.*94C>A (n.*94C>A) n.4854C>A c.4573C>A (p.Leu1525Met) c.4174C>A (p.Leu1392Met) c.3751C>A (p.Leu1251Met) c.2707C>A (p.Leu903Met) c.4036C>A (p.Leu1346Met) n.4884C>A | |
18 | g.70059978T>A | CA402694871 | RTTN | c.4812A>T (p.Lys1604Asn) c.899A>T (p.Asn300Ile) n.2358A>T c.2211A>T (p.Lys737Asn) c.2164A>T (n.2164A>T) c.*3126A>T (n.*3126A>T) c.4093A>T (n.4093A>T) c.2076A>T (p.Lys692Asn) c.4815A>T (p.Lys1605Asn) c.4575A>T (p.Lys1525Asn) c.4386A>T (p.Lys1462Asn) c.3315A>T (p.Lys1105Asn) c.*93A>T (n.*93A>T) n.4853A>T c.4572A>T (p.Lys1524Asn) c.4173A>T (p.Lys1391Asn) c.3750A>T (p.Lys1250Asn) c.2706A>T (p.Lys902Asn) c.4035A>T (p.Lys1345Asn) n.4883A>T | |
18 | g.70059978T>C | CA504323469 | RTTN | c.4812A>G (p.Lys1604=) c.899A>G (p.Asn300Ser) n.2358A>G c.2211A>G (p.Lys737=) c.2164A>G (n.2164A>G) c.*3126A>G (n.*3126A>G) c.4093A>G (n.4093A>G) c.2076A>G (p.Lys692=) c.4815A>G (p.Lys1605=) c.4575A>G (p.Lys1525=) c.4386A>G (p.Lys1462=) c.3315A>G (p.Lys1105=) c.*93A>G (n.*93A>G) n.4853A>G c.4572A>G (p.Lys1524=) c.4173A>G (p.Lys1391=) c.3750A>G (p.Lys1250=) c.2706A>G (p.Lys902=) c.4035A>G (p.Lys1345=) n.4883A>G | COSMIC |
18 | g.70059978T>G | CA402694874 | RTTN | c.4812A>C (p.Lys1604Asn) c.899A>C (p.Asn300Thr) n.2358A>C c.2211A>C (p.Lys737Asn) c.2164A>C (n.2164A>C) c.*3126A>C (n.*3126A>C) c.4093A>C (n.4093A>C) c.2076A>C (p.Lys692Asn) c.4815A>C (p.Lys1605Asn) c.4575A>C (p.Lys1525Asn) c.4386A>C (p.Lys1462Asn) c.3315A>C (p.Lys1105Asn) c.*93A>C (n.*93A>C) n.4853A>C c.4572A>C (p.Lys1524Asn) c.4173A>C (p.Lys1391Asn) c.3750A>C (p.Lys1250Asn) c.2706A>C (p.Lys902Asn) c.4035A>C (p.Lys1345Asn) n.4883A>C | |
18 | g.70059979T>A | CA402694878 | RTTN | c.4811A>T (p.Lys1604Ile) c.898A>T (p.Asn300Tyr) n.2357A>T c.2210A>T (p.Lys737Ile) c.2163A>T (n.2163A>T) c.*3125A>T (n.*3125A>T) c.4092A>T (n.4092A>T) c.2075A>T (p.Lys692Ile) c.4814A>T (p.Lys1605Ile) c.4574A>T (p.Lys1525Ile) c.4385A>T (p.Lys1462Ile) c.3314A>T (p.Lys1105Ile) c.*92A>T (n.*92A>T) n.4852A>T c.4571A>T (p.Lys1524Ile) c.4172A>T (p.Lys1391Ile) c.3749A>T (p.Lys1250Ile) c.2705A>T (p.Lys902Ile) c.4034A>T (p.Lys1345Ile) n.4882A>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
18 | g.70059979T>C | CA402694881 | RTTN | c.4811A>G (p.Lys1604Arg) c.898A>G (p.Asn300Asp) n.2357A>G c.2210A>G (p.Lys737Arg) c.2163A>G (n.2163A>G) c.*3125A>G (n.*3125A>G) c.4092A>G (n.4092A>G) c.2075A>G (p.Lys692Arg) c.4814A>G (p.Lys1605Arg) c.4574A>G (p.Lys1525Arg) c.4385A>G (p.Lys1462Arg) c.3314A>G (p.Lys1105Arg) c.*92A>G (n.*92A>G) n.4852A>G c.4571A>G (p.Lys1524Arg) c.4172A>G (p.Lys1391Arg) c.3749A>G (p.Lys1250Arg) c.2705A>G (p.Lys902Arg) c.4034A>G (p.Lys1345Arg) n.4882A>G | dbSNP COSMIC |
18 | g.70059979T>G | CA402694884 | RTTN | c.4811A>C (p.Lys1604Thr) c.898A>C (p.Asn300His) n.2357A>C c.2210A>C (p.Lys737Thr) c.2163A>C (n.2163A>C) c.*3125A>C (n.*3125A>C) c.4092A>C (n.4092A>C) c.2075A>C (p.Lys692Thr) c.4814A>C (p.Lys1605Thr) c.4574A>C (p.Lys1525Thr) c.4385A>C (p.Lys1462Thr) c.3314A>C (p.Lys1105Thr) c.*92A>C (n.*92A>C) n.4852A>C c.4571A>C (p.Lys1524Thr) c.4172A>C (p.Lys1391Thr) c.3749A>C (p.Lys1250Thr) c.2705A>C (p.Lys902Thr) c.4034A>C (p.Lys1345Thr) n.4882A>C | |
18 | g.70059979T= | CA2311957314 | RTTN | c.4811A= (p.Lys1604=) c.898A= (p.Asn300=) n.2357A= c.2210A= (p.Lys737=) c.2163A= (n.2163A=) c.*3125A= (n.*3125A=) c.4092A= (n.4092A=) c.2075A= (p.Lys692=) c.4814A= (p.Lys1605=) c.4574A= (p.Lys1525=) c.4385A= (p.Lys1462=) c.3314A= (p.Lys1105=) c.*92A= (n.*92A=) n.4852A= c.4571A= (p.Lys1524=) c.4172A= (p.Lys1391=) c.3749A= (p.Lys1250=) c.2705A= (p.Lys902=) c.4034A= (p.Lys1345=) n.4882A= | |
18 | g.70059980T>A | CA402694889 | RTTN | c.4810A>T (p.Lys1604Ter) c.897A>T (p.Pro299=) n.2356A>T c.2209A>T (p.Lys737Ter) c.2162A>T (n.2162A>T) c.*3124A>T (n.*3124A>T) c.4091A>T (n.4091A>T) c.2074A>T (p.Lys692Ter) c.4813A>T (p.Lys1605Ter) c.4573A>T (p.Lys1525Ter) c.4384A>T (p.Lys1462Ter) c.3313A>T (p.Lys1105Ter) c.*91A>T (n.*91A>T) n.4851A>T c.4570A>T (p.Lys1524Ter) c.4171A>T (p.Lys1391Ter) c.3748A>T (p.Lys1250Ter) c.2704A>T (p.Lys902Ter) c.4033A>T (p.Lys1345Ter) n.4881A>T | |
18 | g.70059980T>C | CA402694891 | RTTN | c.4810A>G (p.Lys1604Glu) c.897A>G (p.Pro299=) n.2356A>G c.2209A>G (p.Lys737Glu) c.2162A>G (n.2162A>G) c.*3124A>G (n.*3124A>G) c.4091A>G (n.4091A>G) c.2074A>G (p.Lys692Glu) c.4813A>G (p.Lys1605Glu) c.4573A>G (p.Lys1525Glu) c.4384A>G (p.Lys1462Glu) c.3313A>G (p.Lys1105Glu) c.*91A>G (n.*91A>G) n.4851A>G c.4570A>G (p.Lys1524Glu) c.4171A>G (p.Lys1391Glu) c.3748A>G (p.Lys1250Glu) c.2704A>G (p.Lys902Glu) c.4033A>G (p.Lys1345Glu) n.4881A>G | dbSNP gnomAD v2 gnomAD v4 |
18 | g.70059980T>G | CA402694892 | RTTN | c.4810A>C (p.Lys1604Gln) c.897A>C (p.Pro299=) n.2356A>C c.2209A>C (p.Lys737Gln) c.2162A>C (n.2162A>C) c.*3124A>C (n.*3124A>C) c.4091A>C (n.4091A>C) c.2074A>C (p.Lys692Gln) c.4813A>C (p.Lys1605Gln) c.4573A>C (p.Lys1525Gln) c.4384A>C (p.Lys1462Gln) c.3313A>C (p.Lys1105Gln) c.*91A>C (n.*91A>C) n.4851A>C c.4570A>C (p.Lys1524Gln) c.4171A>C (p.Lys1391Gln) c.3748A>C (p.Lys1250Gln) c.2704A>C (p.Lys902Gln) c.4033A>C (p.Lys1345Gln) n.4881A>C | |
18 | g.70059980T= | CA2311957315 | RTTN | c.4810A= (p.Lys1604=) c.897A= (p.Pro299=) n.2356A= c.2209A= (p.Lys737=) c.2162A= (n.2162A=) c.*3124A= (n.*3124A=) c.4091A= (n.4091A=) c.2074A= (p.Lys692=) c.4813A= (p.Lys1605=) c.4573A= (p.Lys1525=) c.4384A= (p.Lys1462=) c.3313A= (p.Lys1105=) c.*91A= (n.*91A=) n.4851A= c.4570A= (p.Lys1524=) c.4171A= (p.Lys1391=) c.3748A= (p.Lys1250=) c.2704A= (p.Lys902=) c.4033A= (p.Lys1345=) n.4881A= | |
18 | g.70059981G>A | CA504323473 | RTTN | c.4809C>T (p.Pro1603=) c.896C>T (p.Pro299Leu) n.2355C>T c.2208C>T (p.Pro736=) c.2161C>T (n.2161C>T) c.*3123C>T (n.*3123C>T) c.4090C>T (n.4090C>T) c.2073C>T (p.Pro691=) c.4812C>T (p.Pro1604=) c.4572C>T (p.Pro1524=) c.4383C>T (p.Pro1461=) c.3312C>T (p.Pro1104=) c.*90C>T (n.*90C>T) n.4850C>T c.4569C>T (p.Pro1523=) c.4170C>T (p.Pro1390=) c.3747C>T (p.Pro1249=) c.2703C>T (p.Pro901=) c.4032C>T (p.Pro1344=) n.4880C>T | |
18 | g.70059981G>C | CA504323474 | RTTN | c.4809C>G (p.Pro1603=) c.896C>G (p.Pro299Arg) n.2355C>G c.2208C>G (p.Pro736=) c.2161C>G (n.2161C>G) c.*3123C>G (n.*3123C>G) c.4090C>G (n.4090C>G) c.2073C>G (p.Pro691=) c.4812C>G (p.Pro1604=) c.4572C>G (p.Pro1524=) c.4383C>G (p.Pro1461=) c.3312C>G (p.Pro1104=) c.*90C>G (n.*90C>G) n.4850C>G c.4569C>G (p.Pro1523=) c.4170C>G (p.Pro1390=) c.3747C>G (p.Pro1249=) c.2703C>G (p.Pro901=) c.4032C>G (p.Pro1344=) n.4880C>G | |
18 | g.70059981G>T | CA504323475 | RTTN | c.4809C>A (p.Pro1603=) c.896C>A (p.Pro299Gln) n.2355C>A c.2208C>A (p.Pro736=) c.2161C>A (n.2161C>A) c.*3123C>A (n.*3123C>A) c.4090C>A (n.4090C>A) c.2073C>A (p.Pro691=) c.4812C>A (p.Pro1604=) c.4572C>A (p.Pro1524=) c.4383C>A (p.Pro1461=) c.3312C>A (p.Pro1104=) c.*90C>A (n.*90C>A) n.4850C>A c.4569C>A (p.Pro1523=) c.4170C>A (p.Pro1390=) c.3747C>A (p.Pro1249=) c.2703C>A (p.Pro901=) c.4032C>A (p.Pro1344=) n.4880C>A | |
18 | g.70059982G>A | CA402694905 | RTTN | c.4808C>T (p.Pro1603Leu) c.895C>T (p.Pro299Ser) n.2354C>T c.2207C>T (p.Pro736Leu) c.2160C>T (n.2160C>T) c.*3122C>T (n.*3122C>T) c.4089C>T (n.4089C>T) c.2072C>T (p.Pro691Leu) c.4811C>T (p.Pro1604Leu) c.4571C>T (p.Pro1524Leu) c.4382C>T (p.Pro1461Leu) c.3311C>T (p.Pro1104Leu) c.*89C>T (n.*89C>T) n.4849C>T c.4568C>T (p.Pro1523Leu) c.4169C>T (p.Pro1390Leu) c.3746C>T (p.Pro1249Leu) c.2702C>T (p.Pro901Leu) c.4031C>T (p.Pro1344Leu) n.4879C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.70059982G>C | CA402694899 | RTTN | c.4808C>G (p.Pro1603Arg) c.895C>G (p.Pro299Ala) n.2354C>G c.2207C>G (p.Pro736Arg) c.2160C>G (n.2160C>G) c.*3122C>G (n.*3122C>G) c.4089C>G (n.4089C>G) c.2072C>G (p.Pro691Arg) c.4811C>G (p.Pro1604Arg) c.4571C>G (p.Pro1524Arg) c.4382C>G (p.Pro1461Arg) c.3311C>G (p.Pro1104Arg) c.*89C>G (n.*89C>G) n.4849C>G c.4568C>G (p.Pro1523Arg) c.4169C>G (p.Pro1390Arg) c.3746C>G (p.Pro1249Arg) c.2702C>G (p.Pro901Arg) c.4031C>G (p.Pro1344Arg) n.4879C>G | |
18 | g.70059982G= | CA2311957316 | RTTN | c.4808C= (p.Pro1603=) c.895C= (p.Pro299=) n.2354C= c.2207C= (p.Pro736=) c.2160C= (n.2160C=) c.*3122C= (n.*3122C=) c.4089C= (n.4089C=) c.2072C= (p.Pro691=) c.4811C= (p.Pro1604=) c.4571C= (p.Pro1524=) c.4382C= (p.Pro1461=) c.3311C= (p.Pro1104=) c.*89C= (n.*89C=) n.4849C= c.4568C= (p.Pro1523=) c.4169C= (p.Pro1390=) c.3746C= (p.Pro1249=) c.2702C= (p.Pro901=) c.4031C= (p.Pro1344=) n.4879C= | |
18 | g.70059982G>T | CA402694896 | RTTN | c.4808C>A (p.Pro1603His) c.895C>A (p.Pro299Thr) n.2354C>A c.2207C>A (p.Pro736His) c.2160C>A (n.2160C>A) c.*3122C>A (n.*3122C>A) c.4089C>A (n.4089C>A) c.2072C>A (p.Pro691His) c.4811C>A (p.Pro1604His) c.4571C>A (p.Pro1524His) c.4382C>A (p.Pro1461His) c.3311C>A (p.Pro1104His) c.*89C>A (n.*89C>A) n.4849C>A c.4568C>A (p.Pro1523His) c.4169C>A (p.Pro1390His) c.3746C>A (p.Pro1249His) c.2702C>A (p.Pro901His) c.4031C>A (p.Pro1344His) n.4879C>A | |
18 | g.70059983G>A | CA402694907 | RTTN | c.4807C>T (p.Pro1603Ser) c.894C>T (p.Cys298=) n.2353C>T c.2206C>T (p.Pro736Ser) c.2159C>T (n.2159C>T) c.*3121C>T (n.*3121C>T) c.4088C>T (n.4088C>T) c.2071C>T (p.Pro691Ser) c.4810C>T (p.Pro1604Ser) c.4570C>T (p.Pro1524Ser) c.4381C>T (p.Pro1461Ser) c.3310C>T (p.Pro1104Ser) c.*88C>T (n.*88C>T) n.4848C>T c.4567C>T (p.Pro1523Ser) c.4168C>T (p.Pro1390Ser) c.3745C>T (p.Pro1249Ser) c.2701C>T (p.Pro901Ser) c.4030C>T (p.Pro1344Ser) n.4878C>T | |
18 | g.70059983G>C | CA402694909 | RTTN | c.4807C>G (p.Pro1603Ala) c.894C>G (p.Cys298Trp) n.2353C>G c.2206C>G (p.Pro736Ala) c.2159C>G (n.2159C>G) c.*3121C>G (n.*3121C>G) c.4088C>G (n.4088C>G) c.2071C>G (p.Pro691Ala) c.4810C>G (p.Pro1604Ala) c.4570C>G (p.Pro1524Ala) c.4381C>G (p.Pro1461Ala) c.3310C>G (p.Pro1104Ala) c.*88C>G (n.*88C>G) n.4848C>G c.4567C>G (p.Pro1523Ala) c.4168C>G (p.Pro1390Ala) c.3745C>G (p.Pro1249Ala) c.2701C>G (p.Pro901Ala) c.4030C>G (p.Pro1344Ala) n.4878C>G | |
18 | g.70059983G>T | CA402694910 | RTTN | c.4807C>A (p.Pro1603Thr) c.894C>A (p.Cys298Ter) n.2353C>A c.2206C>A (p.Pro736Thr) c.2159C>A (n.2159C>A) c.*3121C>A (n.*3121C>A) c.4088C>A (n.4088C>A) c.2071C>A (p.Pro691Thr) c.4810C>A (p.Pro1604Thr) c.4570C>A (p.Pro1524Thr) c.4381C>A (p.Pro1461Thr) c.3310C>A (p.Pro1104Thr) c.*88C>A (n.*88C>A) n.4848C>A c.4567C>A (p.Pro1523Thr) c.4168C>A (p.Pro1390Thr) c.3745C>A (p.Pro1249Thr) c.2701C>A (p.Pro901Thr) c.4030C>A (p.Pro1344Thr) n.4878C>A | |
18 | g.70059984C>A | CA504323479 | RTTN | c.4806G>T (p.Leu1602=) c.893G>T (p.Cys298Phe) n.2352G>T c.2205G>T (p.Leu735=) c.2158G>T (n.2158G>T) c.*3120G>T (n.*3120G>T) c.4087G>T (n.4087G>T) c.2070G>T (p.Leu690=) c.4809G>T (p.Leu1603=) c.4569G>T (p.Leu1523=) c.4380G>T (p.Leu1460=) c.3309G>T (p.Leu1103=) c.*87G>T (n.*87G>T) n.4847G>T c.4566G>T (p.Leu1522=) c.4167G>T (p.Leu1389=) c.3744G>T (p.Leu1248=) c.2700G>T (p.Leu900=) c.4029G>T (p.Leu1343=) n.4877G>T | |
18 | g.70059984C= | CA2311957317 | RTTN | c.4806G= (p.Leu1602=) c.893G= (p.Cys298=) n.2352G= c.2205G= (p.Leu735=) c.2158G= (n.2158G=) c.*3120G= (n.*3120G=) c.4087G= (n.4087G=) c.2070G= (p.Leu690=) c.4809G= (p.Leu1603=) c.4569G= (p.Leu1523=) c.4380G= (p.Leu1460=) c.3309G= (p.Leu1103=) c.*87G= (n.*87G=) n.4847G= c.4566G= (p.Leu1522=) c.4167G= (p.Leu1389=) c.3744G= (p.Leu1248=) c.2700G= (p.Leu900=) c.4029G= (p.Leu1343=) n.4877G= | |
18 | g.70059984C>G | CA504323483 | RTTN | c.4806G>C (p.Leu1602=) c.893G>C (p.Cys298Ser) n.2352G>C c.2205G>C (p.Leu735=) c.2158G>C (n.2158G>C) c.*3120G>C (n.*3120G>C) c.4087G>C (n.4087G>C) c.2070G>C (p.Leu690=) c.4809G>C (p.Leu1603=) c.4569G>C (p.Leu1523=) c.4380G>C (p.Leu1460=) c.3309G>C (p.Leu1103=) c.*87G>C (n.*87G>C) n.4847G>C c.4566G>C (p.Leu1522=) c.4167G>C (p.Leu1389=) c.3744G>C (p.Leu1248=) c.2700G>C (p.Leu900=) c.4029G>C (p.Leu1343=) n.4877G>C | |
18 | g.70059984C>T | CA504323480 | RTTN | c.4806G>A (p.Leu1602=) c.893G>A (p.Cys298Tyr) n.2352G>A c.2205G>A (p.Leu735=) c.2158G>A (n.2158G>A) c.*3120G>A (n.*3120G>A) c.4087G>A (n.4087G>A) c.2070G>A (p.Leu690=) c.4809G>A (p.Leu1603=) c.4569G>A (p.Leu1523=) c.4380G>A (p.Leu1460=) c.3309G>A (p.Leu1103=) c.*87G>A (n.*87G>A) n.4847G>A c.4566G>A (p.Leu1522=) c.4167G>A (p.Leu1389=) c.3744G>A (p.Leu1248=) c.2700G>A (p.Leu900=) c.4029G>A (p.Leu1343=) n.4877G>A | dbSNP |
18 | g.70059985A>C | CA402694914 | RTTN | c.4805T>G (p.Leu1602Arg) c.892T>G (p.Cys298Gly) n.2351T>G c.2204T>G (p.Leu735Arg) c.2157T>G (n.2157T>G) c.*3119T>G (n.*3119T>G) c.4086T>G (n.4086T>G) c.2069T>G (p.Leu690Arg) c.4808T>G (p.Leu1603Arg) c.4568T>G (p.Leu1523Arg) c.4379T>G (p.Leu1460Arg) c.3308T>G (p.Leu1103Arg) c.*86T>G (n.*86T>G) n.4846T>G c.4565T>G (p.Leu1522Arg) c.4166T>G (p.Leu1389Arg) c.3743T>G (p.Leu1248Arg) c.2699T>G (p.Leu900Arg) c.4028T>G (p.Leu1343Arg) n.4876T>G | |
18 | g.70059985A>G | CA402694923 | RTTN | c.4805T>C (p.Leu1602Pro) c.892T>C (p.Cys298Arg) n.2351T>C c.2204T>C (p.Leu735Pro) c.2157T>C (n.2157T>C) c.*3119T>C (n.*3119T>C) c.4086T>C (n.4086T>C) c.2069T>C (p.Leu690Pro) c.4808T>C (p.Leu1603Pro) c.4568T>C (p.Leu1523Pro) c.4379T>C (p.Leu1460Pro) c.3308T>C (p.Leu1103Pro) c.*86T>C (n.*86T>C) n.4846T>C c.4565T>C (p.Leu1522Pro) c.4166T>C (p.Leu1389Pro) c.3743T>C (p.Leu1248Pro) c.2699T>C (p.Leu900Pro) c.4028T>C (p.Leu1343Pro) n.4876T>C | gnomAD v4 |
18 | g.70059985A>T | CA402694925 | RTTN | c.4805T>A (p.Leu1602Gln) c.892T>A (p.Cys298Ser) n.2351T>A c.2204T>A (p.Leu735Gln) c.2157T>A (n.2157T>A) c.*3119T>A (n.*3119T>A) c.4086T>A (n.4086T>A) c.2069T>A (p.Leu690Gln) c.4808T>A (p.Leu1603Gln) c.4568T>A (p.Leu1523Gln) c.4379T>A (p.Leu1460Gln) c.3308T>A (p.Leu1103Gln) c.*86T>A (n.*86T>A) n.4846T>A c.4565T>A (p.Leu1522Gln) c.4166T>A (p.Leu1389Gln) c.3743T>A (p.Leu1248Gln) c.2699T>A (p.Leu900Gln) c.4028T>A (p.Leu1343Gln) n.4876T>A | |
18 | g.70059986G>A | CA504323485 | RTTN | c.4804C>T (p.Leu1602=) c.891C>T (p.Pro297=) n.2350C>T c.2203C>T (p.Leu735=) c.2156C>T (n.2156C>T) c.*3118C>T (n.*3118C>T) c.4085C>T (n.4085C>T) c.2068C>T (p.Leu690=) c.4807C>T (p.Leu1603=) c.4567C>T (p.Leu1523=) c.4378C>T (p.Leu1460=) c.3307C>T (p.Leu1103=) c.*85C>T (n.*85C>T) n.4845C>T c.4564C>T (p.Leu1522=) c.4165C>T (p.Leu1389=) c.3742C>T (p.Leu1248=) c.2698C>T (p.Leu900=) c.4027C>T (p.Leu1343=) n.4875C>T | |
18 | g.70059986G>C | CA402694928 | RTTN | c.4804C>G (p.Leu1602Val) c.891C>G (p.Pro297=) n.2350C>G c.2203C>G (p.Leu735Val) c.2156C>G (n.2156C>G) c.*3118C>G (n.*3118C>G) c.4085C>G (n.4085C>G) c.2068C>G (p.Leu690Val) c.4807C>G (p.Leu1603Val) c.4567C>G (p.Leu1523Val) c.4378C>G (p.Leu1460Val) c.3307C>G (p.Leu1103Val) c.*85C>G (n.*85C>G) n.4845C>G c.4564C>G (p.Leu1522Val) c.4165C>G (p.Leu1389Val) c.3742C>G (p.Leu1248Val) c.2698C>G (p.Leu900Val) c.4027C>G (p.Leu1343Val) n.4875C>G | |
18 | g.70059986G>T | CA402694930 | RTTN | c.4804C>A (p.Leu1602Met) c.891C>A (p.Pro297=) n.2350C>A c.2203C>A (p.Leu735Met) c.2156C>A (n.2156C>A) c.*3118C>A (n.*3118C>A) c.4085C>A (n.4085C>A) c.2068C>A (p.Leu690Met) c.4807C>A (p.Leu1603Met) c.4567C>A (p.Leu1523Met) c.4378C>A (p.Leu1460Met) c.3307C>A (p.Leu1103Met) c.*85C>A (n.*85C>A) n.4845C>A c.4564C>A (p.Leu1522Met) c.4165C>A (p.Leu1389Met) c.3742C>A (p.Leu1248Met) c.2698C>A (p.Leu900Met) c.4027C>A (p.Leu1343Met) n.4875C>A | |
18 | g.70059987G>A | CA504323486 | RTTN | c.4803C>T (p.Pro1601=) c.890C>T (p.Pro297Leu) n.2349C>T c.2202C>T (p.Pro734=) c.2155C>T (n.2155C>T) c.*3117C>T (n.*3117C>T) c.4084C>T (n.4084C>T) c.2067C>T (p.Pro689=) c.4806C>T (p.Pro1602=) c.4566C>T (p.Pro1522=) c.4377C>T (p.Pro1459=) c.3306C>T (p.Pro1102=) c.*84C>T (n.*84C>T) n.4844C>T c.4563C>T (p.Pro1521=) c.4164C>T (p.Pro1388=) c.3741C>T (p.Pro1247=) c.2697C>T (p.Pro899=) c.4026C>T (p.Pro1342=) n.4874C>T | dbSNP |
18 | g.70059987G>C | CA504323488 | RTTN | c.4803C>G (p.Pro1601=) c.890C>G (p.Pro297Arg) n.2349C>G c.2202C>G (p.Pro734=) c.2155C>G (n.2155C>G) c.*3117C>G (n.*3117C>G) c.4084C>G (n.4084C>G) c.2067C>G (p.Pro689=) c.4806C>G (p.Pro1602=) c.4566C>G (p.Pro1522=) c.4377C>G (p.Pro1459=) c.3306C>G (p.Pro1102=) c.*84C>G (n.*84C>G) n.4844C>G c.4563C>G (p.Pro1521=) c.4164C>G (p.Pro1388=) c.3741C>G (p.Pro1247=) c.2697C>G (p.Pro899=) c.4026C>G (p.Pro1342=) n.4874C>G | |
18 | g.70059987G= | CA2311957318 | RTTN | c.4803C= (p.Pro1601=) c.890C= (p.Pro297=) n.2349C= c.2202C= (p.Pro734=) c.2155C= (n.2155C=) c.*3117C= (n.*3117C=) c.4084C= (n.4084C=) c.2067C= (p.Pro689=) c.4806C= (p.Pro1602=) c.4566C= (p.Pro1522=) c.4377C= (p.Pro1459=) c.3306C= (p.Pro1102=) c.*84C= (n.*84C=) n.4844C= c.4563C= (p.Pro1521=) c.4164C= (p.Pro1388=) c.3741C= (p.Pro1247=) c.2697C= (p.Pro899=) c.4026C= (p.Pro1342=) n.4874C= | |
18 | g.70059987G>T | CA504323489 | RTTN | c.4803C>A (p.Pro1601=) c.890C>A (p.Pro297His) n.2349C>A c.2202C>A (p.Pro734=) c.2155C>A (n.2155C>A) c.*3117C>A (n.*3117C>A) c.4084C>A (n.4084C>A) c.2067C>A (p.Pro689=) c.4806C>A (p.Pro1602=) c.4566C>A (p.Pro1522=) c.4377C>A (p.Pro1459=) c.3306C>A (p.Pro1102=) c.*84C>A (n.*84C>A) n.4844C>A c.4563C>A (p.Pro1521=) c.4164C>A (p.Pro1388=) c.3741C>A (p.Pro1247=) c.2697C>A (p.Pro899=) c.4026C>A (p.Pro1342=) n.4874C>A | COSMIC |
18 | g.70059988G>A | CA402694933 | RTTN | c.4802C>T (p.Pro1601Leu) c.889C>T (p.Pro297Ser) n.2348C>T c.2201C>T (p.Pro734Leu) c.2154C>T (n.2154C>T) c.*3116C>T (n.*3116C>T) c.4083C>T (n.4083C>T) c.2066C>T (p.Pro689Leu) c.4805C>T (p.Pro1602Leu) c.4565C>T (p.Pro1522Leu) c.4376C>T (p.Pro1459Leu) c.3305C>T (p.Pro1102Leu) c.*83C>T (n.*83C>T) n.4843C>T c.4562C>T (p.Pro1521Leu) c.4163C>T (p.Pro1388Leu) c.3740C>T (p.Pro1247Leu) c.2696C>T (p.Pro899Leu) c.4025C>T (p.Pro1342Leu) n.4873C>T | gnomAD v4 |
18 | g.70059988G>C | CA402694934 | RTTN | c.4802C>G (p.Pro1601Arg) c.889C>G (p.Pro297Ala) n.2348C>G c.2201C>G (p.Pro734Arg) c.2154C>G (n.2154C>G) c.*3116C>G (n.*3116C>G) c.4083C>G (n.4083C>G) c.2066C>G (p.Pro689Arg) c.4805C>G (p.Pro1602Arg) c.4565C>G (p.Pro1522Arg) c.4376C>G (p.Pro1459Arg) c.3305C>G (p.Pro1102Arg) c.*83C>G (n.*83C>G) n.4843C>G c.4562C>G (p.Pro1521Arg) c.4163C>G (p.Pro1388Arg) c.3740C>G (p.Pro1247Arg) c.2696C>G (p.Pro899Arg) c.4025C>G (p.Pro1342Arg) n.4873C>G | |
18 | g.70059988G= | CA2311957319 | RTTN | c.4802C= (p.Pro1601=) c.889C= (p.Pro297=) n.2348C= c.2201C= (p.Pro734=) c.2154C= (n.2154C=) c.*3116C= (n.*3116C=) c.4083C= (n.4083C=) c.2066C= (p.Pro689=) c.4805C= (p.Pro1602=) c.4565C= (p.Pro1522=) c.4376C= (p.Pro1459=) c.3305C= (p.Pro1102=) c.*83C= (n.*83C=) n.4843C= c.4562C= (p.Pro1521=) c.4163C= (p.Pro1388=) c.3740C= (p.Pro1247=) c.2696C= (p.Pro899=) c.4025C= (p.Pro1342=) n.4873C= | |
18 | g.70059988G>T | CA402694937 | RTTN | c.4802C>A (p.Pro1601His) c.889C>A (p.Pro297Thr) n.2348C>A c.2201C>A (p.Pro734His) c.2154C>A (n.2154C>A) c.*3116C>A (n.*3116C>A) c.4083C>A (n.4083C>A) c.2066C>A (p.Pro689His) c.4805C>A (p.Pro1602His) c.4565C>A (p.Pro1522His) c.4376C>A (p.Pro1459His) c.3305C>A (p.Pro1102His) c.*83C>A (n.*83C>A) n.4843C>A c.4562C>A (p.Pro1521His) c.4163C>A (p.Pro1388His) c.3740C>A (p.Pro1247His) c.2696C>A (p.Pro899His) c.4025C>A (p.Pro1342His) n.4873C>A | dbSNP gnomAD v3 gnomAD v4 |
18 | g.70059989G>A | CA301946544 | RTTN | c.4801C>T (p.Pro1601Ser) c.888C>T (p.Leu296=) n.2347C>T c.2200C>T (p.Pro734Ser) c.2153C>T (n.2153C>T) c.*3115C>T (n.*3115C>T) c.4082C>T (n.4082C>T) c.2065C>T (p.Pro689Ser) c.4804C>T (p.Pro1602Ser) c.4564C>T (p.Pro1522Ser) c.4375C>T (p.Pro1459Ser) c.3304C>T (p.Pro1102Ser) c.*82C>T (n.*82C>T) n.4842C>T c.4561C>T (p.Pro1521Ser) c.4162C>T (p.Pro1388Ser) c.3739C>T (p.Pro1247Ser) c.2695C>T (p.Pro899Ser) c.4024C>T (p.Pro1342Ser) n.4872C>T | dbSNP |
18 | g.70059989G>C | CA402694942 | RTTN | c.4801C>G (p.Pro1601Ala) c.888C>G (p.Leu296=) n.2347C>G c.2200C>G (p.Pro734Ala) c.2153C>G (n.2153C>G) c.*3115C>G (n.*3115C>G) c.4082C>G (n.4082C>G) c.2065C>G (p.Pro689Ala) c.4804C>G (p.Pro1602Ala) c.4564C>G (p.Pro1522Ala) c.4375C>G (p.Pro1459Ala) c.3304C>G (p.Pro1102Ala) c.*82C>G (n.*82C>G) n.4842C>G c.4561C>G (p.Pro1521Ala) c.4162C>G (p.Pro1388Ala) c.3739C>G (p.Pro1247Ala) c.2695C>G (p.Pro899Ala) c.4024C>G (p.Pro1342Ala) n.4872C>G | |
18 | g.70059989G= | CA2311957320 | RTTN | c.4801C= (p.Pro1601=) c.888C= (p.Leu296=) n.2347C= c.2200C= (p.Pro734=) c.2153C= (n.2153C=) c.*3115C= (n.*3115C=) c.4082C= (n.4082C=) c.2065C= (p.Pro689=) c.4804C= (p.Pro1602=) c.4564C= (p.Pro1522=) c.4375C= (p.Pro1459=) c.3304C= (p.Pro1102=) c.*82C= (n.*82C=) n.4842C= c.4561C= (p.Pro1521=) c.4162C= (p.Pro1388=) c.3739C= (p.Pro1247=) c.2695C= (p.Pro899=) c.4024C= (p.Pro1342=) n.4872C= | |
18 | g.70059989G>T | CA402694944 | RTTN | c.4801C>A (p.Pro1601Thr) c.888C>A (p.Leu296=) n.2347C>A c.2200C>A (p.Pro734Thr) c.2153C>A (n.2153C>A) c.*3115C>A (n.*3115C>A) c.4082C>A (n.4082C>A) c.2065C>A (p.Pro689Thr) c.4804C>A (p.Pro1602Thr) c.4564C>A (p.Pro1522Thr) c.4375C>A (p.Pro1459Thr) c.3304C>A (p.Pro1102Thr) c.*82C>A (n.*82C>A) n.4842C>A c.4561C>A (p.Pro1521Thr) c.4162C>A (p.Pro1388Thr) c.3739C>A (p.Pro1247Thr) c.2695C>A (p.Pro899Thr) c.4024C>A (p.Pro1342Thr) n.4872C>A | |
18 | g.70059990A>C | CA504323490 | RTTN | c.4800T>G (p.Ala1600=) c.887T>G (p.Leu296Arg) n.2346T>G c.2199T>G (p.Ala733=) c.2152T>G (n.2152T>G) c.*3114T>G (n.*3114T>G) c.4081T>G (n.4081T>G) c.2064T>G (p.Ala688=) c.4803T>G (p.Ala1601=) c.4563T>G (p.Ala1521=) c.4374T>G (p.Ala1458=) c.3303T>G (p.Ala1101=) c.*81T>G (n.*81T>G) n.4841T>G c.4560T>G (p.Ala1520=) c.4161T>G (p.Ala1387=) c.3738T>G (p.Ala1246=) c.2694T>G (p.Ala898=) c.4023T>G (p.Ala1341=) n.4871T>G | |
18 | g.70059990A>G | CA504323491 | RTTN | c.4800T>C (p.Ala1600=) c.887T>C (p.Leu296Pro) n.2346T>C c.2199T>C (p.Ala733=) c.2152T>C (n.2152T>C) c.*3114T>C (n.*3114T>C) c.4081T>C (n.4081T>C) c.2064T>C (p.Ala688=) c.4803T>C (p.Ala1601=) c.4563T>C (p.Ala1521=) c.4374T>C (p.Ala1458=) c.3303T>C (p.Ala1101=) c.*81T>C (n.*81T>C) n.4841T>C c.4560T>C (p.Ala1520=) c.4161T>C (p.Ala1387=) c.3738T>C (p.Ala1246=) c.2694T>C (p.Ala898=) c.4023T>C (p.Ala1341=) n.4871T>C | gnomAD v4 |
18 | g.70059990A>T | CA504323492 | RTTN | c.4800T>A (p.Ala1600=) c.887T>A (p.Leu296His) n.2346T>A c.2199T>A (p.Ala733=) c.2152T>A (n.2152T>A) c.*3114T>A (n.*3114T>A) c.4081T>A (n.4081T>A) c.2064T>A (p.Ala688=) c.4803T>A (p.Ala1601=) c.4563T>A (p.Ala1521=) c.4374T>A (p.Ala1458=) c.3303T>A (p.Ala1101=) c.*81T>A (n.*81T>A) n.4841T>A c.4560T>A (p.Ala1520=) c.4161T>A (p.Ala1387=) c.3738T>A (p.Ala1246=) c.2694T>A (p.Ala898=) c.4023T>A (p.Ala1341=) n.4871T>A | |
18 | g.70059991G>A | CA402694949 | RTTN | c.4799C>T (p.Ala1600Val) c.886C>T (p.Leu296Phe) n.2345C>T c.2198C>T (p.Ala733Val) c.2151C>T (n.2151C>T) c.*3113C>T (n.*3113C>T) c.4080C>T (n.4080C>T) c.2063C>T (p.Ala688Val) c.4802C>T (p.Ala1601Val) c.4562C>T (p.Ala1521Val) c.4373C>T (p.Ala1458Val) c.3302C>T (p.Ala1101Val) c.*80C>T (n.*80C>T) n.4840C>T c.4559C>T (p.Ala1520Val) c.4160C>T (p.Ala1387Val) c.3737C>T (p.Ala1246Val) c.2693C>T (p.Ala898Val) c.4022C>T (p.Ala1341Val) n.4870C>T | dbSNP gnomAD v2 gnomAD v4 |
18 | g.70059991G>C | CA402694952 | RTTN | c.4799C>G (p.Ala1600Gly) c.886C>G (p.Leu296Val) n.2345C>G c.2198C>G (p.Ala733Gly) c.2151C>G (n.2151C>G) c.*3113C>G (n.*3113C>G) c.4080C>G (n.4080C>G) c.2063C>G (p.Ala688Gly) c.4802C>G (p.Ala1601Gly) c.4562C>G (p.Ala1521Gly) c.4373C>G (p.Ala1458Gly) c.3302C>G (p.Ala1101Gly) c.*80C>G (n.*80C>G) n.4840C>G c.4559C>G (p.Ala1520Gly) c.4160C>G (p.Ala1387Gly) c.3737C>G (p.Ala1246Gly) c.2693C>G (p.Ala898Gly) c.4022C>G (p.Ala1341Gly) n.4870C>G | |
18 | g.70059991G= | CA2311957321 | RTTN | c.4799C= (p.Ala1600=) c.886C= (p.Leu296=) n.2345C= c.2198C= (p.Ala733=) c.2151C= (n.2151C=) c.*3113C= (n.*3113C=) c.4080C= (n.4080C=) c.2063C= (p.Ala688=) c.4802C= (p.Ala1601=) c.4562C= (p.Ala1521=) c.4373C= (p.Ala1458=) c.3302C= (p.Ala1101=) c.*80C= (n.*80C=) n.4840C= c.4559C= (p.Ala1520=) c.4160C= (p.Ala1387=) c.3737C= (p.Ala1246=) c.2693C= (p.Ala898=) c.4022C= (p.Ala1341=) n.4870C= | |
18 | g.70059991G>T | CA402694947 | RTTN | c.4799C>A (p.Ala1600Asp) c.886C>A (p.Leu296Ile) n.2345C>A c.2198C>A (p.Ala733Asp) c.2151C>A (n.2151C>A) c.*3113C>A (n.*3113C>A) c.4080C>A (n.4080C>A) c.2063C>A (p.Ala688Asp) c.4802C>A (p.Ala1601Asp) c.4562C>A (p.Ala1521Asp) c.4373C>A (p.Ala1458Asp) c.3302C>A (p.Ala1101Asp) c.*80C>A (n.*80C>A) n.4840C>A c.4559C>A (p.Ala1520Asp) c.4160C>A (p.Ala1387Asp) c.3737C>A (p.Ala1246Asp) c.2693C>A (p.Ala898Asp) c.4022C>A (p.Ala1341Asp) n.4870C>A | |
18 | g.70059992C>A | CA402694955 | RTTN | c.4798G>T (p.Ala1600Ser) c.885G>T (p.Leu295=) n.2344G>T c.2197G>T (p.Ala733Ser) c.2150G>T (n.2150G>T) c.*3112G>T (n.*3112G>T) c.4079G>T (n.4079G>T) c.2062G>T (p.Ala688Ser) c.4801G>T (p.Ala1601Ser) c.4561G>T (p.Ala1521Ser) c.4372G>T (p.Ala1458Ser) c.3301G>T (p.Ala1101Ser) c.*79G>T (n.*79G>T) n.4839G>T c.4558G>T (p.Ala1520Ser) c.4159G>T (p.Ala1387Ser) c.3736G>T (p.Ala1246Ser) c.2692G>T (p.Ala898Ser) c.4021G>T (p.Ala1341Ser) n.4869G>T | |
18 | g.70059992C>G | CA402694959 | RTTN | c.4798G>C (p.Ala1600Pro) c.885G>C (p.Leu295=) n.2344G>C c.2197G>C (p.Ala733Pro) c.2150G>C (n.2150G>C) c.*3112G>C (n.*3112G>C) c.4079G>C (n.4079G>C) c.2062G>C (p.Ala688Pro) c.4801G>C (p.Ala1601Pro) c.4561G>C (p.Ala1521Pro) c.4372G>C (p.Ala1458Pro) c.3301G>C (p.Ala1101Pro) c.*79G>C (n.*79G>C) n.4839G>C c.4558G>C (p.Ala1520Pro) c.4159G>C (p.Ala1387Pro) c.3736G>C (p.Ala1246Pro) c.2692G>C (p.Ala898Pro) c.4021G>C (p.Ala1341Pro) n.4869G>C | |
18 | g.70059992C>T | CA402694960 | RTTN | c.4798G>A (p.Ala1600Thr) c.885G>A (p.Leu295=) n.2344G>A c.2197G>A (p.Ala733Thr) c.2150G>A (n.2150G>A) c.*3112G>A (n.*3112G>A) c.4079G>A (n.4079G>A) c.2062G>A (p.Ala688Thr) c.4801G>A (p.Ala1601Thr) c.4561G>A (p.Ala1521Thr) c.4372G>A (p.Ala1458Thr) c.3301G>A (p.Ala1101Thr) c.*79G>A (n.*79G>A) n.4839G>A c.4558G>A (p.Ala1520Thr) c.4159G>A (p.Ala1387Thr) c.3736G>A (p.Ala1246Thr) c.2692G>A (p.Ala898Thr) c.4021G>A (p.Ala1341Thr) n.4869G>A | |
18 | g.70059993A>C | CA504323500 | RTTN | c.4797T>G (p.Ser1599=) c.884T>G (p.Leu295Arg) n.2343T>G c.2196T>G (p.Ser732=) c.2149T>G (n.2149T>G) c.*3111T>G (n.*3111T>G) c.4078T>G (n.4078T>G) c.2061T>G (p.Ser687=) c.4800T>G (p.Ser1600=) c.4560T>G (p.Ser1520=) c.4371T>G (p.Ser1457=) c.3300T>G (p.Ser1100=) c.*78T>G (n.*78T>G) n.4838T>G c.4557T>G (p.Ser1519=) c.4158T>G (p.Ser1386=) c.3735T>G (p.Ser1245=) c.2691T>G (p.Ser897=) c.4020T>G (p.Ser1340=) n.4868T>G | |
18 | g.70059993A>G | CA504323501 | RTTN | c.4797T>C (p.Ser1599=) c.884T>C (p.Leu295Pro) n.2343T>C c.2196T>C (p.Ser732=) c.2149T>C (n.2149T>C) c.*3111T>C (n.*3111T>C) c.4078T>C (n.4078T>C) c.2061T>C (p.Ser687=) c.4800T>C (p.Ser1600=) c.4560T>C (p.Ser1520=) c.4371T>C (p.Ser1457=) c.3300T>C (p.Ser1100=) c.*78T>C (n.*78T>C) n.4838T>C c.4557T>C (p.Ser1519=) c.4158T>C (p.Ser1386=) c.3735T>C (p.Ser1245=) c.2691T>C (p.Ser897=) c.4020T>C (p.Ser1340=) n.4868T>C | |
18 | g.70059993A>T | CA504323502 | RTTN | c.4797T>A (p.Ser1599=) c.884T>A (p.Leu295Gln) n.2343T>A c.2196T>A (p.Ser732=) c.2149T>A (n.2149T>A) c.*3111T>A (n.*3111T>A) c.4078T>A (n.4078T>A) c.2061T>A (p.Ser687=) c.4800T>A (p.Ser1600=) c.4560T>A (p.Ser1520=) c.4371T>A (p.Ser1457=) c.3300T>A (p.Ser1100=) c.*78T>A (n.*78T>A) n.4838T>A c.4557T>A (p.Ser1519=) c.4158T>A (p.Ser1386=) c.3735T>A (p.Ser1245=) c.2691T>A (p.Ser897=) c.4020T>A (p.Ser1340=) n.4868T>A | |
18 | g.70059994G>A | CA402694962 | RTTN | c.4796C>T (p.Ser1599Phe) c.883C>T (p.Leu295=) n.2342C>T c.2195C>T (p.Ser732Phe) c.2148C>T (n.2148C>T) c.*3110C>T (n.*3110C>T) c.4077C>T (n.4077C>T) c.2060C>T (p.Ser687Phe) c.4799C>T (p.Ser1600Phe) c.4559C>T (p.Ser1520Phe) c.4370C>T (p.Ser1457Phe) c.3299C>T (p.Ser1100Phe) c.*77C>T (n.*77C>T) n.4837C>T c.4556C>T (p.Ser1519Phe) c.4157C>T (p.Ser1386Phe) c.3734C>T (p.Ser1245Phe) c.2690C>T (p.Ser897Phe) c.4019C>T (p.Ser1340Phe) n.4867C>T | gnomAD v4 |
18 | g.70059994G>C | CA402694967 | RTTN | c.4796C>G (p.Ser1599Cys) c.883C>G (p.Leu295Val) n.2342C>G c.2195C>G (p.Ser732Cys) c.2148C>G (n.2148C>G) c.*3110C>G (n.*3110C>G) c.4077C>G (n.4077C>G) c.2060C>G (p.Ser687Cys) c.4799C>G (p.Ser1600Cys) c.4559C>G (p.Ser1520Cys) c.4370C>G (p.Ser1457Cys) c.3299C>G (p.Ser1100Cys) c.*77C>G (n.*77C>G) n.4837C>G c.4556C>G (p.Ser1519Cys) c.4157C>G (p.Ser1386Cys) c.3734C>G (p.Ser1245Cys) c.2690C>G (p.Ser897Cys) c.4019C>G (p.Ser1340Cys) n.4867C>G | |
18 | g.70059994G>T | CA402694970 | RTTN | c.4796C>A (p.Ser1599Tyr) c.883C>A (p.Leu295Met) n.2342C>A c.2195C>A (p.Ser732Tyr) c.2148C>A (n.2148C>A) c.*3110C>A (n.*3110C>A) c.4077C>A (n.4077C>A) c.2060C>A (p.Ser687Tyr) c.4799C>A (p.Ser1600Tyr) c.4559C>A (p.Ser1520Tyr) c.4370C>A (p.Ser1457Tyr) c.3299C>A (p.Ser1100Tyr) c.*77C>A (n.*77C>A) n.4837C>A c.4556C>A (p.Ser1519Tyr) c.4157C>A (p.Ser1386Tyr) c.3734C>A (p.Ser1245Tyr) c.2690C>A (p.Ser897Tyr) c.4019C>A (p.Ser1340Tyr) n.4867C>A | |
18 | g.70059995A>C | CA402694973 | RTTN | c.4795T>G (p.Ser1599Ala) c.882T>G (p.Phe294Leu) n.2341T>G c.2194T>G (p.Ser732Ala) c.2147T>G (n.2147T>G) c.*3109T>G (n.*3109T>G) c.4076T>G (n.4076T>G) c.2059T>G (p.Ser687Ala) c.4798T>G (p.Ser1600Ala) c.4558T>G (p.Ser1520Ala) c.4369T>G (p.Ser1457Ala) c.3298T>G (p.Ser1100Ala) c.*76T>G (n.*76T>G) n.4836T>G c.4555T>G (p.Ser1519Ala) c.4156T>G (p.Ser1386Ala) c.3733T>G (p.Ser1245Ala) c.2689T>G (p.Ser897Ala) c.4018T>G (p.Ser1340Ala) n.4866T>G | |
18 | g.70059995A>G | CA402694976 | RTTN | c.4795T>C (p.Ser1599Pro) c.882T>C (p.Phe294=) n.2341T>C c.2194T>C (p.Ser732Pro) c.2147T>C (n.2147T>C) c.*3109T>C (n.*3109T>C) c.4076T>C (n.4076T>C) c.2059T>C (p.Ser687Pro) c.4798T>C (p.Ser1600Pro) c.4558T>C (p.Ser1520Pro) c.4369T>C (p.Ser1457Pro) c.3298T>C (p.Ser1100Pro) c.*76T>C (n.*76T>C) n.4836T>C c.4555T>C (p.Ser1519Pro) c.4156T>C (p.Ser1386Pro) c.3733T>C (p.Ser1245Pro) c.2689T>C (p.Ser897Pro) c.4018T>C (p.Ser1340Pro) n.4866T>C | |
18 | g.70059995A>T | CA402694978 | RTTN | c.4795T>A (p.Ser1599Thr) c.882T>A (p.Phe294Leu) n.2341T>A c.2194T>A (p.Ser732Thr) c.2147T>A (n.2147T>A) c.*3109T>A (n.*3109T>A) c.4076T>A (n.4076T>A) c.2059T>A (p.Ser687Thr) c.4798T>A (p.Ser1600Thr) c.4558T>A (p.Ser1520Thr) c.4369T>A (p.Ser1457Thr) c.3298T>A (p.Ser1100Thr) c.*76T>A (n.*76T>A) n.4836T>A c.4555T>A (p.Ser1519Thr) c.4156T>A (p.Ser1386Thr) c.3733T>A (p.Ser1245Thr) c.2689T>A (p.Ser897Thr) c.4018T>A (p.Ser1340Thr) n.4866T>A | |
18 | g.70059996A>C | CA504323503 | RTTN | c.4794T>G (p.Leu1598=) c.881T>G (p.Phe294Cys) n.2340T>G c.2193T>G (p.Leu731=) c.2146T>G (n.2146T>G) c.*3108T>G (n.*3108T>G) c.4075T>G (n.4075T>G) c.2058T>G (p.Leu686=) c.4797T>G (p.Leu1599=) c.4557T>G (p.Leu1519=) c.4368T>G (p.Leu1456=) c.3297T>G (p.Leu1099=) c.*75T>G (n.*75T>G) n.4835T>G c.4554T>G (p.Leu1518=) c.4155T>G (p.Leu1385=) c.3732T>G (p.Leu1244=) c.2688T>G (p.Leu896=) c.4017T>G (p.Leu1339=) n.4865T>G | |
18 | g.70059996A>G | CA504323504 | RTTN | c.4794T>C (p.Leu1598=) c.881T>C (p.Phe294Ser) n.2340T>C c.2193T>C (p.Leu731=) c.2146T>C (n.2146T>C) c.*3108T>C (n.*3108T>C) c.4075T>C (n.4075T>C) c.2058T>C (p.Leu686=) c.4797T>C (p.Leu1599=) c.4557T>C (p.Leu1519=) c.4368T>C (p.Leu1456=) c.3297T>C (p.Leu1099=) c.*75T>C (n.*75T>C) n.4835T>C c.4554T>C (p.Leu1518=) c.4155T>C (p.Leu1385=) c.3732T>C (p.Leu1244=) c.2688T>C (p.Leu896=) c.4017T>C (p.Leu1339=) n.4865T>C | |
18 | g.70059996A>T | CA504323506 | RTTN | c.4794T>A (p.Leu1598=) c.881T>A (p.Phe294Tyr) n.2340T>A c.2193T>A (p.Leu731=) c.2146T>A (n.2146T>A) c.*3108T>A (n.*3108T>A) c.4075T>A (n.4075T>A) c.2058T>A (p.Leu686=) c.4797T>A (p.Leu1599=) c.4557T>A (p.Leu1519=) c.4368T>A (p.Leu1456=) c.3297T>A (p.Leu1099=) c.*75T>A (n.*75T>A) n.4835T>A c.4554T>A (p.Leu1518=) c.4155T>A (p.Leu1385=) c.3732T>A (p.Leu1244=) c.2688T>A (p.Leu896=) c.4017T>A (p.Leu1339=) n.4865T>A | |
18 | g.70059997A>C | CA402694982 | RTTN | c.4793T>G (p.Leu1598Arg) c.880T>G (p.Phe294Val) n.2339T>G c.2192T>G (p.Leu731Arg) c.2145T>G (n.2145T>G) c.*3107T>G (n.*3107T>G) c.4074T>G (n.4074T>G) c.2057T>G (p.Leu686Arg) c.4796T>G (p.Leu1599Arg) c.4556T>G (p.Leu1519Arg) c.4367T>G (p.Leu1456Arg) c.3296T>G (p.Leu1099Arg) c.*74T>G (n.*74T>G) n.4834T>G c.4553T>G (p.Leu1518Arg) c.4154T>G (p.Leu1385Arg) c.3731T>G (p.Leu1244Arg) c.2687T>G (p.Leu896Arg) c.4016T>G (p.Leu1339Arg) n.4864T>G | |
18 | g.70059997A>G | CA402694984 | RTTN | c.4793T>C (p.Leu1598Pro) c.880T>C (p.Phe294Leu) n.2339T>C c.2192T>C (p.Leu731Pro) c.2145T>C (n.2145T>C) c.*3107T>C (n.*3107T>C) c.4074T>C (n.4074T>C) c.2057T>C (p.Leu686Pro) c.4796T>C (p.Leu1599Pro) c.4556T>C (p.Leu1519Pro) c.4367T>C (p.Leu1456Pro) c.3296T>C (p.Leu1099Pro) c.*74T>C (n.*74T>C) n.4834T>C c.4553T>C (p.Leu1518Pro) c.4154T>C (p.Leu1385Pro) c.3731T>C (p.Leu1244Pro) c.2687T>C (p.Leu896Pro) c.4016T>C (p.Leu1339Pro) n.4864T>C | |
18 | g.70059997A>T | CA402694986 | RTTN | c.4793T>A (p.Leu1598His) c.880T>A (p.Phe294Ile) n.2339T>A c.2192T>A (p.Leu731His) c.2145T>A (n.2145T>A) c.*3107T>A (n.*3107T>A) c.4074T>A (n.4074T>A) c.2057T>A (p.Leu686His) c.4796T>A (p.Leu1599His) c.4556T>A (p.Leu1519His) c.4367T>A (p.Leu1456His) c.3296T>A (p.Leu1099His) c.*74T>A (n.*74T>A) n.4834T>A c.4553T>A (p.Leu1518His) c.4154T>A (p.Leu1385His) c.3731T>A (p.Leu1244His) c.2687T>A (p.Leu896His) c.4016T>A (p.Leu1339His) n.4864T>A | |
18 | g.70059998G>A | CA402694990 | RTTN | c.4792C>T (p.Leu1598Phe) c.879C>T (p.Leu293=) n.2338C>T c.2191C>T (p.Leu731Phe) c.2144C>T (n.2144C>T) c.*3106C>T (n.*3106C>T) c.4073C>T (n.4073C>T) c.2056C>T (p.Leu686Phe) c.4795C>T (p.Leu1599Phe) c.4555C>T (p.Leu1519Phe) c.4366C>T (p.Leu1456Phe) c.3295C>T (p.Leu1099Phe) c.*73C>T (n.*73C>T) n.4833C>T c.4552C>T (p.Leu1518Phe) c.4153C>T (p.Leu1385Phe) c.3730C>T (p.Leu1244Phe) c.2686C>T (p.Leu896Phe) c.4015C>T (p.Leu1339Phe) n.4863C>T | |
18 | g.70059998G>C | CA402694991 | RTTN | c.4792C>G (p.Leu1598Val) c.879C>G (p.Leu293=) n.2338C>G c.2191C>G (p.Leu731Val) c.2144C>G (n.2144C>G) c.*3106C>G (n.*3106C>G) c.4073C>G (n.4073C>G) c.2056C>G (p.Leu686Val) c.4795C>G (p.Leu1599Val) c.4555C>G (p.Leu1519Val) c.4366C>G (p.Leu1456Val) c.3295C>G (p.Leu1099Val) c.*73C>G (n.*73C>G) n.4833C>G c.4552C>G (p.Leu1518Val) c.4153C>G (p.Leu1385Val) c.3730C>G (p.Leu1244Val) c.2686C>G (p.Leu896Val) c.4015C>G (p.Leu1339Val) n.4863C>G | gnomAD v4 |
18 | g.70059998G>T | CA402694988 | RTTN | c.4792C>A (p.Leu1598Ile) c.879C>A (p.Leu293=) n.2338C>A c.2191C>A (p.Leu731Ile) c.2144C>A (n.2144C>A) c.*3106C>A (n.*3106C>A) c.4073C>A (n.4073C>A) c.2056C>A (p.Leu686Ile) c.4795C>A (p.Leu1599Ile) c.4555C>A (p.Leu1519Ile) c.4366C>A (p.Leu1456Ile) c.3295C>A (p.Leu1099Ile) c.*73C>A (n.*73C>A) n.4833C>A c.4552C>A (p.Leu1518Ile) c.4153C>A (p.Leu1385Ile) c.3730C>A (p.Leu1244Ile) c.2686C>A (p.Leu896Ile) c.4015C>A (p.Leu1339Ile) n.4863C>A | |
18 | g.70059999A>C | CA504323509 | RTTN | c.4791T>G (p.Ser1597=) c.878T>G (p.Leu293Arg) n.2337T>G c.2190T>G (p.Ser730=) c.2143T>G (n.2143T>G) c.*3105T>G (n.*3105T>G) c.4072T>G (n.4072T>G) c.2055T>G (p.Ser685=) c.4794T>G (p.Ser1598=) c.4554T>G (p.Ser1518=) c.4365T>G (p.Ser1455=) c.3294T>G (p.Ser1098=) c.*72T>G (n.*72T>G) n.4832T>G c.4551T>G (p.Ser1517=) c.4152T>G (p.Ser1384=) c.3729T>G (p.Ser1243=) c.2685T>G (p.Ser895=) c.4014T>G (p.Ser1338=) n.4862T>G | |
18 | g.70059999A>G | CA504323510 | RTTN | c.4791T>C (p.Ser1597=) c.878T>C (p.Leu293Pro) n.2337T>C c.2190T>C (p.Ser730=) c.2143T>C (n.2143T>C) c.*3105T>C (n.*3105T>C) c.4072T>C (n.4072T>C) c.2055T>C (p.Ser685=) c.4794T>C (p.Ser1598=) c.4554T>C (p.Ser1518=) c.4365T>C (p.Ser1455=) c.3294T>C (p.Ser1098=) c.*72T>C (n.*72T>C) n.4832T>C c.4551T>C (p.Ser1517=) c.4152T>C (p.Ser1384=) c.3729T>C (p.Ser1243=) c.2685T>C (p.Ser895=) c.4014T>C (p.Ser1338=) n.4862T>C | gnomAD v4 |
18 | g.70059999A>T | CA504323511 | RTTN | c.4791T>A (p.Ser1597=) c.878T>A (p.Leu293His) n.2337T>A c.2190T>A (p.Ser730=) c.2143T>A (n.2143T>A) c.*3105T>A (n.*3105T>A) c.4072T>A (n.4072T>A) c.2055T>A (p.Ser685=) c.4794T>A (p.Ser1598=) c.4554T>A (p.Ser1518=) c.4365T>A (p.Ser1455=) c.3294T>A (p.Ser1098=) c.*72T>A (n.*72T>A) n.4832T>A c.4551T>A (p.Ser1517=) c.4152T>A (p.Ser1384=) c.3729T>A (p.Ser1243=) c.2685T>A (p.Ser895=) c.4014T>A (p.Ser1338=) n.4862T>A | |
18 | g.70060000G>A | CA402694992 | RTTN | c.4790C>T (p.Ser1597Phe) c.877C>T (p.Leu293Phe) n.2336C>T c.2189C>T (p.Ser730Phe) c.2142C>T (n.2142C>T) c.*3104C>T (n.*3104C>T) c.4071C>T (n.4071C>T) c.2054C>T (p.Ser685Phe) c.4793C>T (p.Ser1598Phe) c.4553C>T (p.Ser1518Phe) c.4364C>T (p.Ser1455Phe) c.3293C>T (p.Ser1098Phe) c.*71C>T (n.*71C>T) n.4831C>T c.4550C>T (p.Ser1517Phe) c.4151C>T (p.Ser1384Phe) c.3728C>T (p.Ser1243Phe) c.2684C>T (p.Ser895Phe) c.4013C>T (p.Ser1338Phe) n.4861C>T | |
18 | g.70060000G>C | CA402694994 | RTTN | c.4790C>G (p.Ser1597Cys) c.877C>G (p.Leu293Val) n.2336C>G c.2189C>G (p.Ser730Cys) c.2142C>G (n.2142C>G) c.*3104C>G (n.*3104C>G) c.4071C>G (n.4071C>G) c.2054C>G (p.Ser685Cys) c.4793C>G (p.Ser1598Cys) c.4553C>G (p.Ser1518Cys) c.4364C>G (p.Ser1455Cys) c.3293C>G (p.Ser1098Cys) c.*71C>G (n.*71C>G) n.4831C>G c.4550C>G (p.Ser1517Cys) c.4151C>G (p.Ser1384Cys) c.3728C>G (p.Ser1243Cys) c.2684C>G (p.Ser895Cys) c.4013C>G (p.Ser1338Cys) n.4861C>G | |
18 | g.70060000G>T | CA402694996 | RTTN | c.4790C>A (p.Ser1597Tyr) c.877C>A (p.Leu293Ile) n.2336C>A c.2189C>A (p.Ser730Tyr) c.2142C>A (n.2142C>A) c.*3104C>A (n.*3104C>A) c.4071C>A (n.4071C>A) c.2054C>A (p.Ser685Tyr) c.4793C>A (p.Ser1598Tyr) c.4553C>A (p.Ser1518Tyr) c.4364C>A (p.Ser1455Tyr) c.3293C>A (p.Ser1098Tyr) c.*71C>A (n.*71C>A) n.4831C>A c.4550C>A (p.Ser1517Tyr) c.4151C>A (p.Ser1384Tyr) c.3728C>A (p.Ser1243Tyr) c.2684C>A (p.Ser895Tyr) c.4013C>A (p.Ser1338Tyr) n.4861C>A | |
18 | g.70060001A= | CA2311957322 | RTTN | c.4789T= (p.Ser1597=) c.876T= (p.His292=) n.2335T= c.2188T= (p.Ser730=) c.2141T= (n.2141T=) c.*3103T= (n.*3103T=) c.4070T= (n.4070T=) c.2053T= (p.Ser685=) c.4792T= (p.Ser1598=) c.4552T= (p.Ser1518=) c.4363T= (p.Ser1455=) c.3292T= (p.Ser1098=) c.*70T= (n.*70T=) n.4830T= c.4549T= (p.Ser1517=) c.4150T= (p.Ser1384=) c.3727T= (p.Ser1243=) c.2683T= (p.Ser895=) c.4012T= (p.Ser1338=) n.4860T= | |
18 | g.70060001A>C | CA402694997 | RTTN | c.4789T>G (p.Ser1597Ala) c.876T>G (p.His292Gln) n.2335T>G c.2188T>G (p.Ser730Ala) c.2141T>G (n.2141T>G) c.*3103T>G (n.*3103T>G) c.4070T>G (n.4070T>G) c.2053T>G (p.Ser685Ala) c.4792T>G (p.Ser1598Ala) c.4552T>G (p.Ser1518Ala) c.4363T>G (p.Ser1455Ala) c.3292T>G (p.Ser1098Ala) c.*70T>G (n.*70T>G) n.4830T>G c.4549T>G (p.Ser1517Ala) c.4150T>G (p.Ser1384Ala) c.3727T>G (p.Ser1243Ala) c.2683T>G (p.Ser895Ala) c.4012T>G (p.Ser1338Ala) n.4860T>G | |
18 | g.70060001A>G | CA402694999 | RTTN | c.4789T>C (p.Ser1597Pro) c.876T>C (p.His292=) n.2335T>C c.2188T>C (p.Ser730Pro) c.2141T>C (n.2141T>C) c.*3103T>C (n.*3103T>C) c.4070T>C (n.4070T>C) c.2053T>C (p.Ser685Pro) c.4792T>C (p.Ser1598Pro) c.4552T>C (p.Ser1518Pro) c.4363T>C (p.Ser1455Pro) c.3292T>C (p.Ser1098Pro) c.*70T>C (n.*70T>C) n.4830T>C c.4549T>C (p.Ser1517Pro) c.4150T>C (p.Ser1384Pro) c.3727T>C (p.Ser1243Pro) c.2683T>C (p.Ser895Pro) c.4012T>C (p.Ser1338Pro) n.4860T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.70060001A>T | CA402695001 | RTTN | c.4789T>A (p.Ser1597Thr) c.876T>A (p.His292Gln) n.2335T>A c.2188T>A (p.Ser730Thr) c.2141T>A (n.2141T>A) c.*3103T>A (n.*3103T>A) c.4070T>A (n.4070T>A) c.2053T>A (p.Ser685Thr) c.4792T>A (p.Ser1598Thr) c.4552T>A (p.Ser1518Thr) c.4363T>A (p.Ser1455Thr) c.3292T>A (p.Ser1098Thr) c.*70T>A (n.*70T>A) n.4830T>A c.4549T>A (p.Ser1517Thr) c.4150T>A (p.Ser1384Thr) c.3727T>A (p.Ser1243Thr) c.2683T>A (p.Ser895Thr) c.4012T>A (p.Ser1338Thr) n.4860T>A | |
18 | g.70060002T>A | CA504323513 | RTTN | c.4788A>T (p.Ser1596=) c.875A>T (p.His292Leu) n.2334A>T c.2187A>T (p.Ser729=) c.2140A>T (n.2140A>T) c.*3102A>T (n.*3102A>T) c.4069A>T (n.4069A>T) c.2052A>T (p.Ser684=) c.4791A>T (p.Ser1597=) c.4551A>T (p.Ser1517=) c.4362A>T (p.Ser1454=) c.3291A>T (p.Ser1097=) c.*69A>T (n.*69A>T) n.4829A>T c.4548A>T (p.Ser1516=) c.4149A>T (p.Ser1383=) c.3726A>T (p.Ser1242=) c.2682A>T (p.Ser894=) c.4011A>T (p.Ser1337=) n.4859A>T | |
18 | g.70060002T>C | CA504323514 | RTTN | c.4788A>G (p.Ser1596=) c.875A>G (p.His292Arg) n.2334A>G c.2187A>G (p.Ser729=) c.2140A>G (n.2140A>G) c.*3102A>G (n.*3102A>G) c.4069A>G (n.4069A>G) c.2052A>G (p.Ser684=) c.4791A>G (p.Ser1597=) c.4551A>G (p.Ser1517=) c.4362A>G (p.Ser1454=) c.3291A>G (p.Ser1097=) c.*69A>G (n.*69A>G) n.4829A>G c.4548A>G (p.Ser1516=) c.4149A>G (p.Ser1383=) c.3726A>G (p.Ser1242=) c.2682A>G (p.Ser894=) c.4011A>G (p.Ser1337=) n.4859A>G | |
18 | g.70060002T>G | CA504323515 | RTTN | c.4788A>C (p.Ser1596=) c.875A>C (p.His292Pro) n.2334A>C c.2187A>C (p.Ser729=) c.2140A>C (n.2140A>C) c.*3102A>C (n.*3102A>C) c.4069A>C (n.4069A>C) c.2052A>C (p.Ser684=) c.4791A>C (p.Ser1597=) c.4551A>C (p.Ser1517=) c.4362A>C (p.Ser1454=) c.3291A>C (p.Ser1097=) c.*69A>C (n.*69A>C) n.4829A>C c.4548A>C (p.Ser1516=) c.4149A>C (p.Ser1383=) c.3726A>C (p.Ser1242=) c.2682A>C (p.Ser894=) c.4011A>C (p.Ser1337=) n.4859A>C | |
18 | g.70060003G>A | CA402695003 | RTTN | c.4787C>T (p.Ser1596Leu) c.874C>T (p.His292Tyr) n.2333C>T c.2186C>T (p.Ser729Leu) c.2139C>T (n.2139C>T) c.*3101C>T (n.*3101C>T) c.4068C>T (n.4068C>T) c.2051C>T (p.Ser684Leu) c.4790C>T (p.Ser1597Leu) c.4550C>T (p.Ser1517Leu) c.4361C>T (p.Ser1454Leu) c.3290C>T (p.Ser1097Leu) c.*68C>T (n.*68C>T) n.4828C>T c.4547C>T (p.Ser1516Leu) c.4148C>T (p.Ser1383Leu) c.3725C>T (p.Ser1242Leu) c.2681C>T (p.Ser894Leu) c.4010C>T (p.Ser1337Leu) n.4858C>T | |
18 | g.70060003G>C | CA402695008 | RTTN | c.4787C>G (p.Ser1596Ter) c.874C>G (p.His292Asp) n.2333C>G c.2186C>G (p.Ser729Ter) c.2139C>G (n.2139C>G) c.*3101C>G (n.*3101C>G) c.4068C>G (n.4068C>G) c.2051C>G (p.Ser684Ter) c.4790C>G (p.Ser1597Ter) c.4550C>G (p.Ser1517Ter) c.4361C>G (p.Ser1454Ter) c.3290C>G (p.Ser1097Ter) c.*68C>G (n.*68C>G) n.4828C>G c.4547C>G (p.Ser1516Ter) c.4148C>G (p.Ser1383Ter) c.3725C>G (p.Ser1242Ter) c.2681C>G (p.Ser894Ter) c.4010C>G (p.Ser1337Ter) n.4858C>G | |
18 | g.70060003G>T | CA402695005 | RTTN | c.4787C>A (p.Ser1596Ter) c.874C>A (p.His292Asn) n.2333C>A c.2186C>A (p.Ser729Ter) c.2139C>A (n.2139C>A) c.*3101C>A (n.*3101C>A) c.4068C>A (n.4068C>A) c.2051C>A (p.Ser684Ter) c.4790C>A (p.Ser1597Ter) c.4550C>A (p.Ser1517Ter) c.4361C>A (p.Ser1454Ter) c.3290C>A (p.Ser1097Ter) c.*68C>A (n.*68C>A) n.4828C>A c.4547C>A (p.Ser1516Ter) c.4148C>A (p.Ser1383Ter) c.3725C>A (p.Ser1242Ter) c.2681C>A (p.Ser894Ter) c.4010C>A (p.Ser1337Ter) n.4858C>A | |
18 | g.70060004A>C | CA402695011 | RTTN | c.4786T>G (p.Ser1596Ala) c.873T>G (p.Ile291Met) n.2332T>G c.2185T>G (p.Ser729Ala) c.2138T>G (n.2138T>G) c.*3100T>G (n.*3100T>G) c.4067T>G (n.4067T>G) c.2050T>G (p.Ser684Ala) c.4789T>G (p.Ser1597Ala) c.4549T>G (p.Ser1517Ala) c.4360T>G (p.Ser1454Ala) c.3289T>G (p.Ser1097Ala) c.*67T>G (n.*67T>G) n.4827T>G c.4546T>G (p.Ser1516Ala) c.4147T>G (p.Ser1383Ala) c.3724T>G (p.Ser1242Ala) c.2680T>G (p.Ser894Ala) c.4009T>G (p.Ser1337Ala) n.4857T>G | |
18 | g.70060004A>G | CA402695021 | RTTN | c.4786T>C (p.Ser1596Pro) c.873T>C (p.Ile291=) n.2332T>C c.2185T>C (p.Ser729Pro) c.2138T>C (n.2138T>C) c.*3100T>C (n.*3100T>C) c.4067T>C (n.4067T>C) c.2050T>C (p.Ser684Pro) c.4789T>C (p.Ser1597Pro) c.4549T>C (p.Ser1517Pro) c.4360T>C (p.Ser1454Pro) c.3289T>C (p.Ser1097Pro) c.*67T>C (n.*67T>C) n.4827T>C c.4546T>C (p.Ser1516Pro) c.4147T>C (p.Ser1383Pro) c.3724T>C (p.Ser1242Pro) c.2680T>C (p.Ser894Pro) c.4009T>C (p.Ser1337Pro) n.4857T>C | gnomAD v4 |
18 | g.70060004A>T | CA402695024 | RTTN | c.4786T>A (p.Ser1596Thr) c.873T>A (p.Ile291=) n.2332T>A c.2185T>A (p.Ser729Thr) c.2138T>A (n.2138T>A) c.*3100T>A (n.*3100T>A) c.4067T>A (n.4067T>A) c.2050T>A (p.Ser684Thr) c.4789T>A (p.Ser1597Thr) c.4549T>A (p.Ser1517Thr) c.4360T>A (p.Ser1454Thr) c.3289T>A (p.Ser1097Thr) c.*67T>A (n.*67T>A) n.4827T>A c.4546T>A (p.Ser1516Thr) c.4147T>A (p.Ser1383Thr) c.3724T>A (p.Ser1242Thr) c.2680T>A (p.Ser894Thr) c.4009T>A (p.Ser1337Thr) n.4857T>A | |
18 | g.70060005A= | CA2311957323 | RTTN | c.4785T= (p.Asp1595=) c.872T= (p.Ile291=) n.2331T= c.2184T= (p.Asp728=) c.2137T= (n.2137T=) c.*3099T= (n.*3099T=) c.4066T= (n.4066T=) c.2049T= (p.Asp683=) c.4788T= (p.Asp1596=) c.4548T= (p.Asp1516=) c.4359T= (p.Asp1453=) c.3288T= (p.Asp1096=) c.*66T= (n.*66T=) n.4826T= c.4545T= (p.Asp1515=) c.4146T= (p.Asp1382=) c.3723T= (p.Asp1241=) c.2679T= (p.Asp893=) c.4008T= (p.Asp1336=) n.4856T= | |
18 | g.70060005A>C | CA402695026 | RTTN | c.4785T>G (p.Asp1595Glu) c.872T>G (p.Ile291Ser) n.2331T>G c.2184T>G (p.Asp728Glu) c.2137T>G (n.2137T>G) c.*3099T>G (n.*3099T>G) c.4066T>G (n.4066T>G) c.2049T>G (p.Asp683Glu) c.4788T>G (p.Asp1596Glu) c.4548T>G (p.Asp1516Glu) c.4359T>G (p.Asp1453Glu) c.3288T>G (p.Asp1096Glu) c.*66T>G (n.*66T>G) n.4826T>G c.4545T>G (p.Asp1515Glu) c.4146T>G (p.Asp1382Glu) c.3723T>G (p.Asp1241Glu) c.2679T>G (p.Asp893Glu) c.4008T>G (p.Asp1336Glu) n.4856T>G | |
18 | g.70060005A>G | CA504323518 | RTTN | c.4785T>C (p.Asp1595=) c.872T>C (p.Ile291Thr) n.2331T>C c.2184T>C (p.Asp728=) c.2137T>C (n.2137T>C) c.*3099T>C (n.*3099T>C) c.4066T>C (n.4066T>C) c.2049T>C (p.Asp683=) c.4788T>C (p.Asp1596=) c.4548T>C (p.Asp1516=) c.4359T>C (p.Asp1453=) c.3288T>C (p.Asp1096=) c.*66T>C (n.*66T>C) n.4826T>C c.4545T>C (p.Asp1515=) c.4146T>C (p.Asp1382=) c.3723T>C (p.Asp1241=) c.2679T>C (p.Asp893=) c.4008T>C (p.Asp1336=) n.4856T>C | |
18 | g.70060005A>T | CA402695029 | RTTN | c.4785T>A (p.Asp1595Glu) c.872T>A (p.Ile291Asn) n.2331T>A c.2184T>A (p.Asp728Glu) c.2137T>A (n.2137T>A) c.*3099T>A (n.*3099T>A) c.4066T>A (n.4066T>A) c.2049T>A (p.Asp683Glu) c.4788T>A (p.Asp1596Glu) c.4548T>A (p.Asp1516Glu) c.4359T>A (p.Asp1453Glu) c.3288T>A (p.Asp1096Glu) c.*66T>A (n.*66T>A) n.4826T>A c.4545T>A (p.Asp1515Glu) c.4146T>A (p.Asp1382Glu) c.3723T>A (p.Asp1241Glu) c.2679T>A (p.Asp893Glu) c.4008T>A (p.Asp1336Glu) n.4856T>A | |
18 | g.70060006T>A | CA402695036 | RTTN | c.4784A>T (p.Asp1595Val) c.871A>T (p.Ile291Phe) n.2330A>T c.2183A>T (p.Asp728Val) c.2136A>T (n.2136A>T) c.*3098A>T (n.*3098A>T) c.4065A>T (n.4065A>T) c.2048A>T (p.Asp683Val) c.4787A>T (p.Asp1596Val) c.4547A>T (p.Asp1516Val) c.4358A>T (p.Asp1453Val) c.3287A>T (p.Asp1096Val) c.*65A>T (n.*65A>T) n.4825A>T c.4544A>T (p.Asp1515Val) c.4145A>T (p.Asp1382Val) c.3722A>T (p.Asp1241Val) c.2678A>T (p.Asp893Val) c.4007A>T (p.Asp1336Val) n.4855A>T | gnomAD v4 |
18 | g.70060006T>C | CA402695034 | RTTN | c.4784A>G (p.Asp1595Gly) c.871A>G (p.Ile291Val) n.2330A>G c.2183A>G (p.Asp728Gly) c.2136A>G (n.2136A>G) c.*3098A>G (n.*3098A>G) c.4065A>G (n.4065A>G) c.2048A>G (p.Asp683Gly) c.4787A>G (p.Asp1596Gly) c.4547A>G (p.Asp1516Gly) c.4358A>G (p.Asp1453Gly) c.3287A>G (p.Asp1096Gly) c.*65A>G (n.*65A>G) n.4825A>G c.4544A>G (p.Asp1515Gly) c.4145A>G (p.Asp1382Gly) c.3722A>G (p.Asp1241Gly) c.2678A>G (p.Asp893Gly) c.4007A>G (p.Asp1336Gly) n.4855A>G | |
18 | g.70060006T>G | CA402695032 | RTTN | c.4784A>C (p.Asp1595Ala) c.871A>C (p.Ile291Leu) n.2330A>C c.2183A>C (p.Asp728Ala) c.2136A>C (n.2136A>C) c.*3098A>C (n.*3098A>C) c.4065A>C (n.4065A>C) c.2048A>C (p.Asp683Ala) c.4787A>C (p.Asp1596Ala) c.4547A>C (p.Asp1516Ala) c.4358A>C (p.Asp1453Ala) c.3287A>C (p.Asp1096Ala) c.*65A>C (n.*65A>C) n.4825A>C c.4544A>C (p.Asp1515Ala) c.4145A>C (p.Asp1382Ala) c.3722A>C (p.Asp1241Ala) c.2678A>C (p.Asp893Ala) c.4007A>C (p.Asp1336Ala) n.4855A>C | |
18 | g.70060006_70060007insACT | CA630873160 | RTTN | c.4784_4785insGTA (p.Asp1595delinsGluTyr) c.871_872insGTA (p.Met290_Ile291insSer) n.2330_2331insGTA c.2183_2184insGTA (p.Asp728delinsGluTyr) c.2136_2137insGTA (n.2136_2137insGTA) c.*3098_*3099insGTA (n.*3098_*3099insGTA) c.4065_4066insGTA (n.4065_4066insGTA) c.2048_2049insGTA (p.Asp683delinsGluTyr) c.4787_4788insGTA (p.Asp1596delinsGluTyr) c.4547_4548insGTA (p.Asp1516delinsGluTyr) c.4358_4359insGTA (p.Asp1453delinsGluTyr) c.3287_3288insGTA (p.Asp1096delinsGluTyr) c.*65_*66insGTA (n.*65_*66insGTA) n.4825_4826insGTA c.4544_4545insGTA (p.Asp1515delinsGluTyr) c.4145_4146insGTA (p.Asp1382delinsGluTyr) c.3722_3723insGTA (p.Asp1241delinsGluTyr) c.2678_2679insGTA (p.Asp893delinsGluTyr) c.4007_4008insGTA (p.Asp1336delinsGluTyr) n.4855_4856insGTA | dbSNP gnomAD v2 |
18 | g.70060007C>A | CA402695044 | RTTN | c.4783G>T (p.Asp1595Tyr) c.870G>T (p.Met290Ile) n.2329G>T c.2182G>T (p.Asp728Tyr) c.2135G>T (n.2135G>T) c.*3097G>T (n.*3097G>T) c.4064G>T (n.4064G>T) c.2047G>T (p.Asp683Tyr) c.4786G>T (p.Asp1596Tyr) c.4546G>T (p.Asp1516Tyr) c.4357G>T (p.Asp1453Tyr) c.3286G>T (p.Asp1096Tyr) c.*64G>T (n.*64G>T) n.4824G>T c.4543G>T (p.Asp1515Tyr) c.4144G>T (p.Asp1382Tyr) c.3721G>T (p.Asp1241Tyr) c.2677G>T (p.Asp893Tyr) c.4006G>T (p.Asp1336Tyr) n.4854G>T | |
18 | g.70060007C>G | CA402695038 | RTTN | c.4783G>C (p.Asp1595His) c.870G>C (p.Met290Ile) n.2329G>C c.2182G>C (p.Asp728His) c.2135G>C (n.2135G>C) c.*3097G>C (n.*3097G>C) c.4064G>C (n.4064G>C) c.2047G>C (p.Asp683His) c.4786G>C (p.Asp1596His) c.4546G>C (p.Asp1516His) c.4357G>C (p.Asp1453His) c.3286G>C (p.Asp1096His) c.*64G>C (n.*64G>C) n.4824G>C c.4543G>C (p.Asp1515His) c.4144G>C (p.Asp1382His) c.3721G>C (p.Asp1241His) c.2677G>C (p.Asp893His) c.4006G>C (p.Asp1336His) n.4854G>C | |
18 | g.70060007C>T | CA402695046 | RTTN | c.4783G>A (p.Asp1595Asn) c.870G>A (p.Met290Ile) n.2329G>A c.2182G>A (p.Asp728Asn) c.2135G>A (n.2135G>A) c.*3097G>A (n.*3097G>A) c.4064G>A (n.4064G>A) c.2047G>A (p.Asp683Asn) c.4786G>A (p.Asp1596Asn) c.4546G>A (p.Asp1516Asn) c.4357G>A (p.Asp1453Asn) c.3286G>A (p.Asp1096Asn) c.*64G>A (n.*64G>A) n.4824G>A c.4543G>A (p.Asp1515Asn) c.4144G>A (p.Asp1382Asn) c.3721G>A (p.Asp1241Asn) c.2677G>A (p.Asp893Asn) c.4006G>A (p.Asp1336Asn) n.4854G>A | |
18 | g.70060008A= | CA2311957324 | RTTN | c.4782T= (p.His1594=) c.869T= (p.Met290=) n.2328T= c.2181T= (p.His727=) c.2134T= (n.2134T=) c.*3096T= (n.*3096T=) c.4063T= (n.4063T=) c.2046T= (p.His682=) c.4785T= (p.His1595=) c.4545T= (p.His1515=) c.4356T= (p.His1452=) c.3285T= (p.His1095=) c.*63T= (n.*63T=) n.4823T= c.4542T= (p.His1514=) c.4143T= (p.His1381=) c.3720T= (p.His1240=) c.2676T= (p.His892=) c.4005T= (p.His1335=) n.4853T= | |
18 | g.70060008A>C | CA402695047 | RTTN | c.4782T>G (p.His1594Gln) c.869T>G (p.Met290Arg) n.2328T>G c.2181T>G (p.His727Gln) c.2134T>G (n.2134T>G) c.*3096T>G (n.*3096T>G) c.4063T>G (n.4063T>G) c.2046T>G (p.His682Gln) c.4785T>G (p.His1595Gln) c.4545T>G (p.His1515Gln) c.4356T>G (p.His1452Gln) c.3285T>G (p.His1095Gln) c.*63T>G (n.*63T>G) n.4823T>G c.4542T>G (p.His1514Gln) c.4143T>G (p.His1381Gln) c.3720T>G (p.His1240Gln) c.2676T>G (p.His892Gln) c.4005T>G (p.His1335Gln) n.4853T>G | dbSNP gnomAD v2 gnomAD v4 |
18 | g.70060008A>G | CA504323523 | RTTN | c.4782T>C (p.His1594=) c.869T>C (p.Met290Thr) n.2328T>C c.2181T>C (p.His727=) c.2134T>C (n.2134T>C) c.*3096T>C (n.*3096T>C) c.4063T>C (n.4063T>C) c.2046T>C (p.His682=) c.4785T>C (p.His1595=) c.4545T>C (p.His1515=) c.4356T>C (p.His1452=) c.3285T>C (p.His1095=) c.*63T>C (n.*63T>C) n.4823T>C c.4542T>C (p.His1514=) c.4143T>C (p.His1381=) c.3720T>C (p.His1240=) c.2676T>C (p.His892=) c.4005T>C (p.His1335=) n.4853T>C | |
18 | g.70060008A>T | CA402695050 | RTTN | c.4782T>A (p.His1594Gln) c.869T>A (p.Met290Lys) n.2328T>A c.2181T>A (p.His727Gln) c.2134T>A (n.2134T>A) c.*3096T>A (n.*3096T>A) c.4063T>A (n.4063T>A) c.2046T>A (p.His682Gln) c.4785T>A (p.His1595Gln) c.4545T>A (p.His1515Gln) c.4356T>A (p.His1452Gln) c.3285T>A (p.His1095Gln) c.*63T>A (n.*63T>A) n.4823T>A c.4542T>A (p.His1514Gln) c.4143T>A (p.His1381Gln) c.3720T>A (p.His1240Gln) c.2676T>A (p.His892Gln) c.4005T>A (p.His1335Gln) n.4853T>A | |
18 | g.70060009T>A | CA402695054 | RTTN | c.4781A>T (p.His1594Leu) c.868A>T (p.Met290Leu) n.2327A>T c.2180A>T (p.His727Leu) c.2133A>T (n.2133A>T) c.*3095A>T (n.*3095A>T) c.4062A>T (n.4062A>T) c.2045A>T (p.His682Leu) c.4784A>T (p.His1595Leu) c.4544A>T (p.His1515Leu) c.4355A>T (p.His1452Leu) c.3284A>T (p.His1095Leu) c.*62A>T (n.*62A>T) n.4822A>T c.4541A>T (p.His1514Leu) c.4142A>T (p.His1381Leu) c.3719A>T (p.His1240Leu) c.2675A>T (p.His892Leu) c.4004A>T (p.His1335Leu) n.4852A>T | |
18 | g.70060009T>C | CA402695057 | RTTN | c.4781A>G (p.His1594Arg) c.868A>G (p.Met290Val) n.2327A>G c.2180A>G (p.His727Arg) c.2133A>G (n.2133A>G) c.*3095A>G (n.*3095A>G) c.4062A>G (n.4062A>G) c.2045A>G (p.His682Arg) c.4784A>G (p.His1595Arg) c.4544A>G (p.His1515Arg) c.4355A>G (p.His1452Arg) c.3284A>G (p.His1095Arg) c.*62A>G (n.*62A>G) n.4822A>G c.4541A>G (p.His1514Arg) c.4142A>G (p.His1381Arg) c.3719A>G (p.His1240Arg) c.2675A>G (p.His892Arg) c.4004A>G (p.His1335Arg) n.4852A>G | gnomAD v4 |
18 | g.70060009T>G | CA402695055 | RTTN | c.4781A>C (p.His1594Pro) c.868A>C (p.Met290Leu) n.2327A>C c.2180A>C (p.His727Pro) c.2133A>C (n.2133A>C) c.*3095A>C (n.*3095A>C) c.4062A>C (n.4062A>C) c.2045A>C (p.His682Pro) c.4784A>C (p.His1595Pro) c.4544A>C (p.His1515Pro) c.4355A>C (p.His1452Pro) c.3284A>C (p.His1095Pro) c.*62A>C (n.*62A>C) n.4822A>C c.4541A>C (p.His1514Pro) c.4142A>C (p.His1381Pro) c.3719A>C (p.His1240Pro) c.2675A>C (p.His892Pro) c.4004A>C (p.His1335Pro) n.4852A>C | gnomAD v4 |
18 | g.70060009T= | CA2311957325 | RTTN | c.4781A= (p.His1594=) c.868A= (p.Met290=) n.2327A= c.2180A= (p.His727=) c.2133A= (n.2133A=) c.*3095A= (n.*3095A=) c.4062A= (n.4062A=) c.2045A= (p.His682=) c.4784A= (p.His1595=) c.4544A= (p.His1515=) c.4355A= (p.His1452=) c.3284A= (p.His1095=) c.*62A= (n.*62A=) n.4822A= c.4541A= (p.His1514=) c.4142A= (p.His1381=) c.3719A= (p.His1240=) c.2675A= (p.His892=) c.4004A= (p.His1335=) n.4852A= | |
18 | g.70060009_70060010insAGA | CA920014660 | RTTN | c.4780_4781insTCT (p.His1594delinsLeuTyr) c.867_868insTCT (p.Leu289_Met290insSer) n.2326_2327insTCT c.2179_2180insTCT (p.His727delinsLeuTyr) c.2132_2133insTCT (n.2132_2133insTCT) c.*3094_*3095insTCT (n.*3094_*3095insTCT) c.4061_4062insTCT (n.4061_4062insTCT) c.2044_2045insTCT (p.His682delinsLeuTyr) c.4783_4784insTCT (p.His1595delinsLeuTyr) c.4543_4544insTCT (p.His1515delinsLeuTyr) c.4354_4355insTCT (p.His1452delinsLeuTyr) c.3283_3284insTCT (p.His1095delinsLeuTyr) c.*61_*62insTCT (n.*61_*62insTCT) n.4821_4822insTCT c.4540_4541insTCT (p.His1514delinsLeuTyr) c.4141_4142insTCT (p.His1381delinsLeuTyr) c.3718_3719insTCT (p.His1240delinsLeuTyr) c.2674_2675insTCT (p.His892delinsLeuTyr) c.4003_4004insTCT (p.His1335delinsLeuTyr) n.4851_4852insTCT | dbSNP |
18 | g.70060010G>A | CA402695059 | RTTN | c.4780C>T (p.His1594Tyr) c.867C>T (p.Leu289=) n.2326C>T c.2179C>T (p.His727Tyr) c.2132C>T (n.2132C>T) c.*3094C>T (n.*3094C>T) c.4061C>T (n.4061C>T) c.2044C>T (p.His682Tyr) c.4783C>T (p.His1595Tyr) c.4543C>T (p.His1515Tyr) c.4354C>T (p.His1452Tyr) c.3283C>T (p.His1095Tyr) c.*61C>T (n.*61C>T) n.4821C>T c.4540C>T (p.His1514Tyr) c.4141C>T (p.His1381Tyr) c.3718C>T (p.His1240Tyr) c.2674C>T (p.His892Tyr) c.4003C>T (p.His1335Tyr) n.4851C>T | |
18 | g.70060010G>C | CA402695062 | RTTN | c.4780C>G (p.His1594Asp) c.867C>G (p.Leu289=) n.2326C>G c.2179C>G (p.His727Asp) c.2132C>G (n.2132C>G) c.*3094C>G (n.*3094C>G) c.4061C>G (n.4061C>G) c.2044C>G (p.His682Asp) c.4783C>G (p.His1595Asp) c.4543C>G (p.His1515Asp) c.4354C>G (p.His1452Asp) c.3283C>G (p.His1095Asp) c.*61C>G (n.*61C>G) n.4821C>G c.4540C>G (p.His1514Asp) c.4141C>G (p.His1381Asp) c.3718C>G (p.His1240Asp) c.2674C>G (p.His892Asp) c.4003C>G (p.His1335Asp) n.4851C>G | |
18 | g.70060010G>T | CA402695060 | RTTN | c.4780C>A (p.His1594Asn) c.867C>A (p.Leu289=) n.2326C>A c.2179C>A (p.His727Asn) c.2132C>A (n.2132C>A) c.*3094C>A (n.*3094C>A) c.4061C>A (n.4061C>A) c.2044C>A (p.His682Asn) c.4783C>A (p.His1595Asn) c.4543C>A (p.His1515Asn) c.4354C>A (p.His1452Asn) c.3283C>A (p.His1095Asn) c.*61C>A (n.*61C>A) n.4821C>A c.4540C>A (p.His1514Asn) c.4141C>A (p.His1381Asn) c.3718C>A (p.His1240Asn) c.2674C>A (p.His892Asn) c.4003C>A (p.His1335Asn) n.4851C>A | |
18 | g.70060011A= | CA2311957326 | RTTN | c.4779T= (p.Pro1593=) c.866T= (p.Leu289=) n.2325T= c.2178T= (p.Pro726=) c.2131T= (n.2131T=) c.*3093T= (n.*3093T=) c.4060T= (n.4060T=) c.2043T= (p.Pro681=) c.4782T= (p.Pro1594=) c.4542T= (p.Pro1514=) c.4353T= (p.Pro1451=) c.3282T= (p.Pro1094=) c.*60T= (n.*60T=) n.4820T= c.4539T= (p.Pro1513=) c.4140T= (p.Pro1380=) c.3717T= (p.Pro1239=) c.2673T= (p.Pro891=) c.4002T= (p.Pro1334=) n.4850T= | |
18 | g.70060011A>C | CA504323525 | RTTN | c.4779T>G (p.Pro1593=) c.866T>G (p.Leu289Arg) n.2325T>G c.2178T>G (p.Pro726=) c.2131T>G (n.2131T>G) c.*3093T>G (n.*3093T>G) c.4060T>G (n.4060T>G) c.2043T>G (p.Pro681=) c.4782T>G (p.Pro1594=) c.4542T>G (p.Pro1514=) c.4353T>G (p.Pro1451=) c.3282T>G (p.Pro1094=) c.*60T>G (n.*60T>G) n.4820T>G c.4539T>G (p.Pro1513=) c.4140T>G (p.Pro1380=) c.3717T>G (p.Pro1239=) c.2673T>G (p.Pro891=) c.4002T>G (p.Pro1334=) n.4850T>G | dbSNP gnomAD v2 gnomAD v4 |
18 | g.70060011A>G | CA504323529 | RTTN | c.4779T>C (p.Pro1593=) c.866T>C (p.Leu289Pro) n.2325T>C c.2178T>C (p.Pro726=) c.2131T>C (n.2131T>C) c.*3093T>C (n.*3093T>C) c.4060T>C (n.4060T>C) c.2043T>C (p.Pro681=) c.4782T>C (p.Pro1594=) c.4542T>C (p.Pro1514=) c.4353T>C (p.Pro1451=) c.3282T>C (p.Pro1094=) c.*60T>C (n.*60T>C) n.4820T>C c.4539T>C (p.Pro1513=) c.4140T>C (p.Pro1380=) c.3717T>C (p.Pro1239=) c.2673T>C (p.Pro891=) c.4002T>C (p.Pro1334=) n.4850T>C | dbSNP |
18 | g.70060011A>T | CA504323528 | RTTN | c.4779T>A (p.Pro1593=) c.866T>A (p.Leu289His) n.2325T>A c.2178T>A (p.Pro726=) c.2131T>A (n.2131T>A) c.*3093T>A (n.*3093T>A) c.4060T>A (n.4060T>A) c.2043T>A (p.Pro681=) c.4782T>A (p.Pro1594=) c.4542T>A (p.Pro1514=) c.4353T>A (p.Pro1451=) c.3282T>A (p.Pro1094=) c.*60T>A (n.*60T>A) n.4820T>A c.4539T>A (p.Pro1513=) c.4140T>A (p.Pro1380=) c.3717T>A (p.Pro1239=) c.2673T>A (p.Pro891=) c.4002T>A (p.Pro1334=) n.4850T>A | |
18 | g.70060012G>A | CA402695064 | RTTN | c.4778C>T (p.Pro1593Leu) c.865C>T (p.Leu289Phe) n.2324C>T c.2177C>T (p.Pro726Leu) c.2130C>T (n.2130C>T) c.*3092C>T (n.*3092C>T) c.4059C>T (n.4059C>T) c.2042C>T (p.Pro681Leu) c.4781C>T (p.Pro1594Leu) c.4541C>T (p.Pro1514Leu) c.4352C>T (p.Pro1451Leu) c.3281C>T (p.Pro1094Leu) c.*59C>T (n.*59C>T) n.4819C>T c.4538C>T (p.Pro1513Leu) c.4139C>T (p.Pro1380Leu) c.3716C>T (p.Pro1239Leu) c.2672C>T (p.Pro891Leu) c.4001C>T (p.Pro1334Leu) n.4849C>T | |
18 | g.70060012G>C | CA402695065 | RTTN | c.4778C>G (p.Pro1593Arg) c.865C>G (p.Leu289Val) n.2324C>G c.2177C>G (p.Pro726Arg) c.2130C>G (n.2130C>G) c.*3092C>G (n.*3092C>G) c.4059C>G (n.4059C>G) c.2042C>G (p.Pro681Arg) c.4781C>G (p.Pro1594Arg) c.4541C>G (p.Pro1514Arg) c.4352C>G (p.Pro1451Arg) c.3281C>G (p.Pro1094Arg) c.*59C>G (n.*59C>G) n.4819C>G c.4538C>G (p.Pro1513Arg) c.4139C>G (p.Pro1380Arg) c.3716C>G (p.Pro1239Arg) c.2672C>G (p.Pro891Arg) c.4001C>G (p.Pro1334Arg) n.4849C>G | |
18 | g.70060012G>T | CA402695066 | RTTN | c.4778C>A (p.Pro1593His) c.865C>A (p.Leu289Ile) n.2324C>A c.2177C>A (p.Pro726His) c.2130C>A (n.2130C>A) c.*3092C>A (n.*3092C>A) c.4059C>A (n.4059C>A) c.2042C>A (p.Pro681His) c.4781C>A (p.Pro1594His) c.4541C>A (p.Pro1514His) c.4352C>A (p.Pro1451His) c.3281C>A (p.Pro1094His) c.*59C>A (n.*59C>A) n.4819C>A c.4538C>A (p.Pro1513His) c.4139C>A (p.Pro1380His) c.3716C>A (p.Pro1239His) c.2672C>A (p.Pro891His) c.4001C>A (p.Pro1334His) n.4849C>A | |
18 | g.70060013G>A | CA402695067 | RTTN | c.4777C>T (p.Pro1593Ser) c.864C>T (p.His288=) n.2323C>T c.2176C>T (p.Pro726Ser) c.2129C>T (n.2129C>T) c.*3091C>T (n.*3091C>T) c.4058C>T (n.4058C>T) c.2041C>T (p.Pro681Ser) c.4780C>T (p.Pro1594Ser) c.4540C>T (p.Pro1514Ser) c.4351C>T (p.Pro1451Ser) c.3280C>T (p.Pro1094Ser) c.*58C>T (n.*58C>T) n.4818C>T c.4537C>T (p.Pro1513Ser) c.4138C>T (p.Pro1380Ser) c.3715C>T (p.Pro1239Ser) c.2671C>T (p.Pro891Ser) c.4000C>T (p.Pro1334Ser) n.4848C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.70060013G>C | CA402695069 | RTTN | c.4777C>G (p.Pro1593Ala) c.864C>G (p.His288Gln) n.2323C>G c.2176C>G (p.Pro726Ala) c.2129C>G (n.2129C>G) c.*3091C>G (n.*3091C>G) c.4058C>G (n.4058C>G) c.2041C>G (p.Pro681Ala) c.4780C>G (p.Pro1594Ala) c.4540C>G (p.Pro1514Ala) c.4351C>G (p.Pro1451Ala) c.3280C>G (p.Pro1094Ala) c.*58C>G (n.*58C>G) n.4818C>G c.4537C>G (p.Pro1513Ala) c.4138C>G (p.Pro1380Ala) c.3715C>G (p.Pro1239Ala) c.2671C>G (p.Pro891Ala) c.4000C>G (p.Pro1334Ala) n.4848C>G | |
18 | g.70060013G= | CA2311957327 | RTTN | c.4777C= (p.Pro1593=) c.864C= (p.His288=) n.2323C= c.2176C= (p.Pro726=) c.2129C= (n.2129C=) c.*3091C= (n.*3091C=) c.4058C= (n.4058C=) c.2041C= (p.Pro681=) c.4780C= (p.Pro1594=) c.4540C= (p.Pro1514=) c.4351C= (p.Pro1451=) c.3280C= (p.Pro1094=) c.*58C= (n.*58C=) n.4818C= c.4537C= (p.Pro1513=) c.4138C= (p.Pro1380=) c.3715C= (p.Pro1239=) c.2671C= (p.Pro891=) c.4000C= (p.Pro1334=) n.4848C= | |
18 | g.70060013G>T | CA402695071 | RTTN | c.4777C>A (p.Pro1593Thr) c.864C>A (p.His288Gln) n.2323C>A c.2176C>A (p.Pro726Thr) c.2129C>A (n.2129C>A) c.*3091C>A (n.*3091C>A) c.4058C>A (n.4058C>A) c.2041C>A (p.Pro681Thr) c.4780C>A (p.Pro1594Thr) c.4540C>A (p.Pro1514Thr) c.4351C>A (p.Pro1451Thr) c.3280C>A (p.Pro1094Thr) c.*58C>A (n.*58C>A) n.4818C>A c.4537C>A (p.Pro1513Thr) c.4138C>A (p.Pro1380Thr) c.3715C>A (p.Pro1239Thr) c.2671C>A (p.Pro891Thr) c.4000C>A (p.Pro1334Thr) n.4848C>A | |
18 | g.70060014T>A | CA504323531 | RTTN | c.4776A>T (p.Pro1592=) c.863A>T (p.His288Leu) n.2322A>T c.2175A>T (p.Pro725=) c.2128A>T (n.2128A>T) c.*3090A>T (n.*3090A>T) c.4057A>T (n.4057A>T) c.2040A>T (p.Pro680=) c.4779A>T (p.Pro1593=) c.4539A>T (p.Pro1513=) c.4350A>T (p.Pro1450=) c.3279A>T (p.Pro1093=) c.*57A>T (n.*57A>T) n.4817A>T c.4536A>T (p.Pro1512=) c.4137A>T (p.Pro1379=) c.3714A>T (p.Pro1238=) c.2670A>T (p.Pro890=) c.3999A>T (p.Pro1333=) n.4847A>T | |
18 | g.70060014T>C | CA504323532 | RTTN | c.4776A>G (p.Pro1592=) c.863A>G (p.His288Arg) n.2322A>G c.2175A>G (p.Pro725=) c.2128A>G (n.2128A>G) c.*3090A>G (n.*3090A>G) c.4057A>G (n.4057A>G) c.2040A>G (p.Pro680=) c.4779A>G (p.Pro1593=) c.4539A>G (p.Pro1513=) c.4350A>G (p.Pro1450=) c.3279A>G (p.Pro1093=) c.*57A>G (n.*57A>G) n.4817A>G c.4536A>G (p.Pro1512=) c.4137A>G (p.Pro1379=) c.3714A>G (p.Pro1238=) c.2670A>G (p.Pro890=) c.3999A>G (p.Pro1333=) n.4847A>G | gnomAD v4 |
18 | g.70060014T>G | CA504323533 | RTTN | c.4776A>C (p.Pro1592=) c.863A>C (p.His288Pro) n.2322A>C c.2175A>C (p.Pro725=) c.2128A>C (n.2128A>C) c.*3090A>C (n.*3090A>C) c.4057A>C (n.4057A>C) c.2040A>C (p.Pro680=) c.4779A>C (p.Pro1593=) c.4539A>C (p.Pro1513=) c.4350A>C (p.Pro1450=) c.3279A>C (p.Pro1093=) c.*57A>C (n.*57A>C) n.4817A>C c.4536A>C (p.Pro1512=) c.4137A>C (p.Pro1379=) c.3714A>C (p.Pro1238=) c.2670A>C (p.Pro890=) c.3999A>C (p.Pro1333=) n.4847A>C | |
18 | g.70060015G>A | CA402695073 | RTTN | c.4775C>T (p.Pro1592Leu) c.862C>T (p.His288Tyr) n.2321C>T c.2174C>T (p.Pro725Leu) c.2127C>T (n.2127C>T) c.*3089C>T (n.*3089C>T) c.4056C>T (n.4056C>T) c.2039C>T (p.Pro680Leu) c.4778C>T (p.Pro1593Leu) c.4538C>T (p.Pro1513Leu) c.4349C>T (p.Pro1450Leu) c.3278C>T (p.Pro1093Leu) c.*56C>T (n.*56C>T) n.4816C>T c.4535C>T (p.Pro1512Leu) c.4136C>T (p.Pro1379Leu) c.3713C>T (p.Pro1238Leu) c.2669C>T (p.Pro890Leu) c.3998C>T (p.Pro1333Leu) n.4846C>T | |
18 | g.70060015G>C | CA402695075 | RTTN | c.4775C>G (p.Pro1592Arg) c.862C>G (p.His288Asp) n.2321C>G c.2174C>G (p.Pro725Arg) c.2127C>G (n.2127C>G) c.*3089C>G (n.*3089C>G) c.4056C>G (n.4056C>G) c.2039C>G (p.Pro680Arg) c.4778C>G (p.Pro1593Arg) c.4538C>G (p.Pro1513Arg) c.4349C>G (p.Pro1450Arg) c.3278C>G (p.Pro1093Arg) c.*56C>G (n.*56C>G) n.4816C>G c.4535C>G (p.Pro1512Arg) c.4136C>G (p.Pro1379Arg) c.3713C>G (p.Pro1238Arg) c.2669C>G (p.Pro890Arg) c.3998C>G (p.Pro1333Arg) n.4846C>G | |
18 | g.70060015G>T | CA402695077 | RTTN | c.4775C>A (p.Pro1592Gln) c.862C>A (p.His288Asn) n.2321C>A c.2174C>A (p.Pro725Gln) c.2127C>A (n.2127C>A) c.*3089C>A (n.*3089C>A) c.4056C>A (n.4056C>A) c.2039C>A (p.Pro680Gln) c.4778C>A (p.Pro1593Gln) c.4538C>A (p.Pro1513Gln) c.4349C>A (p.Pro1450Gln) c.3278C>A (p.Pro1093Gln) c.*56C>A (n.*56C>A) n.4816C>A c.4535C>A (p.Pro1512Gln) c.4136C>A (p.Pro1379Gln) c.3713C>A (p.Pro1238Gln) c.2669C>A (p.Pro890Gln) c.3998C>A (p.Pro1333Gln) n.4846C>A | |
18 | g.70060016G>A | CA8995121 | RTTN | c.4774C>T (p.Pro1592Ser) c.861C>T (p.Gly287=) n.2320C>T c.2173C>T (p.Pro725Ser) c.2126C>T (n.2126C>T) c.*3088C>T (n.*3088C>T) c.4055C>T (n.4055C>T) c.2038C>T (p.Pro680Ser) c.4777C>T (p.Pro1593Ser) c.4537C>T (p.Pro1513Ser) c.4348C>T (p.Pro1450Ser) c.3277C>T (p.Pro1093Ser) c.*55C>T (n.*55C>T) n.4815C>T c.4534C>T (p.Pro1512Ser) c.4135C>T (p.Pro1379Ser) c.3712C>T (p.Pro1238Ser) c.2668C>T (p.Pro890Ser) c.3997C>T (p.Pro1333Ser) n.4845C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.70060016G>C | CA402695078 | RTTN | c.4774C>G (p.Pro1592Ala) c.861C>G (p.Gly287=) n.2320C>G c.2173C>G (p.Pro725Ala) c.2126C>G (n.2126C>G) c.*3088C>G (n.*3088C>G) c.4055C>G (n.4055C>G) c.2038C>G (p.Pro680Ala) c.4777C>G (p.Pro1593Ala) c.4537C>G (p.Pro1513Ala) c.4348C>G (p.Pro1450Ala) c.3277C>G (p.Pro1093Ala) c.*55C>G (n.*55C>G) n.4815C>G c.4534C>G (p.Pro1512Ala) c.4135C>G (p.Pro1379Ala) c.3712C>G (p.Pro1238Ala) c.2668C>G (p.Pro890Ala) c.3997C>G (p.Pro1333Ala) n.4845C>G | |
18 | g.70060016G= | CA2311957328 | RTTN | c.4774C= (p.Pro1592=) c.861C= (p.Gly287=) n.2320C= c.2173C= (p.Pro725=) c.2126C= (n.2126C=) c.*3088C= (n.*3088C=) c.4055C= (n.4055C=) c.2038C= (p.Pro680=) c.4777C= (p.Pro1593=) c.4537C= (p.Pro1513=) c.4348C= (p.Pro1450=) c.3277C= (p.Pro1093=) c.*55C= (n.*55C=) n.4815C= c.4534C= (p.Pro1512=) c.4135C= (p.Pro1379=) c.3712C= (p.Pro1238=) c.2668C= (p.Pro890=) c.3997C= (p.Pro1333=) n.4845C= | |
18 | g.70060016G>T | CA402695080 | RTTN | c.4774C>A (p.Pro1592Thr) c.861C>A (p.Gly287=) n.2320C>A c.2173C>A (p.Pro725Thr) c.2126C>A (n.2126C>A) c.*3088C>A (n.*3088C>A) c.4055C>A (n.4055C>A) c.2038C>A (p.Pro680Thr) c.4777C>A (p.Pro1593Thr) c.4537C>A (p.Pro1513Thr) c.4348C>A (p.Pro1450Thr) c.3277C>A (p.Pro1093Thr) c.*55C>A (n.*55C>A) n.4815C>A c.4534C>A (p.Pro1512Thr) c.4135C>A (p.Pro1379Thr) c.3712C>A (p.Pro1238Thr) c.2668C>A (p.Pro890Thr) c.3997C>A (p.Pro1333Thr) n.4845C>A | |
18 | g.70060016_70060041delinsGCCGTGGTGATGTACTTTCCTGGTGA | CA2311957329 | RTTN | c.4749_4774delinsTCACCAGGAAAGTACATCACCACGGC (p.Gly1583=) c.836_861delinsTCACCAGGAAAGTACATCACCACGGC (p.Val279=) n.2295_2320delinsTCACCAGGAAAGTACATCACCACGGC c.2148_2173delinsTCACCAGGAAAGTACATCACCACGGC (p.Gly716=) c.2101_2126delinsTCACCAGGAAAGTACATCACCACGGC (n.2101_2126delinsTCACCAGGAAAGTACATCACCACGGC) c.*3063_*3088delinsTCACCAGGAAAGTACATCACCACGGC (n.*3063_*3088delinsTCACCAGGAAAGTACATCACCACGGC) c.4030_4055delinsTCACCAGGAAAGTACATCACCACGGC (n.4030_4055delinsTCACCAGGAAAGTACATCACCACGGC) c.2013_2038delinsTCACCAGGAAAGTACATCACCACGGC (p.Gly671=) c.4752_4777delinsTCACCAGGAAAGTACATCACCACGGC (p.Gly1584=) c.4512_4537delinsTCACCAGGAAAGTACATCACCACGGC (p.Gly1504=) c.4323_4348delinsTCACCAGGAAAGTACATCACCACGGC (p.Gly1441=) c.3252_3277delinsTCACCAGGAAAGTACATCACCACGGC (p.Gly1084=) c.*30_*55delinsTCACCAGGAAAGTACATCACCACGGC (n.*30_*55delinsTCACCAGGAAAGTACATCACCACGGC) n.4790_4815delinsTCACCAGGAAAGTACATCACCACGGC c.4509_4534delinsTCACCAGGAAAGTACATCACCACGGC (p.Gly1503=) c.4110_4135delinsTCACCAGGAAAGTACATCACCACGGC (p.Gly1370=) c.3687_3712delinsTCACCAGGAAAGTACATCACCACGGC (p.Gly1229=) c.2643_2668delinsTCACCAGGAAAGTACATCACCACGGC (p.Gly881=) c.3972_3997delinsTCACCAGGAAAGTACATCACCACGGC (p.Gly1324=) n.4820_4845delinsTCACCAGGAAAGTACATCACCACGGC | |
18 | g.70060017C>A | CA504323536 | RTTN | c.4773G>T (p.Arg1591=) c.860G>T (p.Gly287Val) n.2319G>T c.2172G>T (p.Arg724=) c.2125G>T (n.2125G>T) c.*3087G>T (n.*3087G>T) c.4054G>T (n.4054G>T) c.2037G>T (p.Arg679=) c.4776G>T (p.Arg1592=) c.4536G>T (p.Arg1512=) c.4347G>T (p.Arg1449=) c.3276G>T (p.Arg1092=) c.*54G>T (n.*54G>T) n.4814G>T c.4533G>T (p.Arg1511=) c.4134G>T (p.Arg1378=) c.3711G>T (p.Arg1237=) c.2667G>T (p.Arg889=) c.3996G>T (p.Arg1332=) n.4844G>T | gnomAD v4 |
18 | g.70060017C>G | CA504323537 | RTTN | c.4773G>C (p.Arg1591=) c.860G>C (p.Gly287Ala) n.2319G>C c.2172G>C (p.Arg724=) c.2125G>C (n.2125G>C) c.*3087G>C (n.*3087G>C) c.4054G>C (n.4054G>C) c.2037G>C (p.Arg679=) c.4776G>C (p.Arg1592=) c.4536G>C (p.Arg1512=) c.4347G>C (p.Arg1449=) c.3276G>C (p.Arg1092=) c.*54G>C (n.*54G>C) n.4814G>C c.4533G>C (p.Arg1511=) c.4134G>C (p.Arg1378=) c.3711G>C (p.Arg1237=) c.2667G>C (p.Arg889=) c.3996G>C (p.Arg1332=) n.4844G>C | |
18 | g.70060017C>T | CA504323538 | RTTN | c.4773G>A (p.Arg1591=) c.860G>A (p.Gly287Asp) n.2319G>A c.2172G>A (p.Arg724=) c.2125G>A (n.2125G>A) c.*3087G>A (n.*3087G>A) c.4054G>A (n.4054G>A) c.2037G>A (p.Arg679=) c.4776G>A (p.Arg1592=) c.4536G>A (p.Arg1512=) c.4347G>A (p.Arg1449=) c.3276G>A (p.Arg1092=) c.*54G>A (n.*54G>A) n.4814G>A c.4533G>A (p.Arg1511=) c.4134G>A (p.Arg1378=) c.3711G>A (p.Arg1237=) c.2667G>A (p.Arg889=) c.3996G>A (p.Arg1332=) n.4844G>A | gnomAD v4 |
18 | g.70060019_70060043del | CA2311957330 | RTTN | c.4749_4773del c.836_860del n.2295_2319del c.2148_2172del c.2101_2125del c.*3063_*3087del c.4030_4054del c.2013_2037del c.4752_4776del c.4512_4536del c.4323_4347del c.3252_3276del c.*30_*54del n.4790_4814del c.4509_4533del c.4110_4134del c.3687_3711del c.2643_2667del c.3972_3996del n.4820_4844del | dbSNP |
18 | g.70060018C>A | CA402695081 | RTTN | c.4772G>T (p.Arg1591Leu) c.859G>T (p.Gly287Cys) n.2318G>T c.2171G>T (p.Arg724Leu) c.2124G>T (n.2124G>T) c.*3086G>T (n.*3086G>T) c.4053G>T (n.4053G>T) c.2036G>T (p.Arg679Leu) c.4775G>T (p.Arg1592Leu) c.4535G>T (p.Arg1512Leu) c.4346G>T (p.Arg1449Leu) c.3275G>T (p.Arg1092Leu) c.*53G>T (n.*53G>T) n.4813G>T c.4532G>T (p.Arg1511Leu) c.4133G>T (p.Arg1378Leu) c.3710G>T (p.Arg1237Leu) c.2666G>T (p.Arg889Leu) c.3995G>T (p.Arg1332Leu) n.4843G>T | gnomAD v4 |
18 | g.70060018C= | CA2311957331 | RTTN | c.4772G= (p.Arg1591=) c.859G= (p.Gly287=) n.2318G= c.2171G= (p.Arg724=) c.2124G= (n.2124G=) c.*3086G= (n.*3086G=) c.4053G= (n.4053G=) c.2036G= (p.Arg679=) c.4775G= (p.Arg1592=) c.4535G= (p.Arg1512=) c.4346G= (p.Arg1449=) c.3275G= (p.Arg1092=) c.*53G= (n.*53G=) n.4813G= c.4532G= (p.Arg1511=) c.4133G= (p.Arg1378=) c.3710G= (p.Arg1237=) c.2666G= (p.Arg889=) c.3995G= (p.Arg1332=) n.4843G= | |
18 | g.70060018C>G | CA402695082 | RTTN | c.4772G>C (p.Arg1591Pro) c.859G>C (p.Gly287Arg) n.2318G>C c.2171G>C (p.Arg724Pro) c.2124G>C (n.2124G>C) c.*3086G>C (n.*3086G>C) c.4053G>C (n.4053G>C) c.2036G>C (p.Arg679Pro) c.4775G>C (p.Arg1592Pro) c.4535G>C (p.Arg1512Pro) c.4346G>C (p.Arg1449Pro) c.3275G>C (p.Arg1092Pro) c.*53G>C (n.*53G>C) n.4813G>C c.4532G>C (p.Arg1511Pro) c.4133G>C (p.Arg1378Pro) c.3710G>C (p.Arg1237Pro) c.2666G>C (p.Arg889Pro) c.3995G>C (p.Arg1332Pro) n.4843G>C | |
18 | g.70060018C>T | CA8995122 | RTTN | c.4772G>A (p.Arg1591Gln) c.859G>A (p.Gly287Ser) n.2318G>A c.2171G>A (p.Arg724Gln) c.2124G>A (n.2124G>A) c.*3086G>A (n.*3086G>A) c.4053G>A (n.4053G>A) c.2036G>A (p.Arg679Gln) c.4775G>A (p.Arg1592Gln) c.4535G>A (p.Arg1512Gln) c.4346G>A (p.Arg1449Gln) c.3275G>A (p.Arg1092Gln) c.*53G>A (n.*53G>A) n.4813G>A c.4532G>A (p.Arg1511Gln) c.4133G>A (p.Arg1378Gln) c.3710G>A (p.Arg1237Gln) c.2666G>A (p.Arg889Gln) c.3995G>A (p.Arg1332Gln) n.4843G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.70060019G>A | CA8995123 | RTTN | c.4771C>T (p.Arg1591Trp) c.858C>T (p.His286=) n.2317C>T c.2170C>T (p.Arg724Trp) c.2123C>T (n.2123C>T) c.*3085C>T (n.*3085C>T) c.4052C>T (n.4052C>T) c.2035C>T (p.Arg679Trp) c.4774C>T (p.Arg1592Trp) c.4534C>T (p.Arg1512Trp) c.4345C>T (p.Arg1449Trp) c.3274C>T (p.Arg1092Trp) c.*52C>T (n.*52C>T) n.4812C>T c.4531C>T (p.Arg1511Trp) c.4132C>T (p.Arg1378Trp) c.3709C>T (p.Arg1237Trp) c.2665C>T (p.Arg889Trp) c.3994C>T (p.Arg1332Trp) n.4842C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.70060019G>C | CA402695084 | RTTN | c.4771C>G (p.Arg1591Gly) c.858C>G (p.His286Gln) n.2317C>G c.2170C>G (p.Arg724Gly) c.2123C>G (n.2123C>G) c.*3085C>G (n.*3085C>G) c.4052C>G (n.4052C>G) c.2035C>G (p.Arg679Gly) c.4774C>G (p.Arg1592Gly) c.4534C>G (p.Arg1512Gly) c.4345C>G (p.Arg1449Gly) c.3274C>G (p.Arg1092Gly) c.*52C>G (n.*52C>G) n.4812C>G c.4531C>G (p.Arg1511Gly) c.4132C>G (p.Arg1378Gly) c.3709C>G (p.Arg1237Gly) c.2665C>G (p.Arg889Gly) c.3994C>G (p.Arg1332Gly) n.4842C>G | |
18 | g.70060019G= | CA2311957332 | RTTN | c.4771C= (p.Arg1591=) c.858C= (p.His286=) n.2317C= c.2170C= (p.Arg724=) c.2123C= (n.2123C=) c.*3085C= (n.*3085C=) c.4052C= (n.4052C=) c.2035C= (p.Arg679=) c.4774C= (p.Arg1592=) c.4534C= (p.Arg1512=) c.4345C= (p.Arg1449=) c.3274C= (p.Arg1092=) c.*52C= (n.*52C=) n.4812C= c.4531C= (p.Arg1511=) c.4132C= (p.Arg1378=) c.3709C= (p.Arg1237=) c.2665C= (p.Arg889=) c.3994C= (p.Arg1332=) n.4842C= | |
18 | g.70060019G>T | CA504323543 | RTTN | c.4771C>A (p.Arg1591=) c.858C>A (p.His286Gln) n.2317C>A c.2170C>A (p.Arg724=) c.2123C>A (n.2123C>A) c.*3085C>A (n.*3085C>A) c.4052C>A (n.4052C>A) c.2035C>A (p.Arg679=) c.4774C>A (p.Arg1592=) c.4534C>A (p.Arg1512=) c.4345C>A (p.Arg1449=) c.3274C>A (p.Arg1092=) c.*52C>A (n.*52C>A) n.4812C>A c.4531C>A (p.Arg1511=) c.4132C>A (p.Arg1378=) c.3709C>A (p.Arg1237=) c.2665C>A (p.Arg889=) c.3994C>A (p.Arg1332=) n.4842C>A | |
18 | g.70060020T>A | CA504323544 | RTTN | c.4770A>T (p.Pro1590=) c.857A>T (p.His286Leu) n.2316A>T c.2169A>T (p.Pro723=) c.2122A>T (n.2122A>T) c.*3084A>T (n.*3084A>T) c.4051A>T (n.4051A>T) c.2034A>T (p.Pro678=) c.4773A>T (p.Pro1591=) c.4533A>T (p.Pro1511=) c.4344A>T (p.Pro1448=) c.3273A>T (p.Pro1091=) c.*51A>T (n.*51A>T) n.4811A>T c.4530A>T (p.Pro1510=) c.4131A>T (p.Pro1377=) c.3708A>T (p.Pro1236=) c.2664A>T (p.Pro888=) c.3993A>T (p.Pro1331=) n.4841A>T | |
18 | g.70060020T>C | CA504323545 | RTTN | c.4770A>G (p.Pro1590=) c.857A>G (p.His286Arg) n.2316A>G c.2169A>G (p.Pro723=) c.2122A>G (n.2122A>G) c.*3084A>G (n.*3084A>G) c.4051A>G (n.4051A>G) c.2034A>G (p.Pro678=) c.4773A>G (p.Pro1591=) c.4533A>G (p.Pro1511=) c.4344A>G (p.Pro1448=) c.3273A>G (p.Pro1091=) c.*51A>G (n.*51A>G) n.4811A>G c.4530A>G (p.Pro1510=) c.4131A>G (p.Pro1377=) c.3708A>G (p.Pro1236=) c.2664A>G (p.Pro888=) c.3993A>G (p.Pro1331=) n.4841A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.70060020T>G | CA504323546 | RTTN | c.4770A>C (p.Pro1590=) c.857A>C (p.His286Pro) n.2316A>C c.2169A>C (p.Pro723=) c.2122A>C (n.2122A>C) c.*3084A>C (n.*3084A>C) c.4051A>C (n.4051A>C) c.2034A>C (p.Pro678=) c.4773A>C (p.Pro1591=) c.4533A>C (p.Pro1511=) c.4344A>C (p.Pro1448=) c.3273A>C (p.Pro1091=) c.*51A>C (n.*51A>C) n.4811A>C c.4530A>C (p.Pro1510=) c.4131A>C (p.Pro1377=) c.3708A>C (p.Pro1236=) c.2664A>C (p.Pro888=) c.3993A>C (p.Pro1331=) n.4841A>C | gnomAD v4 |
18 | g.70060020T= | CA2311957333 | RTTN | c.4770A= (p.Pro1590=) c.857A= (p.His286=) n.2316A= c.2169A= (p.Pro723=) c.2122A= (n.2122A=) c.*3084A= (n.*3084A=) c.4051A= (n.4051A=) c.2034A= (p.Pro678=) c.4773A= (p.Pro1591=) c.4533A= (p.Pro1511=) c.4344A= (p.Pro1448=) c.3273A= (p.Pro1091=) c.*51A= (n.*51A=) n.4811A= c.4530A= (p.Pro1510=) c.4131A= (p.Pro1377=) c.3708A= (p.Pro1236=) c.2664A= (p.Pro888=) c.3993A= (p.Pro1331=) n.4841A= | |
18 | g.70060021G>A | CA402695085 | RTTN | c.4769C>T (p.Pro1590Leu) c.856C>T (p.His286Tyr) n.2315C>T c.2168C>T (p.Pro723Leu) c.2121C>T (n.2121C>T) c.*3083C>T (n.*3083C>T) c.4050C>T (n.4050C>T) c.2033C>T (p.Pro678Leu) c.4772C>T (p.Pro1591Leu) c.4532C>T (p.Pro1511Leu) c.4343C>T (p.Pro1448Leu) c.3272C>T (p.Pro1091Leu) c.*50C>T (n.*50C>T) n.4810C>T c.4529C>T (p.Pro1510Leu) c.4130C>T (p.Pro1377Leu) c.3707C>T (p.Pro1236Leu) c.2663C>T (p.Pro888Leu) c.3992C>T (p.Pro1331Leu) n.4840C>T | |
18 | g.70060021G>C | CA402695087 | RTTN | c.4769C>G (p.Pro1590Arg) c.856C>G (p.His286Asp) n.2315C>G c.2168C>G (p.Pro723Arg) c.2121C>G (n.2121C>G) c.*3083C>G (n.*3083C>G) c.4050C>G (n.4050C>G) c.2033C>G (p.Pro678Arg) c.4772C>G (p.Pro1591Arg) c.4532C>G (p.Pro1511Arg) c.4343C>G (p.Pro1448Arg) c.3272C>G (p.Pro1091Arg) c.*50C>G (n.*50C>G) n.4810C>G c.4529C>G (p.Pro1510Arg) c.4130C>G (p.Pro1377Arg) c.3707C>G (p.Pro1236Arg) c.2663C>G (p.Pro888Arg) c.3992C>G (p.Pro1331Arg) n.4840C>G | gnomAD v4 |
18 | g.70060021G>T | CA402695089 | RTTN | c.4769C>A (p.Pro1590Gln) c.856C>A (p.His286Asn) n.2315C>A c.2168C>A (p.Pro723Gln) c.2121C>A (n.2121C>A) c.*3083C>A (n.*3083C>A) c.4050C>A (n.4050C>A) c.2033C>A (p.Pro678Gln) c.4772C>A (p.Pro1591Gln) c.4532C>A (p.Pro1511Gln) c.4343C>A (p.Pro1448Gln) c.3272C>A (p.Pro1091Gln) c.*50C>A (n.*50C>A) n.4810C>A c.4529C>A (p.Pro1510Gln) c.4130C>A (p.Pro1377Gln) c.3707C>A (p.Pro1236Gln) c.2663C>A (p.Pro888Gln) c.3992C>A (p.Pro1331Gln) n.4840C>A | |
18 | g.70060022G>A | CA402695090 | RTTN | c.4768C>T (p.Pro1590Ser) c.855C>T (p.His285=) n.2314C>T c.2167C>T (p.Pro723Ser) c.2120C>T (n.2120C>T) c.*3082C>T (n.*3082C>T) c.4049C>T (n.4049C>T) c.2032C>T (p.Pro678Ser) c.4771C>T (p.Pro1591Ser) c.4531C>T (p.Pro1511Ser) c.4342C>T (p.Pro1448Ser) c.3271C>T (p.Pro1091Ser) c.*49C>T (n.*49C>T) n.4809C>T c.4528C>T (p.Pro1510Ser) c.4129C>T (p.Pro1377Ser) c.3706C>T (p.Pro1236Ser) c.2662C>T (p.Pro888Ser) c.3991C>T (p.Pro1331Ser) n.4839C>T | COSMIC |
18 | g.70060022G>C | CA402695092 | RTTN | c.4768C>G (p.Pro1590Ala) c.855C>G (p.His285Gln) n.2314C>G c.2167C>G (p.Pro723Ala) c.2120C>G (n.2120C>G) c.*3082C>G (n.*3082C>G) c.4049C>G (n.4049C>G) c.2032C>G (p.Pro678Ala) c.4771C>G (p.Pro1591Ala) c.4531C>G (p.Pro1511Ala) c.4342C>G (p.Pro1448Ala) c.3271C>G (p.Pro1091Ala) c.*49C>G (n.*49C>G) n.4809C>G c.4528C>G (p.Pro1510Ala) c.4129C>G (p.Pro1377Ala) c.3706C>G (p.Pro1236Ala) c.2662C>G (p.Pro888Ala) c.3991C>G (p.Pro1331Ala) n.4839C>G | |
18 | g.70060022G>T | CA402695093 | RTTN | c.4768C>A (p.Pro1590Thr) c.855C>A (p.His285Gln) n.2314C>A c.2167C>A (p.Pro723Thr) c.2120C>A (n.2120C>A) c.*3082C>A (n.*3082C>A) c.4049C>A (n.4049C>A) c.2032C>A (p.Pro678Thr) c.4771C>A (p.Pro1591Thr) c.4531C>A (p.Pro1511Thr) c.4342C>A (p.Pro1448Thr) c.3271C>A (p.Pro1091Thr) c.*49C>A (n.*49C>A) n.4809C>A c.4528C>A (p.Pro1510Thr) c.4129C>A (p.Pro1377Thr) c.3706C>A (p.Pro1236Thr) c.2662C>A (p.Pro888Thr) c.3991C>A (p.Pro1331Thr) n.4839C>A | |
18 | g.70060023T>A | CA504323550 | RTTN | c.4767A>T (p.Ser1589=) c.854A>T (p.His285Leu) n.2313A>T c.2166A>T (p.Ser722=) c.2119A>T (n.2119A>T) c.*3081A>T (n.*3081A>T) c.4048A>T (n.4048A>T) c.2031A>T (p.Ser677=) c.4770A>T (p.Ser1590=) c.4530A>T (p.Ser1510=) c.4341A>T (p.Ser1447=) c.3270A>T (p.Ser1090=) c.*48A>T (n.*48A>T) n.4808A>T c.4527A>T (p.Ser1509=) c.4128A>T (p.Ser1376=) c.3705A>T (p.Ser1235=) c.2661A>T (p.Ser887=) c.3990A>T (p.Ser1330=) n.4838A>T | |
18 | g.70060023T>C | CA504323551 | RTTN | c.4767A>G (p.Ser1589=) c.854A>G (p.His285Arg) n.2313A>G c.2166A>G (p.Ser722=) c.2119A>G (n.2119A>G) c.*3081A>G (n.*3081A>G) c.4048A>G (n.4048A>G) c.2031A>G (p.Ser677=) c.4770A>G (p.Ser1590=) c.4530A>G (p.Ser1510=) c.4341A>G (p.Ser1447=) c.3270A>G (p.Ser1090=) c.*48A>G (n.*48A>G) n.4808A>G c.4527A>G (p.Ser1509=) c.4128A>G (p.Ser1376=) c.3705A>G (p.Ser1235=) c.2661A>G (p.Ser887=) c.3990A>G (p.Ser1330=) n.4838A>G | |
18 | g.70060023T>G | CA8995124 | RTTN | c.4767A>C (p.Ser1589=) c.854A>C (p.His285Pro) n.2313A>C c.2166A>C (p.Ser722=) c.2119A>C (n.2119A>C) c.*3081A>C (n.*3081A>C) c.4048A>C (n.4048A>C) c.2031A>C (p.Ser677=) c.4770A>C (p.Ser1590=) c.4530A>C (p.Ser1510=) c.4341A>C (p.Ser1447=) c.3270A>C (p.Ser1090=) c.*48A>C (n.*48A>C) n.4808A>C c.4527A>C (p.Ser1509=) c.4128A>C (p.Ser1376=) c.3705A>C (p.Ser1235=) c.2661A>C (p.Ser887=) c.3990A>C (p.Ser1330=) n.4838A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.70060023T= | CA2311957334 | RTTN | c.4767A= (p.Ser1589=) c.854A= (p.His285=) n.2313A= c.2166A= (p.Ser722=) c.2119A= (n.2119A=) c.*3081A= (n.*3081A=) c.4048A= (n.4048A=) c.2031A= (p.Ser677=) c.4770A= (p.Ser1590=) c.4530A= (p.Ser1510=) c.4341A= (p.Ser1447=) c.3270A= (p.Ser1090=) c.*48A= (n.*48A=) n.4808A= c.4527A= (p.Ser1509=) c.4128A= (p.Ser1376=) c.3705A= (p.Ser1235=) c.2661A= (p.Ser887=) c.3990A= (p.Ser1330=) n.4838A= | |
18 | g.70060024G>A | CA8995125 | RTTN | c.4766C>T (p.Ser1589Leu) c.853C>T (p.His285Tyr) n.2312C>T c.2165C>T (p.Ser722Leu) c.2118C>T (n.2118C>T) c.*3080C>T (n.*3080C>T) c.4047C>T (n.4047C>T) c.2030C>T (p.Ser677Leu) c.4769C>T (p.Ser1590Leu) c.4529C>T (p.Ser1510Leu) c.4340C>T (p.Ser1447Leu) c.3269C>T (p.Ser1090Leu) c.*47C>T (n.*47C>T) n.4807C>T c.4526C>T (p.Ser1509Leu) c.4127C>T (p.Ser1376Leu) c.3704C>T (p.Ser1235Leu) c.2660C>T (p.Ser887Leu) c.3989C>T (p.Ser1330Leu) n.4837C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.70060024G>C | CA402695099 | RTTN | c.4766C>G (p.Ser1589Ter) c.853C>G (p.His285Asp) n.2312C>G c.2165C>G (p.Ser722Ter) c.2118C>G (n.2118C>G) c.*3080C>G (n.*3080C>G) c.4047C>G (n.4047C>G) c.2030C>G (p.Ser677Ter) c.4769C>G (p.Ser1590Ter) c.4529C>G (p.Ser1510Ter) c.4340C>G (p.Ser1447Ter) c.3269C>G (p.Ser1090Ter) c.*47C>G (n.*47C>G) n.4807C>G c.4526C>G (p.Ser1509Ter) c.4127C>G (p.Ser1376Ter) c.3704C>G (p.Ser1235Ter) c.2660C>G (p.Ser887Ter) c.3989C>G (p.Ser1330Ter) n.4837C>G | |
18 | g.70060024G= | CA2311957335 | RTTN | c.4766C= (p.Ser1589=) c.853C= (p.His285=) n.2312C= c.2165C= (p.Ser722=) c.2118C= (n.2118C=) c.*3080C= (n.*3080C=) c.4047C= (n.4047C=) c.2030C= (p.Ser677=) c.4769C= (p.Ser1590=) c.4529C= (p.Ser1510=) c.4340C= (p.Ser1447=) c.3269C= (p.Ser1090=) c.*47C= (n.*47C=) n.4807C= c.4526C= (p.Ser1509=) c.4127C= (p.Ser1376=) c.3704C= (p.Ser1235=) c.2660C= (p.Ser887=) c.3989C= (p.Ser1330=) n.4837C= | |
18 | g.70060024G>T | CA402695096 | RTTN | c.4766C>A (p.Ser1589Ter) c.853C>A (p.His285Asn) n.2312C>A c.2165C>A (p.Ser722Ter) c.2118C>A (n.2118C>A) c.*3080C>A (n.*3080C>A) c.4047C>A (n.4047C>A) c.2030C>A (p.Ser677Ter) c.4769C>A (p.Ser1590Ter) c.4529C>A (p.Ser1510Ter) c.4340C>A (p.Ser1447Ter) c.3269C>A (p.Ser1090Ter) c.*47C>A (n.*47C>A) n.4807C>A c.4526C>A (p.Ser1509Ter) c.4127C>A (p.Ser1376Ter) c.3704C>A (p.Ser1235Ter) c.2660C>A (p.Ser887Ter) c.3989C>A (p.Ser1330Ter) n.4837C>A |