Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.70059922_70059933delCA2576524749RTTNc.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
18g.70059923T>ACA402694583RTTNc.4867A>T (p.Asn1623Tyr)
c.954A>T (p.Thr318=)
n.2413A>T
c.21A>T
c.2266A>T (p.Asn756Tyr)
c.2219A>T (n.2219A>T)
c.*3181A>T (n.*3181A>T)
c.4148A>T (n.4148A>T)
c.2131A>T (p.Asn711Tyr)
c.4870A>T (p.Asn1624Tyr)
c.4630A>T (p.Asn1544Tyr)
c.4441A>T (p.Asn1481Tyr)
c.3370A>T (p.Asn1124Tyr)
n.4908A>T
c.4627A>T (p.Asn1543Tyr)
c.4228A>T (p.Asn1410Tyr)
c.3805A>T (p.Asn1269Tyr)
c.2761A>T (p.Asn921Tyr)
c.4090A>T (p.Asn1364Tyr)
n.4938A>T
18g.70059923T>CCA402694585RTTNc.4867A>G (p.Asn1623Asp)
c.954A>G (p.Thr318=)
n.2413A>G
c.21A>G
c.2266A>G (p.Asn756Asp)
c.2219A>G (n.2219A>G)
c.*3181A>G (n.*3181A>G)
c.4148A>G (n.4148A>G)
c.2131A>G (p.Asn711Asp)
c.4870A>G (p.Asn1624Asp)
c.4630A>G (p.Asn1544Asp)
c.4441A>G (p.Asn1481Asp)
c.3370A>G (p.Asn1124Asp)
n.4908A>G
c.4627A>G (p.Asn1543Asp)
c.4228A>G (p.Asn1410Asp)
c.3805A>G (p.Asn1269Asp)
c.2761A>G (p.Asn921Asp)
c.4090A>G (p.Asn1364Asp)
n.4938A>G
18g.70059923T>GCA402694587RTTNc.4867A>C (p.Asn1623His)
c.954A>C (p.Thr318=)
n.2413A>C
c.21A>C
c.2266A>C (p.Asn756His)
c.2219A>C (n.2219A>C)
c.*3181A>C (n.*3181A>C)
c.4148A>C (n.4148A>C)
c.2131A>C (p.Asn711His)
c.4870A>C (p.Asn1624His)
c.4630A>C (p.Asn1544His)
c.4441A>C (p.Asn1481His)
c.3370A>C (p.Asn1124His)
n.4908A>C
c.4627A>C (p.Asn1543His)
c.4228A>C (p.Asn1410His)
c.3805A>C (p.Asn1269His)
c.2761A>C (p.Asn921His)
c.4090A>C (p.Asn1364His)
n.4938A>C
18g.70059924G>ACA504323417RTTNc.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
18g.70059924G>CCA402694590RTTNc.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
18g.70059924G>TCA402694592RTTNc.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
18g.70059925T>ACA402694594RTTNc.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
18g.70059925T>CCA402694596RTTNc.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
18g.70059925T>GCA402694599RTTNc.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
18g.70059926C>ACA402694606RTTNc.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
18g.70059926C=CA2311957292RTTNc.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=
18g.70059926C>GCA402694603RTTNc.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
18g.70059926C>TCA10603915RTTNc.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
18g.70059927C>ACA402694609RTTNc.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
18g.70059927C>GCA402694611RTTNc.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
18g.70059927C>TCA504323420RTTNc.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
18g.70059928A>CCA402694614RTTNc.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
18g.70059928A>GCA402694616RTTNc.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
18g.70059928A>TCA402694618RTTNc.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
18g.70059929A>CCA402694622RTTNc.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
18g.70059929A>GCA504323421RTTNc.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
18g.70059929A>TCA402694624RTTNc.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
18g.70059930G>ACA504323422RTTNc.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
18g.70059930G>CCA504323423RTTNc.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
18g.70059930G>TCA504323424RTTNc.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
18g.70059931A>CCA402694628RTTNc.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
18g.70059931A>GCA402694630RTTNc.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
18g.70059931A>TCA402694633RTTNc.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
18g.70059932G>ACA402694639RTTNc.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
18g.70059932G>CCA402694641RTTNc.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
18g.70059932G>TCA402694643RTTNc.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
18g.70059933G>ACA504323425RTTNc.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
18g.70059933G>CCA402694647RTTNc.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
18g.70059933G=CA2311957293RTTNc.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=
18g.70059933G>TCA402694645RTTNc.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
18g.70059934C>ACA402694651RTTNc.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
18g.70059934C=CA2311957294RTTNc.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=
18g.70059934C>GCA402694656RTTNc.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
18g.70059934C>TCA402694654RTTNc.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
18g.70059935T>ACA402694658RTTNc.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
18g.70059935T>CCA301946477RTTNc.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
18g.70059935T>GCA402694661RTTNc.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
18g.70059935T=CA2311957295RTTNc.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=
18g.70059936G>ACA504323426RTTNc.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
18g.70059936G>CCA402694663RTTNc.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
18g.70059936G>TCA402694666RTTNc.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
18g.70059937C>ACA402694668RTTNc.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
18g.70059937C=CA2311957296RTTNc.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=
18g.70059937C>GCA402694671RTTNc.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
18g.70059937C>TCA402694673RTTNc.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
18g.70059938A>CCA402694676RTTNc.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
18g.70059938A>GCA402694679RTTNc.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
18g.70059938A>TCA402694680RTTNc.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
18g.70059939C>ACA402694687RTTNc.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
18g.70059939C>GCA402694685RTTNc.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
18g.70059939C>TCA402694683RTTNc.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
18g.70059940A=CA2311957297RTTNc.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=
18g.70059940A>CCA402694691RTTNc.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
18g.70059940A>GCA155008RTTNc.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
18g.70059940A>TCA402694694RTTNc.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
18g.70059941T>ACA402694696RTTNc.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
18g.70059941T>CCA402694699RTTNc.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
18g.70059941T>GCA402694702RTTNc.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
18g.70059942T>ACA504323428RTTNc.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
18g.70059942T>CCA504323429RTTNc.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
18g.70059942T>GCA504323427RTTNc.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
18g.70059943G>ACA402694704RTTNc.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
18g.70059943G>CCA402694707RTTNc.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
18g.70059943G>TCA402694711RTTNc.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
18g.70059944C>ACA402694714RTTNc.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
18g.70059944C=CA2311957298RTTNc.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=
18g.70059944C>GCA402694716RTTNc.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
18g.70059944C>TCA402694718RTTNc.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
18g.70059945T>ACA504323430RTTNc.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
18g.70059945T>CCA504323431RTTNc.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
18g.70059945T>GCA504323432RTTNc.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
18g.70059946G>ACA402694724RTTNc.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
18g.70059946G>CCA8995116RTTNc.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
18g.70059946G=CA2311957299RTTNc.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=
18g.70059946G>TCA402694720RTTNc.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
18g.70059947A>CCA402694725RTTNc.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
18g.70059947A>GCA402694728RTTNc.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
18g.70059947A>TCA402694726RTTNc.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
18g.70059948A>CCA504323433RTTNc.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
18g.70059948A>GCA504323434RTTNc.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
18g.70059948A>TCA504323435RTTNc.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
18g.70059949A=CA2311957300RTTNc.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=
18g.70059949A>CCA402694731RTTNc.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
18g.70059949A>GCA8995117RTTNc.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
18g.70059949A>TCA402694734RTTNc.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
18g.70059950G>ACA402694740RTTNc.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
18g.70059950G>CCA402694744RTTNc.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
18g.70059950G>TCA402694745RTTNc.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
18g.70059951A>CCA504323436RTTNc.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
18g.70059951A>GCA504323437RTTNc.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
18g.70059951A>TCA504323438RTTNc.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
18g.70059952A>CCA402694747RTTNc.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
18g.70059952A>GCA402694748RTTNc.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
18g.70059952A>TCA402694750RTTNc.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
18g.70059953G>ACA301946521RTTNc.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
18g.70059953G>CCA402694755RTTNc.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
18g.70059953G=CA2311957301RTTNc.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=
18g.70059953G>TCA402694758RTTNc.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
18g.70059954A=CA2311957302RTTNc.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=
18g.70059954A>CCA504323439RTTNc.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
18g.70059954A>GCA8995118RTTNc.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
18g.70059954A>TCA504323440RTTNc.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
18g.70059955G>ACA402694764RTTNc.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
18g.70059955G>CCA402694761RTTNc.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
18g.70059955G>TCA402694762RTTNc.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
18g.70059956A>CCA402694768RTTNc.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
18g.70059956A>GCA402694771RTTNc.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
18g.70059956A>TCA402694774RTTNc.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
18g.70059957T>ACA504323441RTTNc.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
18g.70059957T>CCA504323442RTTNc.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
18g.70059957T>GCA504323443RTTNc.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
18g.70059957T=CA2311957303RTTNc.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=
18g.70059958G>ACA402694776RTTNc.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
18g.70059958G>CCA402694779RTTNc.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
18g.70059958G=CA2311957304RTTNc.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=
18g.70059958G>TCA402694781RTTNc.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
18g.70059959G>ACA402694784RTTNc.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
18g.70059959G>CCA402694785RTTNc.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
18g.70059959G=CA2311957305RTTNc.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=
18g.70059959G>TCA402694788RTTNc.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
18g.70059960A=CA2311957306RTTNc.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=
18g.70059960A>CCA504323446RTTNc.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
18g.70059960A>GCA8995119RTTNc.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
18g.70059960A>TCA504323447RTTNc.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
18g.70059961G>ACA402694793RTTNc.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
18g.70059961G>CCA402694795RTTNc.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
18g.70059961G>TCA402694791RTTNc.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
18g.70059962T>ACA402694797RTTNc.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
18g.70059962T>CCA402694799RTTNc.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
18g.70059962T>GCA402694801RTTNc.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
18g.70059963A>CCA504323450RTTNc.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
18g.70059963A>GCA504323451RTTNc.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
18g.70059963A>TCA504323449RTTNc.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
18g.70059964A=CA2311957307RTTNc.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=
18g.70059964A>CCA8995120RTTNc.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
18g.70059964A>GCA402694805RTTNc.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
18g.70059964A>TCA402694808RTTNc.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
18g.70059965C>ACA402694811RTTNc.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
18g.70059965C=CA2311957308RTTNc.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=
18g.70059965C>GCA402694813RTTNc.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
18g.70059965C>TCA402694815RTTNc.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
18g.70059966A>CCA402694818RTTNc.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
18g.70059966A>GCA504323453RTTNc.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
18g.70059966A>TCA402694821RTTNc.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
18g.70059970dupCA2311957309RTTNc.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
18g.70059967A>CCA402694824RTTNc.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
18g.70059967A>GCA402694825RTTNc.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
18g.70059967A>TCA402694823RTTNc.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
18g.70059968A>CCA402694826RTTNc.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
18g.70059968A>GCA402694827RTTNc.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
18g.70059968A>TCA402694829RTTNc.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
18g.70059969A>CCA504323456RTTNc.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
18g.70059969A>GCA504323457RTTNc.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
18g.70059969A>TCA504323458RTTNc.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
18g.70059969_70059971delinsAACCA2311957310RTTNc.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
18g.70059970A>CCA402694830RTTNc.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
18g.70059970A>GCA402694832RTTNc.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
18g.70059970A>TCA402694834RTTNc.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
18g.70059975_70059976delCA630873152RTTNc.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
18g.70059971C>ACA402694836RTTNc.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
18g.70059971C>GCA402694839RTTNc.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
18g.70059971C>TCA402694838RTTNc.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
18g.70059972A>CCA402694841RTTNc.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
18g.70059972A>GCA504323459RTTNc.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
18g.70059972A>TCA402694844RTTNc.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
18g.70059973C>ACA402694848RTTNc.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
18g.70059973C>GCA402694850RTTNc.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
18g.70059973C>TCA402694855RTTNc.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
18g.70059974A=CA2311957311RTTNc.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=
18g.70059974A>CCA402694861RTTNc.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
18g.70059974A>GCA402694862RTTNc.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
18g.70059974A>TCA402694859RTTNc.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
18g.70059975C>ACA504323462RTTNc.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
18g.70059975C>GCA504323463RTTNc.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
18g.70059975C>TCA504323464RTTNc.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
18g.70059976A=CA2311957312RTTNc.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=
18g.70059976A>CCA402694863RTTNc.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
18g.70059976A>GCA402694864RTTNc.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
18g.70059976A>TCA402694865RTTNc.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
18g.70059977G>ACA504323468RTTNc.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
18g.70059977G>CCA402694866RTTNc.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
18g.70059977G=CA2311957313RTTNc.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=
18g.70059977G>TCA402694869RTTNc.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
18g.70059978T>ACA402694871RTTNc.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
18g.70059978T>CCA504323469RTTNc.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
18g.70059978T>GCA402694874RTTNc.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
18g.70059979T>ACA402694878RTTNc.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
18g.70059979T>CCA402694881RTTNc.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
18g.70059979T>GCA402694884RTTNc.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
18g.70059979T=CA2311957314RTTNc.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=
18g.70059980T>ACA402694889RTTNc.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
18g.70059980T>CCA402694891RTTNc.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
18g.70059980T>GCA402694892RTTNc.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
18g.70059980T=CA2311957315RTTNc.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=
18g.70059981G>ACA504323473RTTNc.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
18g.70059981G>CCA504323474RTTNc.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
18g.70059981G>TCA504323475RTTNc.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
18g.70059982G>ACA402694905RTTNc.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
18g.70059982G>CCA402694899RTTNc.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
18g.70059982G=CA2311957316RTTNc.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=
18g.70059982G>TCA402694896RTTNc.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
18g.70059983G>ACA402694907RTTNc.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
18g.70059983G>CCA402694909RTTNc.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
18g.70059983G>TCA402694910RTTNc.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
18g.70059984C>ACA504323479RTTNc.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
18g.70059984C=CA2311957317RTTNc.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=
18g.70059984C>GCA504323483RTTNc.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
18g.70059984C>TCA504323480RTTNc.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
18g.70059985A>CCA402694914RTTNc.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
18g.70059985A>GCA402694923RTTNc.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
18g.70059985A>TCA402694925RTTNc.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
18g.70059986G>ACA504323485RTTNc.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
18g.70059986G>CCA402694928RTTNc.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
18g.70059986G>TCA402694930RTTNc.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
18g.70059987G>ACA504323486RTTNc.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
18g.70059987G>CCA504323488RTTNc.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
18g.70059987G=CA2311957318RTTNc.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=
18g.70059987G>TCA504323489RTTNc.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
18g.70059988G>ACA402694933RTTNc.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
18g.70059988G>CCA402694934RTTNc.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
18g.70059988G=CA2311957319RTTNc.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=
18g.70059988G>TCA402694937RTTNc.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
18g.70059989G>ACA301946544RTTNc.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
18g.70059989G>CCA402694942RTTNc.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
18g.70059989G=CA2311957320RTTNc.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=
18g.70059989G>TCA402694944RTTNc.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
18g.70059990A>CCA504323490RTTNc.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
18g.70059990A>GCA504323491RTTNc.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
18g.70059990A>TCA504323492RTTNc.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
18g.70059991G>ACA402694949RTTNc.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
18g.70059991G>CCA402694952RTTNc.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
18g.70059991G=CA2311957321RTTNc.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=
18g.70059991G>TCA402694947RTTNc.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
18g.70059992C>ACA402694955RTTNc.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
18g.70059992C>GCA402694959RTTNc.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
18g.70059992C>TCA402694960RTTNc.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
18g.70059993A>CCA504323500RTTNc.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
18g.70059993A>GCA504323501RTTNc.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
18g.70059993A>TCA504323502RTTNc.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
18g.70059994G>ACA402694962RTTNc.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
18g.70059994G>CCA402694967RTTNc.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
18g.70059994G>TCA402694970RTTNc.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
18g.70059995A>CCA402694973RTTNc.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
18g.70059995A>GCA402694976RTTNc.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
18g.70059995A>TCA402694978RTTNc.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
18g.70059996A>CCA504323503RTTNc.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
18g.70059996A>GCA504323504RTTNc.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
18g.70059996A>TCA504323506RTTNc.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
18g.70059997A>CCA402694982RTTNc.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
18g.70059997A>GCA402694984RTTNc.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
18g.70059997A>TCA402694986RTTNc.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
18g.70059998G>ACA402694990RTTNc.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
18g.70059998G>CCA402694991RTTNc.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
18g.70059998G>TCA402694988RTTNc.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
18g.70059999A>CCA504323509RTTNc.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
18g.70059999A>GCA504323510RTTNc.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
18g.70059999A>TCA504323511RTTNc.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
18g.70060000G>ACA402694992RTTNc.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
18g.70060000G>CCA402694994RTTNc.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
18g.70060000G>TCA402694996RTTNc.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
18g.70060001A=CA2311957322RTTNc.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=
18g.70060001A>CCA402694997RTTNc.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
18g.70060001A>GCA402694999RTTNc.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
18g.70060001A>TCA402695001RTTNc.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
18g.70060002T>ACA504323513RTTNc.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
18g.70060002T>CCA504323514RTTNc.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
18g.70060002T>GCA504323515RTTNc.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
18g.70060003G>ACA402695003RTTNc.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
18g.70060003G>CCA402695008RTTNc.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
18g.70060003G>TCA402695005RTTNc.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
18g.70060004A>CCA402695011RTTNc.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
18g.70060004A>GCA402695021RTTNc.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
18g.70060004A>TCA402695024RTTNc.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
18g.70060005A=CA2311957323RTTNc.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=
18g.70060005A>CCA402695026RTTNc.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
18g.70060005A>GCA504323518RTTNc.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
18g.70060005A>TCA402695029RTTNc.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
18g.70060006T>ACA402695036RTTNc.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
18g.70060006T>CCA402695034RTTNc.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
18g.70060006T>GCA402695032RTTNc.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
18g.70060006_70060007insACTCA630873160RTTNc.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
18g.70060007C>ACA402695044RTTNc.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
18g.70060007C>GCA402695038RTTNc.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
18g.70060007C>TCA402695046RTTNc.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
18g.70060008A=CA2311957324RTTNc.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=
18g.70060008A>CCA402695047RTTNc.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
18g.70060008A>GCA504323523RTTNc.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
18g.70060008A>TCA402695050RTTNc.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
18g.70060009T>ACA402695054RTTNc.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
18g.70060009T>CCA402695057RTTNc.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
18g.70060009T>GCA402695055RTTNc.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
18g.70060009T=CA2311957325RTTNc.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=
18g.70060009_70060010insAGACA920014660RTTNc.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
18g.70060010G>ACA402695059RTTNc.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
18g.70060010G>CCA402695062RTTNc.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
18g.70060010G>TCA402695060RTTNc.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
18g.70060011A=CA2311957326RTTNc.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=
18g.70060011A>CCA504323525RTTNc.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
18g.70060011A>GCA504323529RTTNc.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
18g.70060011A>TCA504323528RTTNc.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
18g.70060012G>ACA402695064RTTNc.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
18g.70060012G>CCA402695065RTTNc.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
18g.70060012G>TCA402695066RTTNc.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
18g.70060013G>ACA402695067RTTNc.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
18g.70060013G>CCA402695069RTTNc.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
18g.70060013G=CA2311957327RTTNc.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=
18g.70060013G>TCA402695071RTTNc.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
18g.70060014T>ACA504323531RTTNc.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
18g.70060014T>CCA504323532RTTNc.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
18g.70060014T>GCA504323533RTTNc.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
18g.70060015G>ACA402695073RTTNc.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
18g.70060015G>CCA402695075RTTNc.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
18g.70060015G>TCA402695077RTTNc.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
18g.70060016G>ACA8995121RTTNc.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
18g.70060016G>CCA402695078RTTNc.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
18g.70060016G=CA2311957328RTTNc.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=
18g.70060016G>TCA402695080RTTNc.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
18g.70060016_70060041delinsGCCGTGGTGATGTACTTTCCTGGTGACA2311957329RTTNc.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
18g.70060017C>ACA504323536RTTNc.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
18g.70060017C>GCA504323537RTTNc.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
18g.70060017C>TCA504323538RTTNc.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
18g.70060019_70060043delCA2311957330RTTNc.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
18g.70060018C>ACA402695081RTTNc.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
18g.70060018C=CA2311957331RTTNc.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=
18g.70060018C>GCA402695082RTTNc.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
18g.70060018C>TCA8995122RTTNc.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
18g.70060019G>ACA8995123RTTNc.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
18g.70060019G>CCA402695084RTTNc.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
18g.70060019G=CA2311957332RTTNc.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=
18g.70060019G>TCA504323543RTTNc.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
18g.70060020T>ACA504323544RTTNc.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
18g.70060020T>CCA504323545RTTNc.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
18g.70060020T>GCA504323546RTTNc.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
18g.70060020T=CA2311957333RTTNc.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=
18g.70060021G>ACA402695085RTTNc.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
18g.70060021G>CCA402695087RTTNc.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
18g.70060021G>TCA402695089RTTNc.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
18g.70060022G>ACA402695090RTTNc.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
18g.70060022G>CCA402695092RTTNc.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
18g.70060022G>TCA402695093RTTNc.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
18g.70060023T>ACA504323550RTTNc.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
18g.70060023T>CCA504323551RTTNc.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
18g.70060023T>GCA8995124RTTNc.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
18g.70060023T=CA2311957334RTTNc.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=

Number of alleles fetched