Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.48167501C>ACA395803841ABCC11c.4051G>T (p.Gly1351Trp)
c.3937G>T (p.Gly1313Trp)
n.1351G>T
c.3853G>T (p.Gly1285Trp)
c.3094G>T (p.Gly1032Trp)
c.2182G>T (p.Gly728Trp)
c.3943G>T (p.Gly1315Trp)
n.6729G>T
c.4057G>T (p.Gly1353Trp)
16g.48167501C>GCA395803839ABCC11c.4051G>C (p.Gly1351Arg)
c.3937G>C (p.Gly1313Arg)
n.1351G>C
c.3853G>C (p.Gly1285Arg)
c.3094G>C (p.Gly1032Arg)
c.2182G>C (p.Gly728Arg)
c.3943G>C (p.Gly1315Arg)
n.6729G>C
c.4057G>C (p.Gly1353Arg)
16g.48167501C>TCA395803836ABCC11c.4051G>A (p.Gly1351Arg)
c.3937G>A (p.Gly1313Arg)
n.1351G>A
c.3853G>A (p.Gly1285Arg)
c.3094G>A (p.Gly1032Arg)
c.2182G>A (p.Gly728Arg)
c.3943G>A (p.Gly1315Arg)
n.6729G>A
c.4057G>A (p.Gly1353Arg)
16g.48167502A>CCA395803843ABCC11c.4050T>G (p.Asn1350Lys)
c.3936T>G (p.Asn1312Lys)
n.1350T>G
c.3852T>G (p.Asn1284Lys)
c.3093T>G (p.Asn1031Lys)
c.2181T>G (p.Asn727Lys)
c.3942T>G (p.Asn1314Lys)
n.6728T>G
c.4056T>G (p.Asn1352Lys)
16g.48167502A>GCA495442597ABCC11c.4050T>C (p.Asn1350=)
c.3936T>C (p.Asn1312=)
n.1350T>C
c.3852T>C (p.Asn1284=)
c.3093T>C (p.Asn1031=)
c.2181T>C (p.Asn727=)
c.3942T>C (p.Asn1314=)
n.6728T>C
c.4056T>C (p.Asn1352=)
16g.48167502A>TCA395803846ABCC11c.4050T>A (p.Asn1350Lys)
c.3936T>A (p.Asn1312Lys)
n.1350T>A
c.3852T>A (p.Asn1284Lys)
c.3093T>A (p.Asn1031Lys)
c.2181T>A (p.Asn727Lys)
c.3942T>A (p.Asn1314Lys)
n.6728T>A
c.4056T>A (p.Asn1352Lys)
16g.48167503T>ACA395803850ABCC11c.4049A>T (p.Asn1350Ile)
c.3935A>T (p.Asn1312Ile)
n.1349A>T
c.3851A>T (p.Asn1284Ile)
c.3092A>T (p.Asn1031Ile)
c.2180A>T (p.Asn727Ile)
c.3941A>T (p.Asn1314Ile)
n.6727A>T
c.4055A>T (p.Asn1352Ile)
16g.48167503T>CCA395803853ABCC11c.4049A>G (p.Asn1350Ser)
c.3935A>G (p.Asn1312Ser)
n.1349A>G
c.3851A>G (p.Asn1284Ser)
c.3092A>G (p.Asn1031Ser)
c.2180A>G (p.Asn727Ser)
c.3941A>G (p.Asn1314Ser)
n.6727A>G
c.4055A>G (p.Asn1352Ser)
 dbSNP gnomAD v2 gnomAD v4
16g.48167503T>GCA395803860ABCC11c.4049A>C (p.Asn1350Thr)
c.3935A>C (p.Asn1312Thr)
n.1349A>C
c.3851A>C (p.Asn1284Thr)
c.3092A>C (p.Asn1031Thr)
c.2180A>C (p.Asn727Thr)
c.3941A>C (p.Asn1314Thr)
n.6727A>C
c.4055A>C (p.Asn1352Thr)
16g.48167503T=CA2220652231ABCC11c.4049A= (p.Asn1350=)
c.3935A= (p.Asn1312=)
n.1349A=
c.3851A= (p.Asn1284=)
c.3092A= (p.Asn1031=)
c.2180A= (p.Asn727=)
c.3941A= (p.Asn1314=)
n.6727A=
c.4055A= (p.Asn1352=)
16g.48167504T>ACA395803864ABCC11c.4048A>T (p.Asn1350Tyr)
c.3934A>T (p.Asn1312Tyr)
n.1348A>T
c.3850A>T (p.Asn1284Tyr)
c.3091A>T (p.Asn1031Tyr)
c.2179A>T (p.Asn727Tyr)
c.3940A>T (p.Asn1314Tyr)
n.6726A>T
c.4054A>T (p.Asn1352Tyr)
16g.48167504T>CCA395803866ABCC11c.4048A>G (p.Asn1350Asp)
c.3934A>G (p.Asn1312Asp)
n.1348A>G
c.3850A>G (p.Asn1284Asp)
c.3091A>G (p.Asn1031Asp)
c.2179A>G (p.Asn727Asp)
c.3940A>G (p.Asn1314Asp)
n.6726A>G
c.4054A>G (p.Asn1352Asp)
16g.48167504T>GCA395803870ABCC11c.4048A>C (p.Asn1350His)
c.3934A>C (p.Asn1312His)
n.1348A>C
c.3850A>C (p.Asn1284His)
c.3091A>C (p.Asn1031His)
c.2179A>C (p.Asn727His)
c.3940A>C (p.Asn1314His)
n.6726A>C
c.4054A>C (p.Asn1352His)
16g.48167505G>ACA495442598ABCC11c.4047C>T (p.Gly1349=)
c.3933C>T (p.Gly1311=)
n.1347C>T
c.3849C>T (p.Gly1283=)
c.3090C>T (p.Gly1030=)
c.2178C>T (p.Gly726=)
c.3939C>T (p.Gly1313=)
n.6725C>T
c.4053C>T (p.Gly1351=)
 dbSNP
16g.48167505G>CCA495442600ABCC11c.4047C>G (p.Gly1349=)
c.3933C>G (p.Gly1311=)
n.1347C>G
c.3849C>G (p.Gly1283=)
c.3090C>G (p.Gly1030=)
c.2178C>G (p.Gly726=)
c.3939C>G (p.Gly1313=)
n.6725C>G
c.4053C>G (p.Gly1351=)
16g.48167505G>TCA495442601ABCC11c.4047C>A (p.Gly1349=)
c.3933C>A (p.Gly1311=)
n.1347C>A
c.3849C>A (p.Gly1283=)
c.3090C>A (p.Gly1030=)
c.2178C>A (p.Gly726=)
c.3939C>A (p.Gly1313=)
n.6725C>A
c.4053C>A (p.Gly1351=)
 COSMIC
16g.48167506C>ACA395803874ABCC11c.4046G>T (p.Gly1349Val)
c.3932G>T (p.Gly1311Val)
n.1346G>T
c.3848G>T (p.Gly1283Val)
c.3089G>T (p.Gly1030Val)
c.2177G>T (p.Gly726Val)
c.3938G>T (p.Gly1313Val)
n.6724G>T
c.4052G>T (p.Gly1351Val)
16g.48167506C>GCA395803876ABCC11c.4046G>C (p.Gly1349Ala)
c.3932G>C (p.Gly1311Ala)
n.1346G>C
c.3848G>C (p.Gly1283Ala)
c.3089G>C (p.Gly1030Ala)
c.2177G>C (p.Gly726Ala)
c.3938G>C (p.Gly1313Ala)
n.6724G>C
c.4052G>C (p.Gly1351Ala)
16g.48167506C>TCA395803879ABCC11c.4046G>A (p.Gly1349Asp)
c.3932G>A (p.Gly1311Asp)
n.1346G>A
c.3848G>A (p.Gly1283Asp)
c.3089G>A (p.Gly1030Asp)
c.2177G>A (p.Gly726Asp)
c.3938G>A (p.Gly1313Asp)
n.6724G>A
c.4052G>A (p.Gly1351Asp)
 dbSNP
16g.48167507C>ACA395803889ABCC11c.4045G>T (p.Gly1349Cys)
c.3931G>T (p.Gly1311Cys)
n.1345G>T
c.3847G>T (p.Gly1283Cys)
c.3088G>T (p.Gly1030Cys)
c.2176G>T (p.Gly726Cys)
c.3937G>T (p.Gly1313Cys)
n.6723G>T
c.4051G>T (p.Gly1351Cys)
16g.48167507C>GCA395803892ABCC11c.4045G>C (p.Gly1349Arg)
c.3931G>C (p.Gly1311Arg)
n.1345G>C
c.3847G>C (p.Gly1283Arg)
c.3088G>C (p.Gly1030Arg)
c.2176G>C (p.Gly726Arg)
c.3937G>C (p.Gly1313Arg)
n.6723G>C
c.4051G>C (p.Gly1351Arg)
16g.48167507C>TCA395803895ABCC11c.4045G>A (p.Gly1349Ser)
c.3931G>A (p.Gly1311Ser)
n.1345G>A
c.3847G>A (p.Gly1283Ser)
c.3088G>A (p.Gly1030Ser)
c.2176G>A (p.Gly726Ser)
c.3937G>A (p.Gly1313Ser)
n.6723G>A
c.4051G>A (p.Gly1351Ser)
 dbSNP
16g.48167508C>ACA395803904ABCC11c.4044G>T (p.Met1348Ile)
c.3930G>T (p.Met1310Ile)
n.1344G>T
c.3846G>T (p.Met1282Ile)
c.3087G>T (p.Met1029Ile)
c.2175G>T (p.Met725Ile)
c.3936G>T (p.Met1312Ile)
n.6722G>T
c.4050G>T (p.Met1350Ile)
16g.48167508C>GCA395803901ABCC11c.4044G>C (p.Met1348Ile)
c.3930G>C (p.Met1310Ile)
n.1344G>C
c.3846G>C (p.Met1282Ile)
c.3087G>C (p.Met1029Ile)
c.2175G>C (p.Met725Ile)
c.3936G>C (p.Met1312Ile)
n.6722G>C
c.4050G>C (p.Met1350Ile)
16g.48167508C>TCA395803898ABCC11c.4044G>A (p.Met1348Ile)
c.3930G>A (p.Met1310Ile)
n.1344G>A
c.3846G>A (p.Met1282Ile)
c.3087G>A (p.Met1029Ile)
c.2175G>A (p.Met725Ile)
c.3936G>A (p.Met1312Ile)
n.6722G>A
c.4050G>A (p.Met1350Ile)
 gnomAD v4
16g.48167509A>CCA395803909ABCC11c.4043T>G (p.Met1348Arg)
c.3929T>G (p.Met1310Arg)
n.1343T>G
c.3845T>G (p.Met1282Arg)
c.3086T>G (p.Met1029Arg)
c.2174T>G (p.Met725Arg)
c.3935T>G (p.Met1312Arg)
n.6721T>G
c.4049T>G (p.Met1350Arg)
16g.48167509A>GCA395803910ABCC11c.4043T>C (p.Met1348Thr)
c.3929T>C (p.Met1310Thr)
n.1343T>C
c.3845T>C (p.Met1282Thr)
c.3086T>C (p.Met1029Thr)
c.2174T>C (p.Met725Thr)
c.3935T>C (p.Met1312Thr)
n.6721T>C
c.4049T>C (p.Met1350Thr)
16g.48167509A>TCA395803913ABCC11c.4043T>A (p.Met1348Lys)
c.3929T>A (p.Met1310Lys)
n.1343T>A
c.3845T>A (p.Met1282Lys)
c.3086T>A (p.Met1029Lys)
c.2174T>A (p.Met725Lys)
c.3935T>A (p.Met1312Lys)
n.6721T>A
c.4049T>A (p.Met1350Lys)
16g.48167510T>ACA395803918ABCC11c.4042A>T (p.Met1348Leu)
c.3928A>T (p.Met1310Leu)
n.1342A>T
c.3844A>T (p.Met1282Leu)
c.3085A>T (p.Met1029Leu)
c.2173A>T (p.Met725Leu)
c.3934A>T (p.Met1312Leu)
n.6720A>T
c.4048A>T (p.Met1350Leu)
16g.48167510T>CCA395803920ABCC11c.4042A>G (p.Met1348Val)
c.3928A>G (p.Met1310Val)
n.1342A>G
c.3844A>G (p.Met1282Val)
c.3085A>G (p.Met1029Val)
c.2173A>G (p.Met725Val)
c.3934A>G (p.Met1312Val)
n.6720A>G
c.4048A>G (p.Met1350Val)
16g.48167510T>GCA395803923ABCC11c.4042A>C (p.Met1348Leu)
c.3928A>C (p.Met1310Leu)
n.1342A>C
c.3844A>C (p.Met1282Leu)
c.3085A>C (p.Met1029Leu)
c.2173A>C (p.Met725Leu)
c.3934A>C (p.Met1312Leu)
n.6720A>C
c.4048A>C (p.Met1350Leu)
16g.48167510_48167511delinsTACA2220652239ABCC11c.4041_4042delinsTA (p.Val1347=)
c.3927_3928delinsTA (p.Val1309=)
n.1341_1342delinsTA
c.3843_3844delinsTA (p.Val1281=)
c.3084_3085delinsTA (p.Val1028=)
c.2172_2173delinsTA (p.Val724=)
c.3933_3934delinsTA (p.Val1311=)
n.6719_6720delinsTA
c.4047_4048delinsTA (p.Val1349=)
16g.48167511A>CCA495442606ABCC11c.4041T>G (p.Val1347=)
c.3927T>G (p.Val1309=)
n.1341T>G
c.3843T>G (p.Val1281=)
c.3084T>G (p.Val1028=)
c.2172T>G (p.Val724=)
c.3933T>G (p.Val1311=)
n.6719T>G
c.4047T>G (p.Val1349=)
16g.48167511A>GCA495442608ABCC11c.4041T>C (p.Val1347=)
c.3927T>C (p.Val1309=)
n.1341T>C
c.3843T>C (p.Val1281=)
c.3084T>C (p.Val1028=)
c.2172T>C (p.Val724=)
c.3933T>C (p.Val1311=)
n.6719T>C
c.4047T>C (p.Val1349=)
16g.48167511A>TCA495442609ABCC11c.4041T>A (p.Val1347=)
c.3927T>A (p.Val1309=)
n.1341T>A
c.3843T>A (p.Val1281=)
c.3084T>A (p.Val1028=)
c.2172T>A (p.Val724=)
c.3933T>A (p.Val1311=)
n.6719T>A
c.4047T>A (p.Val1349=)
16g.48167512delCA2220652246ABCC11c.4041del (p.Met1348TrpfsTer7)
c.3927del (p.Met1310TrpfsTer7)
n.1341del
c.3843del (p.Met1282TrpfsTer7)
c.3084del (p.Met1029TrpfsTer7)
c.2172del (p.Met725TrpfsTer7)
c.3933del (p.Met1312TrpfsTer7)
n.6719del
c.4047del (p.Met1350TrpfsTer7)
 dbSNP
16g.48167512A=CA2220652251ABCC11c.4040T= (p.Val1347=)
c.3926T= (p.Val1309=)
n.1340T=
c.3842T= (p.Val1281=)
c.3083T= (p.Val1028=)
c.2171T= (p.Val724=)
c.3932T= (p.Val1311=)
n.6718T=
c.4046T= (p.Val1349=)
16g.48167512A>CCA395803927ABCC11c.4040T>G (p.Val1347Gly)
c.3926T>G (p.Val1309Gly)
n.1340T>G
c.3842T>G (p.Val1281Gly)
c.3083T>G (p.Val1028Gly)
c.2171T>G (p.Val724Gly)
c.3932T>G (p.Val1311Gly)
n.6718T>G
c.4046T>G (p.Val1349Gly)
16g.48167512A>GCA395803930ABCC11c.4040T>C (p.Val1347Ala)
c.3926T>C (p.Val1309Ala)
n.1340T>C
c.3842T>C (p.Val1281Ala)
c.3083T>C (p.Val1028Ala)
c.2171T>C (p.Val724Ala)
c.3932T>C (p.Val1311Ala)
n.6718T>C
c.4046T>C (p.Val1349Ala)
 dbSNP
16g.48167512A>TCA395803931ABCC11c.4040T>A (p.Val1347Asp)
c.3926T>A (p.Val1309Asp)
n.1340T>A
c.3842T>A (p.Val1281Asp)
c.3083T>A (p.Val1028Asp)
c.2171T>A (p.Val724Asp)
c.3932T>A (p.Val1311Asp)
n.6718T>A
c.4046T>A (p.Val1349Asp)
16g.48167513C>ACA395803934ABCC11c.4039G>T (p.Val1347Phe)
c.3925G>T (p.Val1309Phe)
n.1339G>T
c.3841G>T (p.Val1281Phe)
c.3082G>T (p.Val1028Phe)
c.2170G>T (p.Val724Phe)
c.3931G>T (p.Val1311Phe)
n.6717G>T
c.4045G>T (p.Val1349Phe)
16g.48167513C>GCA395803937ABCC11c.4039G>C (p.Val1347Leu)
c.3925G>C (p.Val1309Leu)
n.1339G>C
c.3841G>C (p.Val1281Leu)
c.3082G>C (p.Val1028Leu)
c.2170G>C (p.Val724Leu)
c.3931G>C (p.Val1311Leu)
n.6717G>C
c.4045G>C (p.Val1349Leu)
16g.48167513C>TCA395803941ABCC11c.4039G>A (p.Val1347Ile)
c.3925G>A (p.Val1309Ile)
n.1339G>A
c.3841G>A (p.Val1281Ile)
c.3082G>A (p.Val1028Ile)
c.2170G>A (p.Val724Ile)
c.3931G>A (p.Val1311Ile)
n.6717G>A
c.4045G>A (p.Val1349Ile)
 gnomAD v4 COSMIC
16g.48167514C>ACA495442613ABCC11c.4038G>T (p.Leu1346=)
c.3924G>T (p.Leu1308=)
n.1338G>T
c.3840G>T (p.Leu1280=)
c.3081G>T (p.Leu1027=)
c.2169G>T (p.Leu723=)
c.3930G>T (p.Leu1310=)
n.6716G>T
c.4044G>T (p.Leu1348=)
16g.48167514C>GCA495442614ABCC11c.4038G>C (p.Leu1346=)
c.3924G>C (p.Leu1308=)
n.1338G>C
c.3840G>C (p.Leu1280=)
c.3081G>C (p.Leu1027=)
c.2169G>C (p.Leu723=)
c.3930G>C (p.Leu1310=)
n.6716G>C
c.4044G>C (p.Leu1348=)
16g.48167514C>TCA495442615ABCC11c.4038G>A (p.Leu1346=)
c.3924G>A (p.Leu1308=)
n.1338G>A
c.3840G>A (p.Leu1280=)
c.3081G>A (p.Leu1027=)
c.2169G>A (p.Leu723=)
c.3930G>A (p.Leu1310=)
n.6716G>A
c.4044G>A (p.Leu1348=)
16g.48167515A>CCA395803950ABCC11c.4037T>G (p.Leu1346Arg)
c.3923T>G (p.Leu1308Arg)
n.1337T>G
c.3839T>G (p.Leu1280Arg)
c.3080T>G (p.Leu1027Arg)
c.2168T>G (p.Leu723Arg)
c.3929T>G (p.Leu1310Arg)
n.6715T>G
c.4043T>G (p.Leu1348Arg)
16g.48167515A>GCA395803947ABCC11c.4037T>C (p.Leu1346Pro)
c.3923T>C (p.Leu1308Pro)
n.1337T>C
c.3839T>C (p.Leu1280Pro)
c.3080T>C (p.Leu1027Pro)
c.2168T>C (p.Leu723Pro)
c.3929T>C (p.Leu1310Pro)
n.6715T>C
c.4043T>C (p.Leu1348Pro)
 gnomAD v4
16g.48167515A>TCA395803944ABCC11c.4037T>A (p.Leu1346Gln)
c.3923T>A (p.Leu1308Gln)
n.1337T>A
c.3839T>A (p.Leu1280Gln)
c.3080T>A (p.Leu1027Gln)
c.2168T>A (p.Leu723Gln)
c.3929T>A (p.Leu1310Gln)
n.6715T>A
c.4043T>A (p.Leu1348Gln)
16g.48167516G>ACA495442617ABCC11c.4036C>T (p.Leu1346=)
c.3922C>T (p.Leu1308=)
n.1336C>T
c.3838C>T (p.Leu1280=)
c.3079C>T (p.Leu1027=)
c.2167C>T (p.Leu723=)
c.3928C>T (p.Leu1310=)
n.6714C>T
c.4042C>T (p.Leu1348=)
16g.48167516G>CCA395803953ABCC11c.4036C>G (p.Leu1346Val)
c.3922C>G (p.Leu1308Val)
n.1336C>G
c.3838C>G (p.Leu1280Val)
c.3079C>G (p.Leu1027Val)
c.2167C>G (p.Leu723Val)
c.3928C>G (p.Leu1310Val)
n.6714C>G
c.4042C>G (p.Leu1348Val)
16g.48167516G>TCA395803955ABCC11c.4036C>A (p.Leu1346Met)
c.3922C>A (p.Leu1308Met)
n.1336C>A
c.3838C>A (p.Leu1280Met)
c.3079C>A (p.Leu1027Met)
c.2167C>A (p.Leu723Met)
c.3928C>A (p.Leu1310Met)
n.6714C>A
c.4042C>A (p.Leu1348Met)
16g.48167517G>ACA495442618ABCC11c.4035C>T (p.Ile1345=)
c.3921C>T (p.Ile1307=)
n.1335C>T
c.3837C>T (p.Ile1279=)
c.3078C>T (p.Ile1026=)
c.2166C>T (p.Ile722=)
c.3927C>T (p.Ile1309=)
n.6713C>T
c.4041C>T (p.Ile1347=)
16g.48167517G>CCA395803959ABCC11c.4035C>G (p.Ile1345Met)
c.3921C>G (p.Ile1307Met)
n.1335C>G
c.3837C>G (p.Ile1279Met)
c.3078C>G (p.Ile1026Met)
c.2166C>G (p.Ile722Met)
c.3927C>G (p.Ile1309Met)
n.6713C>G
c.4041C>G (p.Ile1347Met)
 dbSNP
16g.48167517G>TCA495442619ABCC11c.4035C>A (p.Ile1345=)
c.3921C>A (p.Ile1307=)
n.1335C>A
c.3837C>A (p.Ile1279=)
c.3078C>A (p.Ile1026=)
c.2166C>A (p.Ile722=)
c.3927C>A (p.Ile1309=)
n.6713C>A
c.4041C>A (p.Ile1347=)
16g.48167518A=CA2220652255ABCC11c.4034T= (p.Ile1345=)
c.3920T= (p.Ile1307=)
n.1334T=
c.3836T= (p.Ile1279=)
c.3077T= (p.Ile1026=)
c.2165T= (p.Ile722=)
c.3926T= (p.Ile1309=)
n.6712T=
c.4040T= (p.Ile1347=)
16g.48167518A>CCA395803962ABCC11c.4034T>G (p.Ile1345Ser)
c.3920T>G (p.Ile1307Ser)
n.1334T>G
c.3836T>G (p.Ile1279Ser)
c.3077T>G (p.Ile1026Ser)
c.2165T>G (p.Ile722Ser)
c.3926T>G (p.Ile1309Ser)
n.6712T>G
c.4040T>G (p.Ile1347Ser)
16g.48167518A>GCA8042943ABCC11c.4034T>C (p.Ile1345Thr)
c.3920T>C (p.Ile1307Thr)
n.1334T>C
c.3836T>C (p.Ile1279Thr)
c.3077T>C (p.Ile1026Thr)
c.2165T>C (p.Ile722Thr)
c.3926T>C (p.Ile1309Thr)
n.6712T>C
c.4040T>C (p.Ile1347Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.48167518A>TCA395803968ABCC11c.4034T>A (p.Ile1345Asn)
c.3920T>A (p.Ile1307Asn)
n.1334T>A
c.3836T>A (p.Ile1279Asn)
c.3077T>A (p.Ile1026Asn)
c.2165T>A (p.Ile722Asn)
c.3926T>A (p.Ile1309Asn)
n.6712T>A
c.4040T>A (p.Ile1347Asn)
16g.48167519T>ACA395803977ABCC11c.4033A>T (p.Ile1345Phe)
c.3919A>T (p.Ile1307Phe)
n.1333A>T
c.3835A>T (p.Ile1279Phe)
c.3076A>T (p.Ile1026Phe)
c.2164A>T (p.Ile722Phe)
c.3925A>T (p.Ile1309Phe)
n.6711A>T
c.4039A>T (p.Ile1347Phe)
16g.48167519T>CCA395803972ABCC11c.4033A>G (p.Ile1345Val)
c.3919A>G (p.Ile1307Val)
n.1333A>G
c.3835A>G (p.Ile1279Val)
c.3076A>G (p.Ile1026Val)
c.2164A>G (p.Ile722Val)
c.3925A>G (p.Ile1309Val)
n.6711A>G
c.4039A>G (p.Ile1347Val)
16g.48167519T>GCA395803975ABCC11c.4033A>C (p.Ile1345Leu)
c.3919A>C (p.Ile1307Leu)
n.1333A>C
c.3835A>C (p.Ile1279Leu)
c.3076A>C (p.Ile1026Leu)
c.2164A>C (p.Ile722Leu)
c.3925A>C (p.Ile1309Leu)
n.6711A>C
c.4039A>C (p.Ile1347Leu)
16g.48167520G>ACA495442621ABCC11c.4032C>T (p.His1344=)
c.3918C>T (p.His1306=)
n.1332C>T
c.3834C>T (p.His1278=)
c.3075C>T (p.His1025=)
c.2163C>T (p.His721=)
c.3924C>T (p.His1308=)
n.6710C>T
c.4038C>T (p.His1346=)
 gnomAD v4
16g.48167520G>CCA395803979ABCC11c.4032C>G (p.His1344Gln)
c.3918C>G (p.His1306Gln)
n.1332C>G
c.3834C>G (p.His1278Gln)
c.3075C>G (p.His1025Gln)
c.2163C>G (p.His721Gln)
c.3924C>G (p.His1308Gln)
n.6710C>G
c.4038C>G (p.His1346Gln)
 dbSNP
16g.48167520G>TCA395803984ABCC11c.4032C>A (p.His1344Gln)
c.3918C>A (p.His1306Gln)
n.1332C>A
c.3834C>A (p.His1278Gln)
c.3075C>A (p.His1025Gln)
c.2163C>A (p.His721Gln)
c.3924C>A (p.His1308Gln)
n.6710C>A
c.4038C>A (p.His1346Gln)
16g.48167521T>ACA395803987ABCC11c.4031A>T (p.His1344Leu)
c.3917A>T (p.His1306Leu)
n.1331A>T
c.3833A>T (p.His1278Leu)
c.3074A>T (p.His1025Leu)
c.2162A>T (p.His721Leu)
c.3923A>T (p.His1308Leu)
n.6709A>T
c.4037A>T (p.His1346Leu)
 gnomAD v4
16g.48167521T>CCA8042944ABCC11c.4031A>G (p.His1344Arg)
c.3917A>G (p.His1306Arg)
n.1331A>G
c.3833A>G (p.His1278Arg)
c.3074A>G (p.His1025Arg)
c.2162A>G (p.His721Arg)
c.3923A>G (p.His1308Arg)
n.6709A>G
c.4037A>G (p.His1346Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.48167521T>GCA395803992ABCC11c.4031A>C (p.His1344Pro)
c.3917A>C (p.His1306Pro)
n.1331A>C
c.3833A>C (p.His1278Pro)
c.3074A>C (p.His1025Pro)
c.2162A>C (p.His721Pro)
c.3923A>C (p.His1308Pro)
n.6709A>C
c.4037A>C (p.His1346Pro)
16g.48167521T=CA2220652264ABCC11c.4031A= (p.His1344=)
c.3917A= (p.His1306=)
n.1331A=
c.3833A= (p.His1278=)
c.3074A= (p.His1025=)
c.2162A= (p.His721=)
c.3923A= (p.His1308=)
n.6709A=
c.4037A= (p.His1346=)
16g.48167522G>ACA8042945ABCC11c.4030C>T (p.His1344Tyr)
c.3916C>T (p.His1306Tyr)
n.1330C>T
c.3832C>T (p.His1278Tyr)
c.3073C>T (p.His1025Tyr)
c.2161C>T (p.His721Tyr)
c.3922C>T (p.His1308Tyr)
n.6708C>T
c.4036C>T (p.His1346Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.48167522G>CCA395804002ABCC11c.4030C>G (p.His1344Asp)
c.3916C>G (p.His1306Asp)
n.1330C>G
c.3832C>G (p.His1278Asp)
c.3073C>G (p.His1025Asp)
c.2161C>G (p.His721Asp)
c.3922C>G (p.His1308Asp)
n.6708C>G
c.4036C>G (p.His1346Asp)
16g.48167522G=CA2220652274ABCC11c.4030C= (p.His1344=)
c.3916C= (p.His1306=)
n.1330C=
c.3832C= (p.His1278=)
c.3073C= (p.His1025=)
c.2161C= (p.His721=)
c.3922C= (p.His1308=)
n.6708C=
c.4036C= (p.His1346=)
16g.48167522G>TCA395803998ABCC11c.4030C>A (p.His1344Asn)
c.3916C>A (p.His1306Asn)
n.1330C>A
c.3832C>A (p.His1278Asn)
c.3073C>A (p.His1025Asn)
c.2161C>A (p.His721Asn)
c.3922C>A (p.His1308Asn)
n.6708C>A
c.4036C>A (p.His1346Asn)
16g.48167523G>ACA495442623ABCC11c.4029C>T (p.Asp1343=)
c.3915C>T (p.Asp1305=)
n.1329C>T
c.3831C>T (p.Asp1277=)
c.3072C>T (p.Asp1024=)
c.2160C>T (p.Asp720=)
c.3921C>T (p.Asp1307=)
n.6707C>T
c.4035C>T (p.Asp1345=)
16g.48167523G>CCA395804005ABCC11c.4029C>G (p.Asp1343Glu)
c.3915C>G (p.Asp1305Glu)
n.1329C>G
c.3831C>G (p.Asp1277Glu)
c.3072C>G (p.Asp1024Glu)
c.2160C>G (p.Asp720Glu)
c.3921C>G (p.Asp1307Glu)
n.6707C>G
c.4035C>G (p.Asp1345Glu)
16g.48167523G>TCA395804008ABCC11c.4029C>A (p.Asp1343Glu)
c.3915C>A (p.Asp1305Glu)
n.1329C>A
c.3831C>A (p.Asp1277Glu)
c.3072C>A (p.Asp1024Glu)
c.2160C>A (p.Asp720Glu)
c.3921C>A (p.Asp1307Glu)
n.6707C>A
c.4035C>A (p.Asp1345Glu)
16g.48167524T>ACA395804011ABCC11c.4028A>T (p.Asp1343Val)
c.3914A>T (p.Asp1305Val)
n.1328A>T
c.3830A>T (p.Asp1277Val)
c.3071A>T (p.Asp1024Val)
c.2159A>T (p.Asp720Val)
c.3920A>T (p.Asp1307Val)
n.6706A>T
c.4034A>T (p.Asp1345Val)
 dbSNP
16g.48167524T>CCA395804014ABCC11c.4028A>G (p.Asp1343Gly)
c.3914A>G (p.Asp1305Gly)
n.1328A>G
c.3830A>G (p.Asp1277Gly)
c.3071A>G (p.Asp1024Gly)
c.2159A>G (p.Asp720Gly)
c.3920A>G (p.Asp1307Gly)
n.6706A>G
c.4034A>G (p.Asp1345Gly)
16g.48167524T>GCA395804019ABCC11c.4028A>C (p.Asp1343Ala)
c.3914A>C (p.Asp1305Ala)
n.1328A>C
c.3830A>C (p.Asp1277Ala)
c.3071A>C (p.Asp1024Ala)
c.2159A>C (p.Asp720Ala)
c.3920A>C (p.Asp1307Ala)
n.6706A>C
c.4034A>C (p.Asp1345Ala)
16g.48167525C>ACA395804031ABCC11c.4027G>T (p.Asp1343Tyr)
c.3913G>T (p.Asp1305Tyr)
n.1327G>T
c.3829G>T (p.Asp1277Tyr)
c.3070G>T (p.Asp1024Tyr)
c.2158G>T (p.Asp720Tyr)
c.3919G>T (p.Asp1307Tyr)
n.6705G>T
c.4033G>T (p.Asp1345Tyr)
16g.48167525C=CA2220652292ABCC11c.4027G= (p.Asp1343=)
c.3913G= (p.Asp1305=)
n.1327G=
c.3829G= (p.Asp1277=)
c.3070G= (p.Asp1024=)
c.2158G= (p.Asp720=)
c.3919G= (p.Asp1307=)
n.6705G=
c.4033G= (p.Asp1345=)
16g.48167525C>GCA395804034ABCC11c.4027G>C (p.Asp1343His)
c.3913G>C (p.Asp1305His)
n.1327G>C
c.3829G>C (p.Asp1277His)
c.3070G>C (p.Asp1024His)
c.2158G>C (p.Asp720His)
c.3919G>C (p.Asp1307His)
n.6705G>C
c.4033G>C (p.Asp1345His)
16g.48167525C>TCA8042946ABCC11c.4027G>A (p.Asp1343Asn)
c.3913G>A (p.Asp1305Asn)
n.1327G>A
c.3829G>A (p.Asp1277Asn)
c.3070G>A (p.Asp1024Asn)
c.2158G>A (p.Asp720Asn)
c.3919G>A (p.Asp1307Asn)
n.6705G>A
c.4033G>A (p.Asp1345Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.48167526A>CCA395804040ABCC11c.4026T>G (p.Cys1342Trp)
c.3912T>G (p.Cys1304Trp)
n.1326T>G
c.3828T>G (p.Cys1276Trp)
c.3069T>G (p.Cys1023Trp)
c.2157T>G (p.Cys719Trp)
c.3918T>G (p.Cys1306Trp)
n.6704T>G
c.4032T>G (p.Cys1344Trp)
16g.48167526A>GCA495442626ABCC11c.4026T>C (p.Cys1342=)
c.3912T>C (p.Cys1304=)
n.1326T>C
c.3828T>C (p.Cys1276=)
c.3069T>C (p.Cys1023=)
c.2157T>C (p.Cys719=)
c.3918T>C (p.Cys1306=)
n.6704T>C
c.4032T>C (p.Cys1344=)
 COSMIC
16g.48167526A>TCA395804041ABCC11c.4026T>A (p.Cys1342Ter)
c.3912T>A (p.Cys1304Ter)
n.1326T>A
c.3828T>A (p.Cys1276Ter)
c.3069T>A (p.Cys1023Ter)
c.2157T>A (p.Cys719Ter)
c.3918T>A (p.Cys1306Ter)
n.6704T>A
c.4032T>A (p.Cys1344Ter)
16g.48167527C>ACA395804042ABCC11c.4025G>T (p.Cys1342Phe)
c.3911G>T (p.Cys1304Phe)
n.1325G>T
c.3827G>T (p.Cys1276Phe)
c.3068G>T (p.Cys1023Phe)
c.2156G>T (p.Cys719Phe)
c.3917G>T (p.Cys1306Phe)
n.6703G>T
c.4031G>T (p.Cys1344Phe)
16g.48167527C=CA2220652297ABCC11c.4025G= (p.Cys1342=)
c.3911G= (p.Cys1304=)
n.1325G=
c.3827G= (p.Cys1276=)
c.3068G= (p.Cys1023=)
c.2156G= (p.Cys719=)
c.3917G= (p.Cys1306=)
n.6703G=
c.4031G= (p.Cys1344=)
16g.48167527C>GCA395804044ABCC11c.4025G>C (p.Cys1342Ser)
c.3911G>C (p.Cys1304Ser)
n.1325G>C
c.3827G>C (p.Cys1276Ser)
c.3068G>C (p.Cys1023Ser)
c.2156G>C (p.Cys719Ser)
c.3917G>C (p.Cys1306Ser)
n.6703G>C
c.4031G>C (p.Cys1344Ser)
16g.48167527C>TCA395804043ABCC11c.4025G>A (p.Cys1342Tyr)
c.3911G>A (p.Cys1304Tyr)
n.1325G>A
c.3827G>A (p.Cys1276Tyr)
c.3068G>A (p.Cys1023Tyr)
c.2156G>A (p.Cys719Tyr)
c.3917G>A (p.Cys1306Tyr)
n.6703G>A
c.4031G>A (p.Cys1344Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.48167527_48167528delinsCACA2220652303ABCC11c.4024_4025delinsTG (p.Cys1342=)
c.3910_3911delinsTG (p.Cys1304=)
n.1324_1325delinsTG
c.3826_3827delinsTG (p.Cys1276=)
c.3067_3068delinsTG (p.Cys1023=)
c.2155_2156delinsTG (p.Cys719=)
c.3916_3917delinsTG (p.Cys1306=)
n.6702_6703delinsTG
c.4030_4031delinsTG (p.Cys1344=)
16g.48167528delCA2220652310ABCC11c.4024del (p.Cys1342ValfsTer13)
c.3910del (p.Cys1304ValfsTer13)
n.1324del
c.3826del (p.Cys1276ValfsTer13)
c.3067del (p.Cys1023ValfsTer13)
c.2155del (p.Cys719ValfsTer13)
c.3916del (p.Cys1306ValfsTer13)
n.6702del
c.4030del (p.Cys1344ValfsTer13)
 dbSNP
16g.48167528A>CCA395804047ABCC11c.4024T>G (p.Cys1342Gly)
c.3910T>G (p.Cys1304Gly)
n.1324T>G
c.3826T>G (p.Cys1276Gly)
c.3067T>G (p.Cys1023Gly)
c.2155T>G (p.Cys719Gly)
c.3916T>G (p.Cys1306Gly)
n.6702T>G
c.4030T>G (p.Cys1344Gly)
16g.48167528A>GCA395804054ABCC11c.4024T>C (p.Cys1342Arg)
c.3910T>C (p.Cys1304Arg)
n.1324T>C
c.3826T>C (p.Cys1276Arg)
c.3067T>C (p.Cys1023Arg)
c.2155T>C (p.Cys719Arg)
c.3916T>C (p.Cys1306Arg)
n.6702T>C
c.4030T>C (p.Cys1344Arg)
 gnomAD v4
16g.48167528A>TCA395804051ABCC11c.4024T>A (p.Cys1342Ser)
c.3910T>A (p.Cys1304Ser)
n.1324T>A
c.3826T>A (p.Cys1276Ser)
c.3067T>A (p.Cys1023Ser)
c.2155T>A (p.Cys719Ser)
c.3916T>A (p.Cys1306Ser)
n.6702T>A
c.4030T>A (p.Cys1344Ser)
16g.48167529G>ACA495442627ABCC11c.4023C>T (p.Asn1341=)
c.3909C>T (p.Asn1303=)
n.1323C>T
c.3825C>T (p.Asn1275=)
c.3066C>T (p.Asn1022=)
c.2154C>T (p.Asn718=)
c.3915C>T (p.Asn1305=)
n.6701C>T
c.4029C>T (p.Asn1343=)
 dbSNP COSMIC
16g.48167529G>CCA8042947ABCC11c.4023C>G (p.Asn1341Lys)
c.3909C>G (p.Asn1303Lys)
n.1323C>G
c.3825C>G (p.Asn1275Lys)
c.3066C>G (p.Asn1022Lys)
c.2154C>G (p.Asn718Lys)
c.3915C>G (p.Asn1305Lys)
n.6701C>G
c.4029C>G (p.Asn1343Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.48167529G=CA2220652315ABCC11c.4023C= (p.Asn1341=)
c.3909C= (p.Asn1303=)
n.1323C=
c.3825C= (p.Asn1275=)
c.3066C= (p.Asn1022=)
c.2154C= (p.Asn718=)
c.3915C= (p.Asn1305=)
n.6701C=
c.4029C= (p.Asn1343=)
16g.48167529G>TCA395804056ABCC11c.4023C>A (p.Asn1341Lys)
c.3909C>A (p.Asn1303Lys)
n.1323C>A
c.3825C>A (p.Asn1275Lys)
c.3066C>A (p.Asn1022Lys)
c.2154C>A (p.Asn718Lys)
c.3915C>A (p.Asn1305Lys)
n.6701C>A
c.4029C>A (p.Asn1343Lys)
16g.48167530T>ACA395804064ABCC11c.4022A>T (p.Asn1341Ile)
c.3908A>T (p.Asn1303Ile)
n.1322A>T
c.3824A>T (p.Asn1275Ile)
c.3065A>T (p.Asn1022Ile)
c.2153A>T (p.Asn718Ile)
c.3914A>T (p.Asn1305Ile)
n.6700A>T
c.4028A>T (p.Asn1343Ile)
16g.48167530T>CCA395804069ABCC11c.4022A>G (p.Asn1341Ser)
c.3908A>G (p.Asn1303Ser)
n.1322A>G
c.3824A>G (p.Asn1275Ser)
c.3065A>G (p.Asn1022Ser)
c.2153A>G (p.Asn718Ser)
c.3914A>G (p.Asn1305Ser)
n.6700A>G
c.4028A>G (p.Asn1343Ser)
 dbSNP gnomAD v3 gnomAD v4
16g.48167530T>GCA395804065ABCC11c.4022A>C (p.Asn1341Thr)
c.3908A>C (p.Asn1303Thr)
n.1322A>C
c.3824A>C (p.Asn1275Thr)
c.3065A>C (p.Asn1022Thr)
c.2153A>C (p.Asn718Thr)
c.3914A>C (p.Asn1305Thr)
n.6700A>C
c.4028A>C (p.Asn1343Thr)
16g.48167530T=CA2220652317ABCC11c.4022A= (p.Asn1341=)
c.3908A= (p.Asn1303=)
n.1322A=
c.3824A= (p.Asn1275=)
c.3065A= (p.Asn1022=)
c.2153A= (p.Asn718=)
c.3914A= (p.Asn1305=)
n.6700A=
c.4028A= (p.Asn1343=)
16g.48167531T>ACA395804072ABCC11c.4021A>T (p.Asn1341Tyr)
c.3907A>T (p.Asn1303Tyr)
n.1321A>T
c.3823A>T (p.Asn1275Tyr)
c.3064A>T (p.Asn1022Tyr)
c.2152A>T (p.Asn718Tyr)
c.3913A>T (p.Asn1305Tyr)
n.6699A>T
c.4027A>T (p.Asn1343Tyr)
16g.48167531T>CCA395804076ABCC11c.4021A>G (p.Asn1341Asp)
c.3907A>G (p.Asn1303Asp)
n.1321A>G
c.3823A>G (p.Asn1275Asp)
c.3064A>G (p.Asn1022Asp)
c.2152A>G (p.Asn718Asp)
c.3913A>G (p.Asn1305Asp)
n.6699A>G
c.4027A>G (p.Asn1343Asp)
16g.48167531T>GCA395804073ABCC11c.4021A>C (p.Asn1341His)
c.3907A>C (p.Asn1303His)
n.1321A>C
c.3823A>C (p.Asn1275His)
c.3064A>C (p.Asn1022His)
c.2152A>C (p.Asn718His)
c.3913A>C (p.Asn1305His)
n.6699A>C
c.4027A>C (p.Asn1343His)
16g.48167532C>ACA495442628ABCC11c.4020G>T (p.Leu1340=)
c.3906G>T (p.Leu1302=)
n.1320G>T
c.3822G>T (p.Leu1274=)
c.3063G>T (p.Leu1021=)
c.2151G>T (p.Leu717=)
c.3912G>T (p.Leu1304=)
n.6698G>T
c.4026G>T (p.Leu1342=)
16g.48167532C>GCA495442629ABCC11c.4020G>C (p.Leu1340=)
c.3906G>C (p.Leu1302=)
n.1320G>C
c.3822G>C (p.Leu1274=)
c.3063G>C (p.Leu1021=)
c.2151G>C (p.Leu717=)
c.3912G>C (p.Leu1304=)
n.6698G>C
c.4026G>C (p.Leu1342=)
16g.48167532C>TCA495442630ABCC11c.4020G>A (p.Leu1340=)
c.3906G>A (p.Leu1302=)
n.1320G>A
c.3822G>A (p.Leu1274=)
c.3063G>A (p.Leu1021=)
c.2151G>A (p.Leu717=)
c.3912G>A (p.Leu1304=)
n.6698G>A
c.4026G>A (p.Leu1342=)
16g.48167533A>CCA395804080ABCC11c.4019T>G (p.Leu1340Arg)
c.3905T>G (p.Leu1302Arg)
n.1319T>G
c.3821T>G (p.Leu1274Arg)
c.3062T>G (p.Leu1021Arg)
c.2150T>G (p.Leu717Arg)
c.3911T>G (p.Leu1304Arg)
n.6697T>G
c.4025T>G (p.Leu1342Arg)
16g.48167533A>GCA395804082ABCC11c.4019T>C (p.Leu1340Pro)
c.3905T>C (p.Leu1302Pro)
n.1319T>C
c.3821T>C (p.Leu1274Pro)
c.3062T>C (p.Leu1021Pro)
c.2150T>C (p.Leu717Pro)
c.3911T>C (p.Leu1304Pro)
n.6697T>C
c.4025T>C (p.Leu1342Pro)
16g.48167533A>TCA395804086ABCC11c.4019T>A (p.Leu1340Gln)
c.3905T>A (p.Leu1302Gln)
n.1319T>A
c.3821T>A (p.Leu1274Gln)
c.3062T>A (p.Leu1021Gln)
c.2150T>A (p.Leu717Gln)
c.3911T>A (p.Leu1304Gln)
n.6697T>A
c.4025T>A (p.Leu1342Gln)
16g.48167534G>ACA495442631ABCC11c.4018C>T (p.Leu1340=)
c.3904C>T (p.Leu1302=)
n.1318C>T
c.3820C>T (p.Leu1274=)
c.3061C>T (p.Leu1021=)
c.2149C>T (p.Leu717=)
c.3910C>T (p.Leu1304=)
n.6696C>T
c.4024C>T (p.Leu1342=)
 dbSNP
16g.48167534G>CCA395804089ABCC11c.4018C>G (p.Leu1340Val)
c.3904C>G (p.Leu1302Val)
n.1318C>G
c.3820C>G (p.Leu1274Val)
c.3061C>G (p.Leu1021Val)
c.2149C>G (p.Leu717Val)
c.3910C>G (p.Leu1304Val)
n.6696C>G
c.4024C>G (p.Leu1342Val)
16g.48167534G>TCA395804091ABCC11c.4018C>A (p.Leu1340Met)
c.3904C>A (p.Leu1302Met)
n.1318C>A
c.3820C>A (p.Leu1274Met)
c.3061C>A (p.Leu1021Met)
c.2149C>A (p.Leu717Met)
c.3910C>A (p.Leu1304Met)
n.6696C>A
c.4024C>A (p.Leu1342Met)
16g.48167535C>ACA8042948ABCC11c.4017G>T (p.Val1339=)
c.3903G>T (p.Val1301=)
n.1317G>T
c.3819G>T (p.Val1273=)
c.3060G>T (p.Val1020=)
c.2148G>T (p.Val716=)
c.3909G>T (p.Val1303=)
n.6695G>T
c.4023G>T (p.Val1341=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.48167535C=CA2220652319ABCC11c.4017G= (p.Val1339=)
c.3903G= (p.Val1301=)
n.1317G=
c.3819G= (p.Val1273=)
c.3060G= (p.Val1020=)
c.2148G= (p.Val716=)
c.3909G= (p.Val1303=)
n.6695G=
c.4023G= (p.Val1341=)
16g.48167535C>GCA495442632ABCC11c.4017G>C (p.Val1339=)
c.3903G>C (p.Val1301=)
n.1317G>C
c.3819G>C (p.Val1273=)
c.3060G>C (p.Val1020=)
c.2148G>C (p.Val716=)
c.3909G>C (p.Val1303=)
n.6695G>C
c.4023G>C (p.Val1341=)
16g.48167535C>TCA495442633ABCC11c.4017G>A (p.Val1339=)
c.3903G>A (p.Val1301=)
n.1317G>A
c.3819G>A (p.Val1273=)
c.3060G>A (p.Val1020=)
c.2148G>A (p.Val716=)
c.3909G>A (p.Val1303=)
n.6695G>A
c.4023G>A (p.Val1341=)
16g.48167536A>CCA395804099ABCC11c.4016T>G (p.Val1339Gly)
c.3902T>G (p.Val1301Gly)
n.1316T>G
c.3818T>G (p.Val1273Gly)
c.3059T>G (p.Val1020Gly)
c.2147T>G (p.Val716Gly)
c.3908T>G (p.Val1303Gly)
n.6694T>G
c.4022T>G (p.Val1341Gly)
16g.48167536A>GCA395804102ABCC11c.4016T>C (p.Val1339Ala)
c.3902T>C (p.Val1301Ala)
n.1316T>C
c.3818T>C (p.Val1273Ala)
c.3059T>C (p.Val1020Ala)
c.2147T>C (p.Val716Ala)
c.3908T>C (p.Val1303Ala)
n.6694T>C
c.4022T>C (p.Val1341Ala)
16g.48167536A>TCA395804105ABCC11c.4016T>A (p.Val1339Glu)
c.3902T>A (p.Val1301Glu)
n.1316T>A
c.3818T>A (p.Val1273Glu)
c.3059T>A (p.Val1020Glu)
c.2147T>A (p.Val716Glu)
c.3908T>A (p.Val1303Glu)
n.6694T>A
c.4022T>A (p.Val1341Glu)
16g.48167537C>ACA395804109ABCC11c.4015G>T (p.Val1339Leu)
c.3901G>T (p.Val1301Leu)
n.1315G>T
c.3817G>T (p.Val1273Leu)
c.3058G>T (p.Val1020Leu)
c.2146G>T (p.Val716Leu)
c.3907G>T (p.Val1303Leu)
n.6693G>T
c.4021G>T (p.Val1341Leu)
16g.48167537C>GCA395804111ABCC11c.4015G>C (p.Val1339Leu)
c.3901G>C (p.Val1301Leu)
n.1315G>C
c.3817G>C (p.Val1273Leu)
c.3058G>C (p.Val1020Leu)
c.2146G>C (p.Val716Leu)
c.3907G>C (p.Val1303Leu)
n.6693G>C
c.4021G>C (p.Val1341Leu)
16g.48167537C>TCA395804113ABCC11c.4015G>A (p.Val1339Met)
c.3901G>A (p.Val1301Met)
n.1315G>A
c.3817G>A (p.Val1273Met)
c.3058G>A (p.Val1020Met)
c.2146G>A (p.Val716Met)
c.3907G>A (p.Val1303Met)
n.6693G>A
c.4021G>A (p.Val1341Met)
 dbSNP
16g.48167538A=CA2220652323ABCC11c.4014T= (p.Thr1338=)
c.3900T= (p.Thr1300=)
n.1314T=
c.3816T= (p.Thr1272=)
c.3057T= (p.Thr1019=)
c.2145T= (p.Thr715=)
c.3906T= (p.Thr1302=)
n.6692T=
c.4020T= (p.Thr1340=)
16g.48167538A>CCA495442634ABCC11c.4014T>G (p.Thr1338=)
c.3900T>G (p.Thr1300=)
n.1314T>G
c.3816T>G (p.Thr1272=)
c.3057T>G (p.Thr1019=)
c.2145T>G (p.Thr715=)
c.3906T>G (p.Thr1302=)
n.6692T>G
c.4020T>G (p.Thr1340=)
16g.48167538A>GCA495442635ABCC11c.4014T>C (p.Thr1338=)
c.3900T>C (p.Thr1300=)
n.1314T>C
c.3816T>C (p.Thr1272=)
c.3057T>C (p.Thr1019=)
c.2145T>C (p.Thr715=)
c.3906T>C (p.Thr1302=)
n.6692T>C
c.4020T>C (p.Thr1340=)
 dbSNP
16g.48167538A>TCA495442636ABCC11c.4014T>A (p.Thr1338=)
c.3900T>A (p.Thr1300=)
n.1314T>A
c.3816T>A (p.Thr1272=)
c.3057T>A (p.Thr1019=)
c.2145T>A (p.Thr715=)
c.3906T>A (p.Thr1302=)
n.6692T>A
c.4020T>A (p.Thr1340=)
16g.48167539G>ACA395804115ABCC11c.4013C>T (p.Thr1338Ile)
c.3899C>T (p.Thr1300Ile)
n.1313C>T
c.3815C>T (p.Thr1272Ile)
c.3056C>T (p.Thr1019Ile)
c.2144C>T (p.Thr715Ile)
c.3905C>T (p.Thr1302Ile)
n.6691C>T
c.4019C>T (p.Thr1340Ile)
 gnomAD v4
16g.48167539G>CCA395804120ABCC11c.4013C>G (p.Thr1338Ser)
c.3899C>G (p.Thr1300Ser)
n.1313C>G
c.3815C>G (p.Thr1272Ser)
c.3056C>G (p.Thr1019Ser)
c.2144C>G (p.Thr715Ser)
c.3905C>G (p.Thr1302Ser)
n.6691C>G
c.4019C>G (p.Thr1340Ser)
16g.48167539G>TCA395804117ABCC11c.4013C>A (p.Thr1338Asn)
c.3899C>A (p.Thr1300Asn)
n.1313C>A
c.3815C>A (p.Thr1272Asn)
c.3056C>A (p.Thr1019Asn)
c.2144C>A (p.Thr715Asn)
c.3905C>A (p.Thr1302Asn)
n.6691C>A
c.4019C>A (p.Thr1340Asn)
16g.48167540T>ACA395804122ABCC11c.4012A>T (p.Thr1338Ser)
c.3898A>T (p.Thr1300Ser)
n.1312A>T
c.3814A>T (p.Thr1272Ser)
c.3055A>T (p.Thr1019Ser)
c.2143A>T (p.Thr715Ser)
c.3904A>T (p.Thr1302Ser)
n.6690A>T
c.4018A>T (p.Thr1340Ser)
16g.48167540T>CCA395804127ABCC11c.4012A>G (p.Thr1338Ala)
c.3898A>G (p.Thr1300Ala)
n.1312A>G
c.3814A>G (p.Thr1272Ala)
c.3055A>G (p.Thr1019Ala)
c.2143A>G (p.Thr715Ala)
c.3904A>G (p.Thr1302Ala)
n.6690A>G
c.4018A>G (p.Thr1340Ala)
16g.48167540T>GCA395804130ABCC11c.4012A>C (p.Thr1338Pro)
c.3898A>C (p.Thr1300Pro)
n.1312A>C
c.3814A>C (p.Thr1272Pro)
c.3055A>C (p.Thr1019Pro)
c.2143A>C (p.Thr715Pro)
c.3904A>C (p.Thr1302Pro)
n.6690A>C
c.4018A>C (p.Thr1340Pro)
16g.48167541G>ACA495442637ABCC11c.4011C>T (p.Thr1337=)
c.3897C>T (p.Thr1299=)
n.1311C>T
c.3813C>T (p.Thr1271=)
c.3054C>T (p.Thr1018=)
c.2142C>T (p.Thr714=)
c.3903C>T (p.Thr1301=)
n.6689C>T
c.4017C>T (p.Thr1339=)
16g.48167541G>CCA495442638ABCC11c.4011C>G (p.Thr1337=)
c.3897C>G (p.Thr1299=)
n.1311C>G
c.3813C>G (p.Thr1271=)
c.3054C>G (p.Thr1018=)
c.2142C>G (p.Thr714=)
c.3903C>G (p.Thr1301=)
n.6689C>G
c.4017C>G (p.Thr1339=)
16g.48167541G>TCA495442639ABCC11c.4011C>A (p.Thr1337=)
c.3897C>A (p.Thr1299=)
n.1311C>A
c.3813C>A (p.Thr1271=)
c.3054C>A (p.Thr1018=)
c.2142C>A (p.Thr714=)
c.3903C>A (p.Thr1301=)
n.6689C>A
c.4017C>A (p.Thr1339=)
16g.48167542G>ACA395804132ABCC11c.4010C>T (p.Thr1337Ile)
c.3896C>T (p.Thr1299Ile)
n.1310C>T
c.3812C>T (p.Thr1271Ile)
c.3053C>T (p.Thr1018Ile)
c.2141C>T (p.Thr714Ile)
c.3902C>T (p.Thr1301Ile)
n.6688C>T
c.4016C>T (p.Thr1339Ile)
 gnomAD v4
16g.48167542G>CCA8042949ABCC11c.4010C>G (p.Thr1337Ser)
c.3896C>G (p.Thr1299Ser)
n.1310C>G
c.3812C>G (p.Thr1271Ser)
c.3053C>G (p.Thr1018Ser)
c.2141C>G (p.Thr714Ser)
c.3902C>G (p.Thr1301Ser)
n.6688C>G
c.4016C>G (p.Thr1339Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.48167542G=CA2220652328ABCC11c.4010C= (p.Thr1337=)
c.3896C= (p.Thr1299=)
n.1310C=
c.3812C= (p.Thr1271=)
c.3053C= (p.Thr1018=)
c.2141C= (p.Thr714=)
c.3902C= (p.Thr1301=)
n.6688C=
c.4016C= (p.Thr1339=)
16g.48167542G>TCA395804137ABCC11c.4010C>A (p.Thr1337Asn)
c.3896C>A (p.Thr1299Asn)
n.1310C>A
c.3812C>A (p.Thr1271Asn)
c.3053C>A (p.Thr1018Asn)
c.2141C>A (p.Thr714Asn)
c.3902C>A (p.Thr1301Asn)
n.6688C>A
c.4016C>A (p.Thr1339Asn)
16g.48167543T>ACA395804140ABCC11c.4009A>T (p.Thr1337Ser)
c.3895A>T (p.Thr1299Ser)
n.1309A>T
c.3811A>T (p.Thr1271Ser)
c.3052A>T (p.Thr1018Ser)
c.2140A>T (p.Thr714Ser)
c.3901A>T (p.Thr1301Ser)
n.6687A>T
c.4015A>T (p.Thr1339Ser)
16g.48167543T>CCA395804143ABCC11c.4009A>G (p.Thr1337Ala)
c.3895A>G (p.Thr1299Ala)
n.1309A>G
c.3811A>G (p.Thr1271Ala)
c.3052A>G (p.Thr1018Ala)
c.2140A>G (p.Thr714Ala)
c.3901A>G (p.Thr1301Ala)
n.6687A>G
c.4015A>G (p.Thr1339Ala)
 dbSNP gnomAD v3 gnomAD v4
16g.48167543T>GCA395804146ABCC11c.4009A>C (p.Thr1337Pro)
c.3895A>C (p.Thr1299Pro)
n.1309A>C
c.3811A>C (p.Thr1271Pro)
c.3052A>C (p.Thr1018Pro)
c.2140A>C (p.Thr714Pro)
c.3901A>C (p.Thr1301Pro)
n.6687A>C
c.4015A>C (p.Thr1339Pro)
16g.48167543T=CA2220652335ABCC11c.4009A= (p.Thr1337=)
c.3895A= (p.Thr1299=)
n.1309A=
c.3811A= (p.Thr1271=)
c.3052A= (p.Thr1018=)
c.2140A= (p.Thr714=)
c.3901A= (p.Thr1301=)
n.6687A=
c.4015A= (p.Thr1339=)
16g.48167544G>ACA495442640ABCC11c.4008C>T (p.Val1336=)
c.3894C>T (p.Val1298=)
n.1308C>T
c.3810C>T (p.Val1270=)
c.3051C>T (p.Val1017=)
c.2139C>T (p.Val713=)
c.3900C>T (p.Val1300=)
n.6686C>T
c.4014C>T (p.Val1338=)
16g.48167544G>CCA495442642ABCC11c.4008C>G (p.Val1336=)
c.3894C>G (p.Val1298=)
n.1308C>G
c.3810C>G (p.Val1270=)
c.3051C>G (p.Val1017=)
c.2139C>G (p.Val713=)
c.3900C>G (p.Val1300=)
n.6686C>G
c.4014C>G (p.Val1338=)
16g.48167544G>TCA495442641ABCC11c.4008C>A (p.Val1336=)
c.3894C>A (p.Val1298=)
n.1308C>A
c.3810C>A (p.Val1270=)
c.3051C>A (p.Val1017=)
c.2139C>A (p.Val713=)
c.3900C>A (p.Val1300=)
n.6686C>A
c.4014C>A (p.Val1338=)
16g.48167545A>CCA395804154ABCC11c.4007T>G (p.Val1336Gly)
c.3893T>G (p.Val1298Gly)
n.1307T>G
c.3809T>G (p.Val1270Gly)
c.3050T>G (p.Val1017Gly)
c.2138T>G (p.Val713Gly)
c.3899T>G (p.Val1300Gly)
n.6685T>G
c.4013T>G (p.Val1338Gly)
16g.48167545A>GCA395804152ABCC11c.4007T>C (p.Val1336Ala)
c.3893T>C (p.Val1298Ala)
n.1307T>C
c.3809T>C (p.Val1270Ala)
c.3050T>C (p.Val1017Ala)
c.2138T>C (p.Val713Ala)
c.3899T>C (p.Val1300Ala)
n.6685T>C
c.4013T>C (p.Val1338Ala)
16g.48167545A>TCA395804149ABCC11c.4007T>A (p.Val1336Asp)
c.3893T>A (p.Val1298Asp)
n.1307T>A
c.3809T>A (p.Val1270Asp)
c.3050T>A (p.Val1017Asp)
c.2138T>A (p.Val713Asp)
c.3899T>A (p.Val1300Asp)
n.6685T>A
c.4013T>A (p.Val1338Asp)
 gnomAD v4 COSMIC
16g.48167546C>ACA395804158ABCC11c.4006G>T (p.Val1336Phe)
c.3892G>T (p.Val1298Phe)
n.1306G>T
c.3808G>T (p.Val1270Phe)
c.3049G>T (p.Val1017Phe)
c.2137G>T (p.Val713Phe)
c.3898G>T (p.Val1300Phe)
n.6684G>T
c.4012G>T (p.Val1338Phe)
16g.48167546C=CA2220652339ABCC11c.4006G= (p.Val1336=)
c.3892G= (p.Val1298=)
n.1306G=
c.3808G= (p.Val1270=)
c.3049G= (p.Val1017=)
c.2137G= (p.Val713=)
c.3898G= (p.Val1300=)
n.6684G=
c.4012G= (p.Val1338=)
16g.48167546C>GCA395804159ABCC11c.4006G>C (p.Val1336Leu)
c.3892G>C (p.Val1298Leu)
n.1306G>C
c.3808G>C (p.Val1270Leu)
c.3049G>C (p.Val1017Leu)
c.2137G>C (p.Val713Leu)
c.3898G>C (p.Val1300Leu)
n.6684G>C
c.4012G>C (p.Val1338Leu)
 dbSNP gnomAD v3 gnomAD v4
16g.48167546C>TCA395804160ABCC11c.4006G>A (p.Val1336Ile)
c.3892G>A (p.Val1298Ile)
n.1306G>A
c.3808G>A (p.Val1270Ile)
c.3049G>A (p.Val1017Ile)
c.2137G>A (p.Val713Ile)
c.3898G>A (p.Val1300Ile)
n.6684G>A
c.4012G>A (p.Val1338Ile)
 gnomAD v4
16g.48167547A>CCA495442643ABCC11c.4005T>G (p.Arg1335=)
c.3891T>G (p.Arg1297=)
n.1305T>G
c.3807T>G (p.Arg1269=)
c.3048T>G (p.Arg1016=)
c.2136T>G (p.Arg712=)
c.3897T>G (p.Arg1299=)
n.6683T>G
c.4011T>G (p.Arg1337=)
16g.48167547A>GCA495442644ABCC11c.4005T>C (p.Arg1335=)
c.3891T>C (p.Arg1297=)
n.1305T>C
c.3807T>C (p.Arg1269=)
c.3048T>C (p.Arg1016=)
c.2136T>C (p.Arg712=)
c.3897T>C (p.Arg1299=)
n.6683T>C
c.4011T>C (p.Arg1337=)
16g.48167547A>TCA495442645ABCC11c.4005T>A (p.Arg1335=)
c.3891T>A (p.Arg1297=)
n.1305T>A
c.3807T>A (p.Arg1269=)
c.3048T>A (p.Arg1016=)
c.2136T>A (p.Arg712=)
c.3897T>A (p.Arg1299=)
n.6683T>A
c.4011T>A (p.Arg1337=)
16g.48167548C>ACA395804161ABCC11c.4004G>T (p.Arg1335Leu)
c.3890G>T (p.Arg1297Leu)
n.1304G>T
c.3806G>T (p.Arg1269Leu)
c.3047G>T (p.Arg1016Leu)
c.2135G>T (p.Arg712Leu)
c.3896G>T (p.Arg1299Leu)
n.6682G>T
c.4010G>T (p.Arg1337Leu)
16g.48167548C=CA2220652344ABCC11c.4004G= (p.Arg1335=)
c.3890G= (p.Arg1297=)
n.1304G=
c.3806G= (p.Arg1269=)
c.3047G= (p.Arg1016=)
c.2135G= (p.Arg712=)
c.3896G= (p.Arg1299=)
n.6682G=
c.4010G= (p.Arg1337=)
16g.48167548C>GCA395804162ABCC11c.4004G>C (p.Arg1335Pro)
c.3890G>C (p.Arg1297Pro)
n.1304G>C
c.3806G>C (p.Arg1269Pro)
c.3047G>C (p.Arg1016Pro)
c.2135G>C (p.Arg712Pro)
c.3896G>C (p.Arg1299Pro)
n.6682G>C
c.4010G>C (p.Arg1337Pro)
 dbSNP
16g.48167548C>TCA8042950ABCC11c.4004G>A (p.Arg1335His)
c.3890G>A (p.Arg1297His)
n.1304G>A
c.3806G>A (p.Arg1269His)
c.3047G>A (p.Arg1016His)
c.2135G>A (p.Arg712His)
c.3896G>A (p.Arg1299His)
n.6682G>A
c.4010G>A (p.Arg1337His)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.48167549G>ACA395804164ABCC11c.4003C>T (p.Arg1335Cys)
c.3889C>T (p.Arg1297Cys)
n.1303C>T
c.3805C>T (p.Arg1269Cys)
c.3046C>T (p.Arg1016Cys)
c.2134C>T (p.Arg712Cys)
c.3895C>T (p.Arg1299Cys)
n.6681C>T
c.4009C>T (p.Arg1337Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.48167549G>CCA395804166ABCC11c.4003C>G (p.Arg1335Gly)
c.3889C>G (p.Arg1297Gly)
n.1303C>G
c.3805C>G (p.Arg1269Gly)
c.3046C>G (p.Arg1016Gly)
c.2134C>G (p.Arg712Gly)
c.3895C>G (p.Arg1299Gly)
n.6681C>G
c.4009C>G (p.Arg1337Gly)
16g.48167549G=CA2220652354ABCC11c.4003C= (p.Arg1335=)
c.3889C= (p.Arg1297=)
n.1303C=
c.3805C= (p.Arg1269=)
c.3046C= (p.Arg1016=)
c.2134C= (p.Arg712=)
c.3895C= (p.Arg1299=)
n.6681C=
c.4009C= (p.Arg1337=)
16g.48167549G>TCA395804167ABCC11c.4003C>A (p.Arg1335Ser)
c.3889C>A (p.Arg1297Ser)
n.1303C>A
c.3805C>A (p.Arg1269Ser)
c.3046C>A (p.Arg1016Ser)
c.2134C>A (p.Arg712Ser)
c.3895C>A (p.Arg1299Ser)
n.6681C>A
c.4009C>A (p.Arg1337Ser)
16g.48167550G>ACA495442646ABCC11c.4002C>T (p.His1334=)
c.3888C>T (p.His1296=)
n.1302C>T
c.3804C>T (p.His1268=)
c.3045C>T (p.His1015=)
c.2133C>T (p.His711=)
c.3894C>T (p.His1298=)
n.6680C>T
c.4008C>T (p.His1336=)
 dbSNP
16g.48167550G>CCA395804168ABCC11c.4002C>G (p.His1334Gln)
c.3888C>G (p.His1296Gln)
n.1302C>G
c.3804C>G (p.His1268Gln)
c.3045C>G (p.His1015Gln)
c.2133C>G (p.His711Gln)
c.3894C>G (p.His1298Gln)
n.6680C>G
c.4008C>G (p.His1336Gln)
 dbSNP
16g.48167550G=CA2220652366ABCC11c.4002C= (p.His1334=)
c.3888C= (p.His1296=)
n.1302C=
c.3804C= (p.His1268=)
c.3045C= (p.His1015=)
c.2133C= (p.His711=)
c.3894C= (p.His1298=)
n.6680C=
c.4008C= (p.His1336=)
16g.48167550G>TCA395804169ABCC11c.4002C>A (p.His1334Gln)
c.3888C>A (p.His1296Gln)
n.1302C>A
c.3804C>A (p.His1268Gln)
c.3045C>A (p.His1015Gln)
c.2133C>A (p.His711Gln)
c.3894C>A (p.His1298Gln)
n.6680C>A
c.4008C>A (p.His1336Gln)
 dbSNP
16g.48167551T>ACA395804174ABCC11c.4001A>T (p.His1334Leu)
c.3887A>T (p.His1296Leu)
n.1301A>T
c.3803A>T (p.His1268Leu)
c.3044A>T (p.His1015Leu)
c.2132A>T (p.His711Leu)
c.3893A>T (p.His1298Leu)
n.6679A>T
c.4007A>T (p.His1336Leu)
16g.48167551T>CCA395804172ABCC11c.4001A>G (p.His1334Arg)
c.3887A>G (p.His1296Arg)
n.1301A>G
c.3803A>G (p.His1268Arg)
c.3044A>G (p.His1015Arg)
c.2132A>G (p.His711Arg)
c.3893A>G (p.His1298Arg)
n.6679A>G
c.4007A>G (p.His1336Arg)
16g.48167551T>GCA395804171ABCC11c.4001A>C (p.His1334Pro)
c.3887A>C (p.His1296Pro)
n.1301A>C
c.3803A>C (p.His1268Pro)
c.3044A>C (p.His1015Pro)
c.2132A>C (p.His711Pro)
c.3893A>C (p.His1298Pro)
n.6679A>C
c.4007A>C (p.His1336Pro)
16g.48167552G>ACA395804178ABCC11c.4000C>T (p.His1334Tyr)
c.3886C>T (p.His1296Tyr)
n.1300C>T
c.3802C>T (p.His1268Tyr)
c.3043C>T (p.His1015Tyr)
c.2131C>T (p.His711Tyr)
c.3892C>T (p.His1298Tyr)
n.6678C>T
c.4006C>T (p.His1336Tyr)
16g.48167552G>CCA395804179ABCC11c.4000C>G (p.His1334Asp)
c.3886C>G (p.His1296Asp)
n.1300C>G
c.3802C>G (p.His1268Asp)
c.3043C>G (p.His1015Asp)
c.2131C>G (p.His711Asp)
c.3892C>G (p.His1298Asp)
n.6678C>G
c.4006C>G (p.His1336Asp)
16g.48167552G>TCA395804183ABCC11c.4000C>A (p.His1334Asn)
c.3886C>A (p.His1296Asn)
n.1300C>A
c.3802C>A (p.His1268Asn)
c.3043C>A (p.His1015Asn)
c.2131C>A (p.His711Asn)
c.3892C>A (p.His1298Asn)
n.6678C>A
c.4006C>A (p.His1336Asn)
16g.48167553G>ACA495442647ABCC11c.3999C>T (p.Ala1333=)
c.3885C>T (p.Ala1295=)
n.1299C>T
c.3801C>T (p.Ala1267=)
c.3042C>T (p.Ala1014=)
c.2130C>T (p.Ala710=)
c.3891C>T (p.Ala1297=)
n.6677C>T
c.4005C>T (p.Ala1335=)
16g.48167553G>CCA495442648ABCC11c.3999C>G (p.Ala1333=)
c.3885C>G (p.Ala1295=)
n.1299C>G
c.3801C>G (p.Ala1267=)
c.3042C>G (p.Ala1014=)
c.2130C>G (p.Ala710=)
c.3891C>G (p.Ala1297=)
n.6677C>G
c.4005C>G (p.Ala1335=)
16g.48167553G>TCA495442649ABCC11c.3999C>A (p.Ala1333=)
c.3885C>A (p.Ala1295=)
n.1299C>A
c.3801C>A (p.Ala1267=)
c.3042C>A (p.Ala1014=)
c.2130C>A (p.Ala710=)
c.3891C>A (p.Ala1297=)
n.6677C>A
c.4005C>A (p.Ala1335=)
16g.48167554G>ACA395804186ABCC11c.3998C>T (p.Ala1333Val)
c.3884C>T (p.Ala1295Val)
n.1298C>T
c.3800C>T (p.Ala1267Val)
c.3041C>T (p.Ala1014Val)
c.2129C>T (p.Ala710Val)
c.3890C>T (p.Ala1297Val)
n.6676C>T
c.4004C>T (p.Ala1335Val)
 dbSNP
16g.48167554G>CCA395804188ABCC11c.3998C>G (p.Ala1333Gly)
c.3884C>G (p.Ala1295Gly)
n.1298C>G
c.3800C>G (p.Ala1267Gly)
c.3041C>G (p.Ala1014Gly)
c.2129C>G (p.Ala710Gly)
c.3890C>G (p.Ala1297Gly)
n.6676C>G
c.4004C>G (p.Ala1335Gly)
16g.48167554G>TCA395804191ABCC11c.3998C>A (p.Ala1333Asp)
c.3884C>A (p.Ala1295Asp)
n.1298C>A
c.3800C>A (p.Ala1267Asp)
c.3041C>A (p.Ala1014Asp)
c.2129C>A (p.Ala710Asp)
c.3890C>A (p.Ala1297Asp)
n.6676C>A
c.4004C>A (p.Ala1335Asp)
16g.48167555C>ACA395804194ABCC11c.3997G>T (p.Ala1333Ser)
c.3883G>T (p.Ala1295Ser)
n.1297G>T
c.3799G>T (p.Ala1267Ser)
c.3040G>T (p.Ala1014Ser)
c.2128G>T (p.Ala710Ser)
c.3889G>T (p.Ala1297Ser)
n.6675G>T
c.4003G>T (p.Ala1335Ser)
 dbSNP
16g.48167555C=CA2220652374ABCC11c.3997G= (p.Ala1333=)
c.3883G= (p.Ala1295=)
n.1297G=
c.3799G= (p.Ala1267=)
c.3040G= (p.Ala1014=)
c.2128G= (p.Ala710=)
c.3889G= (p.Ala1297=)
n.6675G=
c.4003G= (p.Ala1335=)
16g.48167555C>GCA395804197ABCC11c.3997G>C (p.Ala1333Pro)
c.3883G>C (p.Ala1295Pro)
n.1297G>C
c.3799G>C (p.Ala1267Pro)
c.3040G>C (p.Ala1014Pro)
c.2128G>C (p.Ala710Pro)
c.3889G>C (p.Ala1297Pro)
n.6675G>C
c.4003G>C (p.Ala1335Pro)
16g.48167555C>TCA8042951ABCC11c.3997G>A (p.Ala1333Thr)
c.3883G>A (p.Ala1295Thr)
n.1297G>A
c.3799G>A (p.Ala1267Thr)
c.3040G>A (p.Ala1014Thr)
c.2128G>A (p.Ala710Thr)
c.3889G>A (p.Ala1297Thr)
n.6675G>A
c.4003G>A (p.Ala1335Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.48167555_48167559delinsCAATGCA2220652377ABCC11c.3993_3997delinsCATTG (p.Val1331=)
c.3879_3883delinsCATTG (p.Val1293=)
n.1293_1297delinsCATTG
c.3795_3799delinsCATTG (p.Val1265=)
c.3036_3040delinsCATTG (p.Val1012=)
c.2124_2128delinsCATTG (p.Val708=)
c.3885_3889delinsCATTG (p.Val1295=)
n.6671_6675delinsCATTG
c.3999_4003delinsCATTG (p.Val1333=)
16g.48167556A>CCA395804207ABCC11c.3996T>G (p.Ile1332Met)
c.3882T>G (p.Ile1294Met)
n.1296T>G
c.3798T>G (p.Ile1266Met)
c.3039T>G (p.Ile1013Met)
c.2127T>G (p.Ile709Met)
c.3888T>G (p.Ile1296Met)
n.6674T>G
c.4002T>G (p.Ile1334Met)
 gnomAD v4
16g.48167556A>GCA495442650ABCC11c.3996T>C (p.Ile1332=)
c.3882T>C (p.Ile1294=)
n.1296T>C
c.3798T>C (p.Ile1266=)
c.3039T>C (p.Ile1013=)
c.2127T>C (p.Ile709=)
c.3888T>C (p.Ile1296=)
n.6674T>C
c.4002T>C (p.Ile1334=)
16g.48167556A>TCA495442651ABCC11c.3996T>A (p.Ile1332=)
c.3882T>A (p.Ile1294=)
n.1296T>A
c.3798T>A (p.Ile1266=)
c.3039T>A (p.Ile1013=)
c.2127T>A (p.Ile709=)
c.3888T>A (p.Ile1296=)
n.6674T>A
c.4002T>A (p.Ile1334=)
16g.48167557_48167560delCA622652860ABCC11c.3993_3996del (p.Ile1332ProfsTer8)
c.3879_3882del (p.Ile1294ProfsTer8)
n.1293_1296del
c.3795_3798del (p.Ile1266ProfsTer8)
c.3036_3039del (p.Ile1013ProfsTer8)
c.2124_2127del (p.Ile709ProfsTer8)
c.3885_3888del (p.Ile1296ProfsTer8)
n.6671_6674del
c.3999_4002del (p.Ile1334ProfsTer8)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.48167557A>CCA395804209ABCC11c.3995T>G (p.Ile1332Ser)
c.3881T>G (p.Ile1294Ser)
n.1295T>G
c.3797T>G (p.Ile1266Ser)
c.3038T>G (p.Ile1013Ser)
c.2126T>G (p.Ile709Ser)
c.3887T>G (p.Ile1296Ser)
n.6673T>G
c.4001T>G (p.Ile1334Ser)
16g.48167557A>GCA395804211ABCC11c.3995T>C (p.Ile1332Thr)
c.3881T>C (p.Ile1294Thr)
n.1295T>C
c.3797T>C (p.Ile1266Thr)
c.3038T>C (p.Ile1013Thr)
c.2126T>C (p.Ile709Thr)
c.3887T>C (p.Ile1296Thr)
n.6673T>C
c.4001T>C (p.Ile1334Thr)
16g.48167557A>TCA395804214ABCC11c.3995T>A (p.Ile1332Asn)
c.3881T>A (p.Ile1294Asn)
n.1295T>A
c.3797T>A (p.Ile1266Asn)
c.3038T>A (p.Ile1013Asn)
c.2126T>A (p.Ile709Asn)
c.3887T>A (p.Ile1296Asn)
n.6673T>A
c.4001T>A (p.Ile1334Asn)
16g.48167558T>ACA395804223ABCC11c.3994A>T (p.Ile1332Phe)
c.3880A>T (p.Ile1294Phe)
n.1294A>T
c.3796A>T (p.Ile1266Phe)
c.3037A>T (p.Ile1013Phe)
c.2125A>T (p.Ile709Phe)
c.3886A>T (p.Ile1296Phe)
n.6672A>T
c.4000A>T (p.Ile1334Phe)
16g.48167558T>CCA395804220ABCC11c.3994A>G (p.Ile1332Val)
c.3880A>G (p.Ile1294Val)
n.1294A>G
c.3796A>G (p.Ile1266Val)
c.3037A>G (p.Ile1013Val)
c.2125A>G (p.Ile709Val)
c.3886A>G (p.Ile1296Val)
n.6672A>G
c.4000A>G (p.Ile1334Val)
 dbSNP gnomAD v3 gnomAD v4
16g.48167558T>GCA395804217ABCC11c.3994A>C (p.Ile1332Leu)
c.3880A>C (p.Ile1294Leu)
n.1294A>C
c.3796A>C (p.Ile1266Leu)
c.3037A>C (p.Ile1013Leu)
c.2125A>C (p.Ile709Leu)
c.3886A>C (p.Ile1296Leu)
n.6672A>C
c.4000A>C (p.Ile1334Leu)
16g.48167558T=CA2220652389ABCC11c.3994A= (p.Ile1332=)
c.3880A= (p.Ile1294=)
n.1294A=
c.3796A= (p.Ile1266=)
c.3037A= (p.Ile1013=)
c.2125A= (p.Ile709=)
c.3886A= (p.Ile1296=)
n.6672A=
c.4000A= (p.Ile1334=)
16g.48167559G>ACA495442652ABCC11c.3993C>T (p.Val1331=)
c.3879C>T (p.Val1293=)
n.1293C>T
c.3795C>T (p.Val1265=)
c.3036C>T (p.Val1012=)
c.2124C>T (p.Val708=)
c.3885C>T (p.Val1295=)
n.6671C>T
c.3999C>T (p.Val1333=)
16g.48167559G>CCA495442653ABCC11c.3993C>G (p.Val1331=)
c.3879C>G (p.Val1293=)
n.1293C>G
c.3795C>G (p.Val1265=)
c.3036C>G (p.Val1012=)
c.2124C>G (p.Val708=)
c.3885C>G (p.Val1295=)
n.6671C>G
c.3999C>G (p.Val1333=)
16g.48167559G>TCA495442654ABCC11c.3993C>A (p.Val1331=)
c.3879C>A (p.Val1293=)
n.1293C>A
c.3795C>A (p.Val1265=)
c.3036C>A (p.Val1012=)
c.2124C>A (p.Val708=)
c.3885C>A (p.Val1295=)
n.6671C>A
c.3999C>A (p.Val1333=)
16g.48167560A>CCA395804227ABCC11c.3992T>G (p.Val1331Gly)
c.3878T>G (p.Val1293Gly)
n.1292T>G
c.3794T>G (p.Val1265Gly)
c.3035T>G (p.Val1012Gly)
c.2123T>G (p.Val708Gly)
c.3884T>G (p.Val1295Gly)
n.6670T>G
c.3998T>G (p.Val1333Gly)
16g.48167560A>GCA395804225ABCC11c.3992T>C (p.Val1331Ala)
c.3878T>C (p.Val1293Ala)
n.1292T>C
c.3794T>C (p.Val1265Ala)
c.3035T>C (p.Val1012Ala)
c.2123T>C (p.Val708Ala)
c.3884T>C (p.Val1295Ala)
n.6670T>C
c.3998T>C (p.Val1333Ala)
 gnomAD v4
16g.48167560A>TCA395804229ABCC11c.3992T>A (p.Val1331Asp)
c.3878T>A (p.Val1293Asp)
n.1292T>A
c.3794T>A (p.Val1265Asp)
c.3035T>A (p.Val1012Asp)
c.2123T>A (p.Val708Asp)
c.3884T>A (p.Val1295Asp)
n.6670T>A
c.3998T>A (p.Val1333Asp)
16g.48167561C>ACA395804232ABCC11c.3991G>T (p.Val1331Phe)
c.3877G>T (p.Val1293Phe)
n.1291G>T
c.3793G>T (p.Val1265Phe)
c.3034G>T (p.Val1012Phe)
c.2122G>T (p.Val708Phe)
c.3883G>T (p.Val1295Phe)
n.6669G>T
c.3997G>T (p.Val1333Phe)
 dbSNP
16g.48167561C=CA2220652390ABCC11c.3991G= (p.Val1331=)
c.3877G= (p.Val1293=)
n.1291G=
c.3793G= (p.Val1265=)
c.3034G= (p.Val1012=)
c.2122G= (p.Val708=)
c.3883G= (p.Val1295=)
n.6669G=
c.3997G= (p.Val1333=)
16g.48167561C>GCA280260563ABCC11c.3991G>C (p.Val1331Leu)
c.3877G>C (p.Val1293Leu)
n.1291G>C
c.3793G>C (p.Val1265Leu)
c.3034G>C (p.Val1012Leu)
c.2122G>C (p.Val708Leu)
c.3883G>C (p.Val1295Leu)
n.6669G>C
c.3997G>C (p.Val1333Leu)
 dbSNP
16g.48167561C>TCA8042952ABCC11c.3991G>A (p.Val1331Ile)
c.3877G>A (p.Val1293Ile)
n.1291G>A
c.3793G>A (p.Val1265Ile)
c.3034G>A (p.Val1012Ile)
c.2122G>A (p.Val708Ile)
c.3883G>A (p.Val1295Ile)
n.6669G>A
c.3997G>A (p.Val1333Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.48167562G>ACA8042953ABCC11c.3990C>T (p.Leu1330=)
c.3876C>T (p.Leu1292=)
n.1290C>T
c.3792C>T (p.Leu1264=)
c.3033C>T (p.Leu1011=)
c.2121C>T (p.Leu707=)
c.3882C>T (p.Leu1294=)
n.6668C>T
c.3996C>T (p.Leu1332=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.48167562G>CCA8042954ABCC11c.3990C>G (p.Leu1330=)
c.3876C>G (p.Leu1292=)
n.1290C>G
c.3792C>G (p.Leu1264=)
c.3033C>G (p.Leu1011=)
c.2121C>G (p.Leu707=)
c.3882C>G (p.Leu1294=)
n.6668C>G
c.3996C>G (p.Leu1332=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.48167562G=CA2220652395ABCC11c.3990C= (p.Leu1330=)
c.3876C= (p.Leu1292=)
n.1290C=
c.3792C= (p.Leu1264=)
c.3033C= (p.Leu1011=)
c.2121C= (p.Leu707=)
c.3882C= (p.Leu1294=)
n.6668C=
c.3996C= (p.Leu1332=)
16g.48167562G>TCA495442655ABCC11c.3990C>A (p.Leu1330=)
c.3876C>A (p.Leu1292=)
n.1290C>A
c.3792C>A (p.Leu1264=)
c.3033C>A (p.Leu1011=)
c.2121C>A (p.Leu707=)
c.3882C>A (p.Leu1294=)
n.6668C>A
c.3996C>A (p.Leu1332=)
16g.48167563A>CCA395804243ABCC11c.3989T>G (p.Leu1330Arg)
c.3875T>G (p.Leu1292Arg)
n.1289T>G
c.3791T>G (p.Leu1264Arg)
c.3032T>G (p.Leu1011Arg)
c.2120T>G (p.Leu707Arg)
c.3881T>G (p.Leu1294Arg)
n.6667T>G
c.3995T>G (p.Leu1332Arg)
16g.48167563A>GCA395804245ABCC11c.3989T>C (p.Leu1330Pro)
c.3875T>C (p.Leu1292Pro)
n.1289T>C
c.3791T>C (p.Leu1264Pro)
c.3032T>C (p.Leu1011Pro)
c.2120T>C (p.Leu707Pro)
c.3881T>C (p.Leu1294Pro)
n.6667T>C
c.3995T>C (p.Leu1332Pro)
16g.48167563A>TCA395804248ABCC11c.3989T>A (p.Leu1330His)
c.3875T>A (p.Leu1292His)
n.1289T>A
c.3791T>A (p.Leu1264His)
c.3032T>A (p.Leu1011His)
c.2120T>A (p.Leu707His)
c.3881T>A (p.Leu1294His)
n.6667T>A
c.3995T>A (p.Leu1332His)
16g.48167564G>ACA395804251ABCC11c.3988C>T (p.Leu1330Phe)
c.3874C>T (p.Leu1292Phe)
n.1288C>T
c.3790C>T (p.Leu1264Phe)
c.3031C>T (p.Leu1011Phe)
c.2119C>T (p.Leu707Phe)
c.3880C>T (p.Leu1294Phe)
n.6666C>T
c.3994C>T (p.Leu1332Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.48167564G>CCA395804253ABCC11c.3988C>G (p.Leu1330Val)
c.3874C>G (p.Leu1292Val)
n.1288C>G
c.3790C>G (p.Leu1264Val)
c.3031C>G (p.Leu1011Val)
c.2119C>G (p.Leu707Val)
c.3880C>G (p.Leu1294Val)
n.6666C>G
c.3994C>G (p.Leu1332Val)
16g.48167564G=CA2220652399ABCC11c.3988C= (p.Leu1330=)
c.3874C= (p.Leu1292=)
n.1288C=
c.3790C= (p.Leu1264=)
c.3031C= (p.Leu1011=)
c.2119C= (p.Leu707=)
c.3880C= (p.Leu1294=)
n.6666C=
c.3994C= (p.Leu1332=)
16g.48167564G>TCA395804257ABCC11c.3988C>A (p.Leu1330Ile)
c.3874C>A (p.Leu1292Ile)
n.1288C>A
c.3790C>A (p.Leu1264Ile)
c.3031C>A (p.Leu1011Ile)
c.2119C>A (p.Leu707Ile)
c.3880C>A (p.Leu1294Ile)
n.6666C>A
c.3994C>A (p.Leu1332Ile)
16g.48167565C>ACA495442656ABCC11c.3987G>T (p.Val1329=)
c.3873G>T (p.Val1291=)
n.1287G>T
c.3789G>T (p.Val1263=)
c.3030G>T (p.Val1010=)
c.2118G>T (p.Val706=)
c.3879G>T (p.Val1293=)
n.6665G>T
c.3993G>T (p.Val1331=)
16g.48167565C=CA2220652402ABCC11c.3987G= (p.Val1329=)
c.3873G= (p.Val1291=)
n.1287G=
c.3789G= (p.Val1263=)
c.3030G= (p.Val1010=)
c.2118G= (p.Val706=)
c.3879G= (p.Val1293=)
n.6665G=
c.3993G= (p.Val1331=)
16g.48167565C>GCA495442657ABCC11c.3987G>C (p.Val1329=)
c.3873G>C (p.Val1291=)
n.1287G>C
c.3789G>C (p.Val1263=)
c.3030G>C (p.Val1010=)
c.2118G>C (p.Val706=)
c.3879G>C (p.Val1293=)
n.6665G>C
c.3993G>C (p.Val1331=)
16g.48167565C>TCA8042955ABCC11c.3987G>A (p.Val1329=)
c.3873G>A (p.Val1291=)
n.1287G>A
c.3789G>A (p.Val1263=)
c.3030G>A (p.Val1010=)
c.2118G>A (p.Val706=)
c.3879G>A (p.Val1293=)
n.6665G>A
c.3993G>A (p.Val1331=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.48167566A=CA2220652411ABCC11c.3986T= (p.Val1329=)
c.3872T= (p.Val1291=)
n.1286T=
c.3788T= (p.Val1263=)
c.3029T= (p.Val1010=)
c.2117T= (p.Val706=)
c.3878T= (p.Val1293=)
n.6664T=
c.3992T= (p.Val1331=)
16g.48167566A>CCA395804268ABCC11c.3986T>G (p.Val1329Gly)
c.3872T>G (p.Val1291Gly)
n.1286T>G
c.3788T>G (p.Val1263Gly)
c.3029T>G (p.Val1010Gly)
c.2117T>G (p.Val706Gly)
c.3878T>G (p.Val1293Gly)
n.6664T>G
c.3992T>G (p.Val1331Gly)
16g.48167566A>GCA395804266ABCC11c.3986T>C (p.Val1329Ala)
c.3872T>C (p.Val1291Ala)
n.1286T>C
c.3788T>C (p.Val1263Ala)
c.3029T>C (p.Val1010Ala)
c.2117T>C (p.Val706Ala)
c.3878T>C (p.Val1293Ala)
n.6664T>C
c.3992T>C (p.Val1331Ala)
 dbSNP
16g.48167566A>TCA395804262ABCC11c.3986T>A (p.Val1329Glu)
c.3872T>A (p.Val1291Glu)
n.1286T>A
c.3788T>A (p.Val1263Glu)
c.3029T>A (p.Val1010Glu)
c.2117T>A (p.Val706Glu)
c.3878T>A (p.Val1293Glu)
n.6664T>A
c.3992T>A (p.Val1331Glu)
 dbSNP
16g.48167567C>ACA395804273ABCC11c.3985G>T (p.Val1329Leu)
c.3871G>T (p.Val1291Leu)
n.1285G>T
c.3787G>T (p.Val1263Leu)
c.3028G>T (p.Val1010Leu)
c.2116G>T (p.Val706Leu)
c.3877G>T (p.Val1293Leu)
n.6663G>T
c.3991G>T (p.Val1331Leu)
 gnomAD v4
16g.48167567C=CA2220652417ABCC11c.3985G= (p.Val1329=)
c.3871G= (p.Val1291=)
n.1285G=
c.3787G= (p.Val1263=)
c.3028G= (p.Val1010=)
c.2116G= (p.Val706=)
c.3877G= (p.Val1293=)
n.6663G=
c.3991G= (p.Val1331=)
16g.48167567C>GCA395804276ABCC11c.3985G>C (p.Val1329Leu)
c.3871G>C (p.Val1291Leu)
n.1285G>C
c.3787G>C (p.Val1263Leu)
c.3028G>C (p.Val1010Leu)
c.2116G>C (p.Val706Leu)
c.3877G>C (p.Val1293Leu)
n.6663G>C
c.3991G>C (p.Val1331Leu)
16g.48167567C>TCA8042956ABCC11c.3985G>A (p.Val1329Met)
c.3871G>A (p.Val1291Met)
n.1285G>A
c.3787G>A (p.Val1263Met)
c.3028G>A (p.Val1010Met)
c.2116G>A (p.Val706Met)
c.3877G>A (p.Val1293Met)
n.6663G>A
c.3991G>A (p.Val1331Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.48167568G>ACA8042957ABCC11c.3984C>T (p.Thr1328=)
c.3870C>T (p.Thr1290=)
n.1284C>T
c.3786C>T (p.Thr1262=)
c.3027C>T (p.Thr1009=)
c.2115C>T (p.Thr705=)
c.3876C>T (p.Thr1292=)
n.6662C>T
c.3990C>T (p.Thr1330=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.48167568G>CCA495442658ABCC11c.3984C>G (p.Thr1328=)
c.3870C>G (p.Thr1290=)
n.1284C>G
c.3786C>G (p.Thr1262=)
c.3027C>G (p.Thr1009=)
c.2115C>G (p.Thr705=)
c.3876C>G (p.Thr1292=)
n.6662C>G
c.3990C>G (p.Thr1330=)
 dbSNP gnomAD v2 gnomAD v4
16g.48167568G=CA2220652427ABCC11c.3984C= (p.Thr1328=)
c.3870C= (p.Thr1290=)
n.1284C=
c.3786C= (p.Thr1262=)
c.3027C= (p.Thr1009=)
c.2115C= (p.Thr705=)
c.3876C= (p.Thr1292=)
n.6662C=
c.3990C= (p.Thr1330=)
16g.48167568G>TCA495442659ABCC11c.3984C>A (p.Thr1328=)
c.3870C>A (p.Thr1290=)
n.1284C>A
c.3786C>A (p.Thr1262=)
c.3027C>A (p.Thr1009=)
c.2115C>A (p.Thr705=)
c.3876C>A (p.Thr1292=)
n.6662C>A
c.3990C>A (p.Thr1330=)
16g.48167569G>ACA395804282ABCC11c.3983C>T (p.Thr1328Ile)
c.3869C>T (p.Thr1290Ile)
n.1283C>T
c.3785C>T (p.Thr1262Ile)
c.3026C>T (p.Thr1009Ile)
c.2114C>T (p.Thr705Ile)
c.3875C>T (p.Thr1292Ile)
n.6661C>T
c.3989C>T (p.Thr1330Ile)
16g.48167569G>CCA395804284ABCC11c.3983C>G (p.Thr1328Ser)
c.3869C>G (p.Thr1290Ser)
n.1283C>G
c.3785C>G (p.Thr1262Ser)
c.3026C>G (p.Thr1009Ser)
c.2114C>G (p.Thr705Ser)
c.3875C>G (p.Thr1292Ser)
n.6661C>G
c.3989C>G (p.Thr1330Ser)
 gnomAD v4
16g.48167569G>TCA395804291ABCC11c.3983C>A (p.Thr1328Asn)
c.3869C>A (p.Thr1290Asn)
n.1283C>A
c.3785C>A (p.Thr1262Asn)
c.3026C>A (p.Thr1009Asn)
c.2114C>A (p.Thr705Asn)
c.3875C>A (p.Thr1292Asn)
n.6661C>A
c.3989C>A (p.Thr1330Asn)
16g.48167570T>ACA395804294ABCC11c.3982A>T (p.Thr1328Ser)
c.3868A>T (p.Thr1290Ser)
n.1282A>T
c.3784A>T (p.Thr1262Ser)
c.3025A>T (p.Thr1009Ser)
c.2113A>T (p.Thr705Ser)
c.3874A>T (p.Thr1292Ser)
n.6660A>T
c.3988A>T (p.Thr1330Ser)
16g.48167570T>CCA395804297ABCC11c.3982A>G (p.Thr1328Ala)
c.3868A>G (p.Thr1290Ala)
n.1282A>G
c.3784A>G (p.Thr1262Ala)
c.3025A>G (p.Thr1009Ala)
c.2113A>G (p.Thr705Ala)
c.3874A>G (p.Thr1292Ala)
n.6660A>G
c.3988A>G (p.Thr1330Ala)
16g.48167570T>GCA395804299ABCC11c.3982A>C (p.Thr1328Pro)
c.3868A>C (p.Thr1290Pro)
n.1282A>C
c.3784A>C (p.Thr1262Pro)
c.3025A>C (p.Thr1009Pro)
c.2113A>C (p.Thr705Pro)
c.3874A>C (p.Thr1292Pro)
n.6660A>C
c.3988A>C (p.Thr1330Pro)
16g.48167571G>ACA495442660ABCC11c.3981C>T (p.Cys1327=)
c.3867C>T (p.Cys1289=)
n.1281C>T
c.3783C>T (p.Cys1261=)
c.3024C>T (p.Cys1008=)
c.2112C>T (p.Cys704=)
c.3873C>T (p.Cys1291=)
n.6659C>T
c.3987C>T (p.Cys1329=)
 dbSNP gnomAD v4
16g.48167571G>CCA395804303ABCC11c.3981C>G (p.Cys1327Trp)
c.3867C>G (p.Cys1289Trp)
n.1281C>G
c.3783C>G (p.Cys1261Trp)
c.3024C>G (p.Cys1008Trp)
c.2112C>G (p.Cys704Trp)
c.3873C>G (p.Cys1291Trp)
n.6659C>G
c.3987C>G (p.Cys1329Trp)
16g.48167571G>TCA395804305ABCC11c.3981C>A (p.Cys1327Ter)
c.3867C>A (p.Cys1289Ter)
n.1281C>A
c.3783C>A (p.Cys1261Ter)
c.3024C>A (p.Cys1008Ter)
c.2112C>A (p.Cys704Ter)
c.3873C>A (p.Cys1291Ter)
n.6659C>A
c.3987C>A (p.Cys1329Ter)
16g.48167572C>ACA395804312ABCC11c.3980G>T (p.Cys1327Phe)
c.3866G>T (p.Cys1289Phe)
n.1280G>T
c.3782G>T (p.Cys1261Phe)
c.3023G>T (p.Cys1008Phe)
c.2111G>T (p.Cys704Phe)
c.3872G>T (p.Cys1291Phe)
n.6658G>T
c.3986G>T (p.Cys1329Phe)
 COSMIC
16g.48167572C=CA2220652432ABCC11c.3980G= (p.Cys1327=)
c.3866G= (p.Cys1289=)
n.1280G=
c.3782G= (p.Cys1261=)
c.3023G= (p.Cys1008=)
c.2111G= (p.Cys704=)
c.3872G= (p.Cys1291=)
n.6658G=
c.3986G= (p.Cys1329=)
16g.48167572C>GCA395804310ABCC11c.3980G>C (p.Cys1327Ser)
c.3866G>C (p.Cys1289Ser)
n.1280G>C
c.3782G>C (p.Cys1261Ser)
c.3023G>C (p.Cys1008Ser)
c.2111G>C (p.Cys704Ser)
c.3872G>C (p.Cys1291Ser)
n.6658G>C
c.3986G>C (p.Cys1329Ser)
16g.48167572C>TCA395804307ABCC11c.3980G>A (p.Cys1327Tyr)
c.3866G>A (p.Cys1289Tyr)
n.1280G>A
c.3782G>A (p.Cys1261Tyr)
c.3023G>A (p.Cys1008Tyr)
c.2111G>A (p.Cys704Tyr)
c.3872G>A (p.Cys1291Tyr)
n.6658G>A
c.3986G>A (p.Cys1329Tyr)
 dbSNP gnomAD v4
16g.48167573A=CA2220652436ABCC11c.3979T= (p.Cys1327=)
c.3865T= (p.Cys1289=)
n.1279T=
c.3781T= (p.Cys1261=)
c.3022T= (p.Cys1008=)
c.2110T= (p.Cys704=)
c.3871T= (p.Cys1291=)
n.6657T=
c.3985T= (p.Cys1329=)
16g.48167573A>CCA395804314ABCC11c.3979T>G (p.Cys1327Gly)
c.3865T>G (p.Cys1289Gly)
n.1279T>G
c.3781T>G (p.Cys1261Gly)
c.3022T>G (p.Cys1008Gly)
c.2110T>G (p.Cys704Gly)
c.3871T>G (p.Cys1291Gly)
n.6657T>G
c.3985T>G (p.Cys1329Gly)
16g.48167573A>GCA8042958ABCC11c.3979T>C (p.Cys1327Arg)
c.3865T>C (p.Cys1289Arg)
n.1279T>C
c.3781T>C (p.Cys1261Arg)
c.3022T>C (p.Cys1008Arg)
c.2110T>C (p.Cys704Arg)
c.3871T>C (p.Cys1291Arg)
n.6657T>C
c.3985T>C (p.Cys1329Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.48167573A>TCA395804319ABCC11c.3979T>A (p.Cys1327Ser)
c.3865T>A (p.Cys1289Ser)
n.1279T>A
c.3781T>A (p.Cys1261Ser)
c.3022T>A (p.Cys1008Ser)
c.2110T>A (p.Cys704Ser)
c.3871T>A (p.Cys1291Ser)
n.6657T>A
c.3985T>A (p.Cys1329Ser)
16g.48167574G>ACA495442661ABCC11c.3978C>T (p.Gly1326=)
c.3864C>T (p.Gly1288=)
n.1278C>T
c.3780C>T (p.Gly1260=)
c.3021C>T (p.Gly1007=)
c.2109C>T (p.Gly703=)
c.3870C>T (p.Gly1290=)
n.6656C>T
c.3984C>T (p.Gly1328=)
 dbSNP gnomAD v4
16g.48167574G>CCA495442662ABCC11c.3978C>G (p.Gly1326=)
c.3864C>G (p.Gly1288=)
n.1278C>G
c.3780C>G (p.Gly1260=)
c.3021C>G (p.Gly1007=)
c.2109C>G (p.Gly703=)
c.3870C>G (p.Gly1290=)
n.6656C>G
c.3984C>G (p.Gly1328=)
16g.48167574G>TCA495442663ABCC11c.3978C>A (p.Gly1326=)
c.3864C>A (p.Gly1288=)
n.1278C>A
c.3780C>A (p.Gly1260=)
c.3021C>A (p.Gly1007=)
c.2109C>A (p.Gly703=)
c.3870C>A (p.Gly1290=)
n.6656C>A
c.3984C>A (p.Gly1328=)
16g.48167575C>ACA395804322ABCC11c.3977G>T (p.Gly1326Val)
c.3863G>T (p.Gly1288Val)
n.1277G>T
c.3779G>T (p.Gly1260Val)
c.3020G>T (p.Gly1007Val)
c.2108G>T (p.Gly703Val)
c.3869G>T (p.Gly1290Val)
n.6655G>T
c.3983G>T (p.Gly1328Val)
 dbSNP gnomAD v4
16g.48167575C>GCA395804325ABCC11c.3977G>C (p.Gly1326Ala)
c.3863G>C (p.Gly1288Ala)
n.1277G>C
c.3779G>C (p.Gly1260Ala)
c.3020G>C (p.Gly1007Ala)
c.2108G>C (p.Gly703Ala)
c.3869G>C (p.Gly1290Ala)
n.6655G>C
c.3983G>C (p.Gly1328Ala)
 gnomAD v4 COSMIC
16g.48167575C>TCA395804327ABCC11c.3977G>A (p.Gly1326Asp)
c.3863G>A (p.Gly1288Asp)
n.1277G>A
c.3779G>A (p.Gly1260Asp)
c.3020G>A (p.Gly1007Asp)
c.2108G>A (p.Gly703Asp)
c.3869G>A (p.Gly1290Asp)
n.6655G>A
c.3983G>A (p.Gly1328Asp)
 dbSNP gnomAD v4
16g.48167576C>ACA395804335ABCC11c.3976G>T (p.Gly1326Cys)
c.3862G>T (p.Gly1288Cys)
n.1276G>T
c.3778G>T (p.Gly1260Cys)
c.3019G>T (p.Gly1007Cys)
c.2107G>T (p.Gly703Cys)
c.3868G>T (p.Gly1290Cys)
n.6654G>T
c.3982G>T (p.Gly1328Cys)
16g.48167576C>GCA395804329ABCC11c.3976G>C (p.Gly1326Arg)
c.3862G>C (p.Gly1288Arg)
n.1276G>C
c.3778G>C (p.Gly1260Arg)
c.3019G>C (p.Gly1007Arg)
c.2107G>C (p.Gly703Arg)
c.3868G>C (p.Gly1290Arg)
n.6654G>C
c.3982G>C (p.Gly1328Arg)
16g.48167576C>TCA395804332ABCC11c.3976G>A (p.Gly1326Ser)
c.3862G>A (p.Gly1288Ser)
n.1276G>A
c.3778G>A (p.Gly1260Ser)
c.3019G>A (p.Gly1007Ser)
c.2107G>A (p.Gly703Ser)
c.3868G>A (p.Gly1290Ser)
n.6654G>A
c.3982G>A (p.Gly1328Ser)
16g.48167577C>ACA395804338ABCC11c.3975G>T (p.Gln1325His)
c.3861G>T (p.Gln1287His)
n.1275G>T
c.3777G>T (p.Gln1259His)
c.3018G>T (p.Gln1006His)
c.2106G>T (p.Gln702His)
c.3867G>T (p.Gln1289His)
n.6653G>T
c.3981G>T (p.Gln1327His)
16g.48167577C=CA2220652437ABCC11c.3975G= (p.Gln1325=)
c.3861G= (p.Gln1287=)
n.1275G=
c.3777G= (p.Gln1259=)
c.3018G= (p.Gln1006=)
c.2106G= (p.Gln702=)
c.3867G= (p.Gln1289=)
n.6653G=
c.3981G= (p.Gln1327=)
16g.48167577C>GCA395804339ABCC11c.3975G>C (p.Gln1325His)
c.3861G>C (p.Gln1287His)
n.1275G>C
c.3777G>C (p.Gln1259His)
c.3018G>C (p.Gln1006His)
c.2106G>C (p.Gln702His)
c.3867G>C (p.Gln1289His)
n.6653G>C
c.3981G>C (p.Gln1327His)
16g.48167577C>TCA495442664ABCC11c.3975G>A (p.Gln1325=)
c.3861G>A (p.Gln1287=)
n.1275G>A
c.3777G>A (p.Gln1259=)
c.3018G>A (p.Gln1006=)
c.2106G>A (p.Gln702=)
c.3867G>A (p.Gln1289=)
n.6653G>A
c.3981G>A (p.Gln1327=)
 dbSNP
16g.48167578T>ACA395804341ABCC11c.3974A>T (p.Gln1325Leu)
c.3860A>T (p.Gln1287Leu)
n.1274A>T
c.3776A>T (p.Gln1259Leu)
c.3017A>T (p.Gln1006Leu)
c.2105A>T (p.Gln702Leu)
c.3866A>T (p.Gln1289Leu)
n.6652A>T
c.3980A>T (p.Gln1327Leu)
16g.48167578T>CCA8042959ABCC11c.3974A>G (p.Gln1325Arg)
c.3860A>G (p.Gln1287Arg)
n.1274A>G
c.3776A>G (p.Gln1259Arg)
c.3017A>G (p.Gln1006Arg)
c.2105A>G (p.Gln702Arg)
c.3866A>G (p.Gln1289Arg)
n.6652A>G
c.3980A>G (p.Gln1327Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.48167578T>GCA395804345ABCC11c.3974A>C (p.Gln1325Pro)
c.3860A>C (p.Gln1287Pro)
n.1274A>C
c.3776A>C (p.Gln1259Pro)
c.3017A>C (p.Gln1006Pro)
c.2105A>C (p.Gln702Pro)
c.3866A>C (p.Gln1289Pro)
n.6652A>C
c.3980A>C (p.Gln1327Pro)
16g.48167578T=CA2220652439ABCC11c.3974A= (p.Gln1325=)
c.3860A= (p.Gln1287=)
n.1274A=
c.3776A= (p.Gln1259=)
c.3017A= (p.Gln1006=)
c.2105A= (p.Gln702=)
c.3866A= (p.Gln1289=)
n.6652A=
c.3980A= (p.Gln1327=)
16g.48167579G>ACA395804347ABCC11c.3973C>T (p.Gln1325Ter)
c.3859C>T (p.Gln1287Ter)
n.1273C>T
c.3775C>T (p.Gln1259Ter)
c.3016C>T (p.Gln1006Ter)
c.2104C>T (p.Gln702Ter)
c.3865C>T (p.Gln1289Ter)
n.6651C>T
c.3979C>T (p.Gln1327Ter)
16g.48167579G>CCA8042960ABCC11c.3973C>G (p.Gln1325Glu)
c.3859C>G (p.Gln1287Glu)
n.1273C>G
c.3775C>G (p.Gln1259Glu)
c.3016C>G (p.Gln1006Glu)
c.2104C>G (p.Gln702Glu)
c.3865C>G (p.Gln1289Glu)
n.6651C>G
c.3979C>G (p.Gln1327Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.48167579G=CA2220652444ABCC11c.3973C= (p.Gln1325=)
c.3859C= (p.Gln1287=)
n.1273C=
c.3775C= (p.Gln1259=)
c.3016C= (p.Gln1006=)
c.2104C= (p.Gln702=)
c.3865C= (p.Gln1289=)
n.6651C=
c.3979C= (p.Gln1327=)
16g.48167579G>TCA395804350ABCC11c.3973C>A (p.Gln1325Lys)
c.3859C>A (p.Gln1287Lys)
n.1273C>A
c.3775C>A (p.Gln1259Lys)
c.3016C>A (p.Gln1006Lys)
c.2104C>A (p.Gln702Lys)
c.3865C>A (p.Gln1289Lys)
n.6651C>A
c.3979C>A (p.Gln1327Lys)
16g.48167580G>ACA495442665ABCC11c.3972C>T (p.Phe1324=)
c.3858C>T (p.Phe1286=)
n.1272C>T
c.3774C>T (p.Phe1258=)
c.3015C>T (p.Phe1005=)
c.2103C>T (p.Phe701=)
c.3864C>T (p.Phe1288=)
n.6650C>T
c.3978C>T (p.Phe1326=)
16g.48167580G>CCA395804355ABCC11c.3972C>G (p.Phe1324Leu)
c.3858C>G (p.Phe1286Leu)
n.1272C>G
c.3774C>G (p.Phe1258Leu)
c.3015C>G (p.Phe1005Leu)
c.2103C>G (p.Phe701Leu)
c.3864C>G (p.Phe1288Leu)
n.6650C>G
c.3978C>G (p.Phe1326Leu)
16g.48167580G>TCA395804358ABCC11c.3972C>A (p.Phe1324Leu)
c.3858C>A (p.Phe1286Leu)
n.1272C>A
c.3774C>A (p.Phe1258Leu)
c.3015C>A (p.Phe1005Leu)
c.2103C>A (p.Phe701Leu)
c.3864C>A (p.Phe1288Leu)
n.6650C>A
c.3978C>A (p.Phe1326Leu)
 dbSNP
16g.48167581A=CA2220652447ABCC11c.3971T= (p.Phe1324=)
c.3857T= (p.Phe1286=)
n.1271T=
c.3773T= (p.Phe1258=)
c.3014T= (p.Phe1005=)
c.2102T= (p.Phe701=)
c.3863T= (p.Phe1288=)
n.6649T=
c.3977T= (p.Phe1326=)
16g.48167581A>CCA395804361ABCC11c.3971T>G (p.Phe1324Cys)
c.3857T>G (p.Phe1286Cys)
n.1271T>G
c.3773T>G (p.Phe1258Cys)
c.3014T>G (p.Phe1005Cys)
c.2102T>G (p.Phe701Cys)
c.3863T>G (p.Phe1288Cys)
n.6649T>G
c.3977T>G (p.Phe1326Cys)
16g.48167581A>GCA8042961ABCC11c.3971T>C (p.Phe1324Ser)
c.3857T>C (p.Phe1286Ser)
n.1271T>C
c.3773T>C (p.Phe1258Ser)
c.3014T>C (p.Phe1005Ser)
c.2102T>C (p.Phe701Ser)
c.3863T>C (p.Phe1288Ser)
n.6649T>C
c.3977T>C (p.Phe1326Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.48167581A>TCA395804364ABCC11c.3971T>A (p.Phe1324Tyr)
c.3857T>A (p.Phe1286Tyr)
n.1271T>A
c.3773T>A (p.Phe1258Tyr)
c.3014T>A (p.Phe1005Tyr)
c.2102T>A (p.Phe701Tyr)
c.3863T>A (p.Phe1288Tyr)
n.6649T>A
c.3977T>A (p.Phe1326Tyr)
 dbSNP
16g.48167582A>CCA395804367ABCC11c.3970T>G (p.Phe1324Val)
c.3856T>G (p.Phe1286Val)
n.1270T>G
c.3772T>G (p.Phe1258Val)
c.3013T>G (p.Phe1005Val)
c.2101T>G (p.Phe701Val)
c.3862T>G (p.Phe1288Val)
n.6648T>G
c.3976T>G (p.Phe1326Val)
16g.48167582A>GCA395804369ABCC11c.3970T>C (p.Phe1324Leu)
c.3856T>C (p.Phe1286Leu)
n.1270T>C
c.3772T>C (p.Phe1258Leu)
c.3013T>C (p.Phe1005Leu)
c.2101T>C (p.Phe701Leu)
c.3862T>C (p.Phe1288Leu)
n.6648T>C
c.3976T>C (p.Phe1326Leu)
16g.48167582A>TCA395804372ABCC11c.3970T>A (p.Phe1324Ile)
c.3856T>A (p.Phe1286Ile)
n.1270T>A
c.3772T>A (p.Phe1258Ile)
c.3013T>A (p.Phe1005Ile)
c.2101T>A (p.Phe701Ile)
c.3862T>A (p.Phe1288Ile)
n.6648T>A
c.3976T>A (p.Phe1326Ile)
16g.48167583G>ACA495442666ABCC11c.3969C>T (p.Ala1323=)
c.3855C>T (p.Ala1285=)
n.1269C>T
c.3771C>T (p.Ala1257=)
c.3012C>T (p.Ala1004=)
c.2100C>T (p.Ala700=)
c.3861C>T (p.Ala1287=)
n.6647C>T
c.3975C>T (p.Ala1325=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.48167583G>CCA495442667ABCC11c.3969C>G (p.Ala1323=)
c.3855C>G (p.Ala1285=)
n.1269C>G
c.3771C>G (p.Ala1257=)
c.3012C>G (p.Ala1004=)
c.2100C>G (p.Ala700=)
c.3861C>G (p.Ala1287=)
n.6647C>G
c.3975C>G (p.Ala1325=)
16g.48167583G=CA2220652456ABCC11c.3969C= (p.Ala1323=)
c.3855C= (p.Ala1285=)
n.1269C=
c.3771C= (p.Ala1257=)
c.3012C= (p.Ala1004=)
c.2100C= (p.Ala700=)
c.3861C= (p.Ala1287=)
n.6647C=
c.3975C= (p.Ala1325=)
16g.48167583G>TCA495442668ABCC11c.3969C>A (p.Ala1323=)
c.3855C>A (p.Ala1285=)
n.1269C>A
c.3771C>A (p.Ala1257=)
c.3012C>A (p.Ala1004=)
c.2100C>A (p.Ala700=)
c.3861C>A (p.Ala1287=)
n.6647C>A
c.3975C>A (p.Ala1325=)
16g.48167584G>ACA395804375ABCC11c.3968C>T (p.Ala1323Val)
c.3854C>T (p.Ala1285Val)
n.1268C>T
c.3770C>T (p.Ala1257Val)
c.3011C>T (p.Ala1004Val)
c.2099C>T (p.Ala700Val)
c.3860C>T (p.Ala1287Val)
n.6646C>T
c.3974C>T (p.Ala1325Val)
 dbSNP
16g.48167584G>CCA395804377ABCC11c.3968C>G (p.Ala1323Gly)
c.3854C>G (p.Ala1285Gly)
n.1268C>G
c.3770C>G (p.Ala1257Gly)
c.3011C>G (p.Ala1004Gly)
c.2099C>G (p.Ala700Gly)
c.3860C>G (p.Ala1287Gly)
n.6646C>G
c.3974C>G (p.Ala1325Gly)
 gnomAD v4
16g.48167584G=CA2220652472ABCC11c.3968C= (p.Ala1323=)
c.3854C= (p.Ala1285=)
n.1268C=
c.3770C= (p.Ala1257=)
c.3011C= (p.Ala1004=)
c.2099C= (p.Ala700=)
c.3860C= (p.Ala1287=)
n.6646C=
c.3974C= (p.Ala1325=)
16g.48167584G>TCA395804381ABCC11c.3968C>A (p.Ala1323Asp)
c.3854C>A (p.Ala1285Asp)
n.1268C>A
c.3770C>A (p.Ala1257Asp)
c.3011C>A (p.Ala1004Asp)
c.2099C>A (p.Ala700Asp)
c.3860C>A (p.Ala1287Asp)
n.6646C>A
c.3974C>A (p.Ala1325Asp)
 dbSNP gnomAD v2 gnomAD v4
16g.48167585C>ACA395804389ABCC11c.3967G>T (p.Ala1323Ser)
c.3853G>T (p.Ala1285Ser)
n.1267G>T
c.3769G>T (p.Ala1257Ser)
c.3010G>T (p.Ala1004Ser)
c.2098G>T (p.Ala700Ser)
c.3859G>T (p.Ala1287Ser)
n.6645G>T
c.3973G>T (p.Ala1325Ser)
16g.48167585C=CA2220652490ABCC11c.3967G= (p.Ala1323=)
c.3853G= (p.Ala1285=)
n.1267G=
c.3769G= (p.Ala1257=)
c.3010G= (p.Ala1004=)
c.2098G= (p.Ala700=)
c.3859G= (p.Ala1287=)
n.6645G=
c.3973G= (p.Ala1325=)
16g.48167585C>GCA395804392ABCC11c.3967G>C (p.Ala1323Pro)
c.3853G>C (p.Ala1285Pro)
n.1267G>C
c.3769G>C (p.Ala1257Pro)
c.3010G>C (p.Ala1004Pro)
c.2098G>C (p.Ala700Pro)
c.3859G>C (p.Ala1287Pro)
n.6645G>C
c.3973G>C (p.Ala1325Pro)
 gnomAD v4
16g.48167585C>TCA395804385ABCC11c.3967G>A (p.Ala1323Thr)
c.3853G>A (p.Ala1285Thr)
n.1267G>A
c.3769G>A (p.Ala1257Thr)
c.3010G>A (p.Ala1004Thr)
c.2098G>A (p.Ala700Thr)
c.3859G>A (p.Ala1287Thr)
n.6645G>A
c.3973G>A (p.Ala1325Thr)
 dbSNP
16g.48167586T>ACA395804396ABCC11c.3966A>T (p.Glu1322Asp)
c.3852A>T (p.Glu1284Asp)
n.1266A>T
c.3768A>T (p.Glu1256Asp)
c.3009A>T (p.Glu1003Asp)
c.2097A>T (p.Glu699Asp)
c.3858A>T (p.Glu1286Asp)
n.6644A>T
c.3972A>T (p.Glu1324Asp)
16g.48167586T>CCA495442669ABCC11c.3966A>G (p.Glu1322=)
c.3852A>G (p.Glu1284=)
n.1266A>G
c.3768A>G (p.Glu1256=)
c.3009A>G (p.Glu1003=)
c.2097A>G (p.Glu699=)
c.3858A>G (p.Glu1286=)
n.6644A>G
c.3972A>G (p.Glu1324=)
16g.48167586T>GCA395804398ABCC11c.3966A>C (p.Glu1322Asp)
c.3852A>C (p.Glu1284Asp)
n.1266A>C
c.3768A>C (p.Glu1256Asp)
c.3009A>C (p.Glu1003Asp)
c.2097A>C (p.Glu699Asp)
c.3858A>C (p.Glu1286Asp)
n.6644A>C
c.3972A>C (p.Glu1324Asp)
16g.48167586_48167613delinsTTCACGGATTGTGCGCTGGATCAGGGTGCA2220652495ABCC11c.3939_3966delinsCACCCTGATCCAGCGCACAATCCGTGAA (p.Asp1313=)
c.3825_3852delinsCACCCTGATCCAGCGCACAATCCGTGAA (p.Asp1275=)
n.1239_1266delinsCACCCTGATCCAGCGCACAATCCGTGAA
c.3741_3768delinsCACCCTGATCCAGCGCACAATCCGTGAA (p.Asp1247=)
c.2982_3009delinsCACCCTGATCCAGCGCACAATCCGTGAA (p.Asp994=)
c.2070_2097delinsCACCCTGATCCAGCGCACAATCCGTGAA (p.Asp690=)
c.3831_3858delinsCACCCTGATCCAGCGCACAATCCGTGAA (p.Asp1277=)
n.6617_6644delinsCACCCTGATCCAGCGCACAATCCGTGAA
c.3945_3972delinsCACCCTGATCCAGCGCACAATCCGTGAA (p.Asp1315=)
16g.48167587T>ACA395804400ABCC11c.3965A>T (p.Glu1322Val)
c.3851A>T (p.Glu1284Val)
n.1265A>T
c.3767A>T (p.Glu1256Val)
c.3008A>T (p.Glu1003Val)
c.2096A>T (p.Glu699Val)
c.3857A>T (p.Glu1286Val)
n.6643A>T
c.3971A>T (p.Glu1324Val)
16g.48167587T>CCA395804405ABCC11c.3965A>G (p.Glu1322Gly)
c.3851A>G (p.Glu1284Gly)
n.1265A>G
c.3767A>G (p.Glu1256Gly)
c.3008A>G (p.Glu1003Gly)
c.2096A>G (p.Glu699Gly)
c.3857A>G (p.Glu1286Gly)
n.6643A>G
c.3971A>G (p.Glu1324Gly)
16g.48167587T>GCA395804407ABCC11c.3965A>C (p.Glu1322Ala)
c.3851A>C (p.Glu1284Ala)
n.1265A>C
c.3767A>C (p.Glu1256Ala)
c.3008A>C (p.Glu1003Ala)
c.2096A>C (p.Glu699Ala)
c.3857A>C (p.Glu1286Ala)
n.6643A>C
c.3971A>C (p.Glu1324Ala)
16g.48167589_48167615dupCA2220652502ABCC11c.3939_3965dup (p.Arg1321_Glu1322insAspThrLeuIleGlnArgThrIleArg)
c.3825_3851dup (p.Arg1283_Glu1284insAspThrLeuIleGlnArgThrIleArg)
n.1239_1265dup
c.3741_3767dup (p.Arg1255_Glu1256insAspThrLeuIleGlnArgThrIleArg)
c.2982_3008dup (p.Arg1002_Glu1003insAspThrLeuIleGlnArgThrIleArg)
c.2070_2096dup (p.Arg698_Glu699insAspThrLeuIleGlnArgThrIleArg)
c.3831_3857dup (p.Arg1285_Glu1286insAspThrLeuIleGlnArgThrIleArg)
n.6617_6643dup
c.3945_3971dup (p.Arg1323_Glu1324insAspThrLeuIleGlnArgThrIleArg)
 dbSNP
16g.48167589_48167615delCA116355ABCC11c.3939_3965del (p.Asp1313_Arg1321del)
c.3825_3851del (p.Asp1275_Arg1283del)
n.1239_1265del
c.3741_3767del (p.Asp1247_Arg1255del)
c.2982_3008del (p.Asp994_Arg1002del)
c.2070_2096del (p.Asp690_Arg698del)
c.3831_3857del (p.Asp1277_Arg1285del)
n.6617_6643del
c.3945_3971del (p.Asp1315_Arg1323del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.48167588C>ACA395804409ABCC11c.3964G>T (p.Glu1322Ter)
c.3850G>T (p.Glu1284Ter)
n.1264G>T
c.3766G>T (p.Glu1256Ter)
c.3007G>T (p.Glu1003Ter)
c.2095G>T (p.Glu699Ter)
c.3856G>T (p.Glu1286Ter)
n.6642G>T
c.3970G>T (p.Glu1324Ter)
16g.48167588C>GCA395804410ABCC11c.3964G>C (p.Glu1322Gln)
c.3850G>C (p.Glu1284Gln)
n.1264G>C
c.3766G>C (p.Glu1256Gln)
c.3007G>C (p.Glu1003Gln)
c.2095G>C (p.Glu699Gln)
c.3856G>C (p.Glu1286Gln)
n.6642G>C
c.3970G>C (p.Glu1324Gln)
 dbSNP
16g.48167588C>TCA395804412ABCC11c.3964G>A (p.Glu1322Lys)
c.3850G>A (p.Glu1284Lys)
n.1264G>A
c.3766G>A (p.Glu1256Lys)
c.3007G>A (p.Glu1003Lys)
c.2095G>A (p.Glu699Lys)
c.3856G>A (p.Glu1286Lys)
n.6642G>A
c.3970G>A (p.Glu1324Lys)
16g.48167589A>CCA495442671ABCC11c.3963T>G (p.Arg1321=)
c.3849T>G (p.Arg1283=)
n.1263T>G
c.3765T>G (p.Arg1255=)
c.3006T>G (p.Arg1002=)
c.2094T>G (p.Arg698=)
c.3855T>G (p.Arg1285=)
n.6641T>G
c.3969T>G (p.Arg1323=)
16g.48167589A>GCA495442672ABCC11c.3963T>C (p.Arg1321=)
c.3849T>C (p.Arg1283=)
n.1263T>C
c.3765T>C (p.Arg1255=)
c.3006T>C (p.Arg1002=)
c.2094T>C (p.Arg698=)
c.3855T>C (p.Arg1285=)
n.6641T>C
c.3969T>C (p.Arg1323=)
16g.48167589A>TCA495442670ABCC11c.3963T>A (p.Arg1321=)
c.3849T>A (p.Arg1283=)
n.1263T>A
c.3765T>A (p.Arg1255=)
c.3006T>A (p.Arg1002=)
c.2094T>A (p.Arg698=)
c.3855T>A (p.Arg1285=)
n.6641T>A
c.3969T>A (p.Arg1323=)
16g.48167590C>ACA395804415ABCC11c.3962G>T (p.Arg1321Leu)
c.3848G>T (p.Arg1283Leu)
n.1262G>T
c.3764G>T (p.Arg1255Leu)
c.3005G>T (p.Arg1002Leu)
c.2093G>T (p.Arg698Leu)
c.3854G>T (p.Arg1285Leu)
n.6640G>T
c.3968G>T (p.Arg1323Leu)
 dbSNP gnomAD v3 gnomAD v4
16g.48167590C=CA2220652505ABCC11c.3962G= (p.Arg1321=)
c.3848G= (p.Arg1283=)
n.1262G=
c.3764G= (p.Arg1255=)
c.3005G= (p.Arg1002=)
c.2093G= (p.Arg698=)
c.3854G= (p.Arg1285=)
n.6640G=
c.3968G= (p.Arg1323=)
16g.48167590C>GCA395804417ABCC11c.3962G>C (p.Arg1321Pro)
c.3848G>C (p.Arg1283Pro)
n.1262G>C
c.3764G>C (p.Arg1255Pro)
c.3005G>C (p.Arg1002Pro)
c.2093G>C (p.Arg698Pro)
c.3854G>C (p.Arg1285Pro)
n.6640G>C
c.3968G>C (p.Arg1323Pro)
 dbSNP
16g.48167590C>TCA8042962ABCC11c.3962G>A (p.Arg1321His)
c.3848G>A (p.Arg1283His)
n.1262G>A
c.3764G>A (p.Arg1255His)
c.3005G>A (p.Arg1002His)
c.2093G>A (p.Arg698His)
c.3854G>A (p.Arg1285His)
n.6640G>A
c.3968G>A (p.Arg1323His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.48167591G>ACA8042964ABCC11c.3961C>T (p.Arg1321Cys)
c.3847C>T (p.Arg1283Cys)
n.1261C>T
c.3763C>T (p.Arg1255Cys)
c.3004C>T (p.Arg1002Cys)
c.2092C>T (p.Arg698Cys)
c.3853C>T (p.Arg1285Cys)
n.6639C>T
c.3967C>T (p.Arg1323Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.48167591G>CCA8042963ABCC11c.3961C>G (p.Arg1321Gly)
c.3847C>G (p.Arg1283Gly)
n.1261C>G
c.3763C>G (p.Arg1255Gly)
c.3004C>G (p.Arg1002Gly)
c.2092C>G (p.Arg698Gly)
c.3853C>G (p.Arg1285Gly)
n.6639C>G
c.3967C>G (p.Arg1323Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.48167591G=CA2220652516ABCC11c.3961C= (p.Arg1321=)
c.3847C= (p.Arg1283=)
n.1261C=
c.3763C= (p.Arg1255=)
c.3004C= (p.Arg1002=)
c.2092C= (p.Arg698=)
c.3853C= (p.Arg1285=)
n.6639C=
c.3967C= (p.Arg1323=)
16g.48167591G>TCA280260613ABCC11c.3961C>A (p.Arg1321Ser)
c.3847C>A (p.Arg1283Ser)
n.1261C>A
c.3763C>A (p.Arg1255Ser)
c.3004C>A (p.Arg1002Ser)
c.2092C>A (p.Arg698Ser)
c.3853C>A (p.Arg1285Ser)
n.6639C>A
c.3967C>A (p.Arg1323Ser)
 dbSNP
16g.48167592G>ACA495442673ABCC11c.3960C>T (p.Ile1320=)
c.3846C>T (p.Ile1282=)
n.1260C>T
c.3762C>T (p.Ile1254=)
c.3003C>T (p.Ile1001=)
c.2091C>T (p.Ile697=)
c.3852C>T (p.Ile1284=)
n.6638C>T
c.3966C>T (p.Ile1322=)
16g.48167592G>CCA395804423ABCC11c.3960C>G (p.Ile1320Met)
c.3846C>G (p.Ile1282Met)
n.1260C>G
c.3762C>G (p.Ile1254Met)
c.3003C>G (p.Ile1001Met)
c.2091C>G (p.Ile697Met)
c.3852C>G (p.Ile1284Met)
n.6638C>G
c.3966C>G (p.Ile1322Met)
16g.48167592G=CA2220652525ABCC11c.3960C= (p.Ile1320=)
c.3846C= (p.Ile1282=)
n.1260C=
c.3762C= (p.Ile1254=)
c.3003C= (p.Ile1001=)
c.2091C= (p.Ile697=)
c.3852C= (p.Ile1284=)
n.6638C=
c.3966C= (p.Ile1322=)
16g.48167592G>TCA8042965ABCC11c.3960C>A (p.Ile1320=)
c.3846C>A (p.Ile1282=)
n.1260C>A
c.3762C>A (p.Ile1254=)
c.3003C>A (p.Ile1001=)
c.2091C>A (p.Ile697=)
c.3852C>A (p.Ile1284=)
n.6638C>A
c.3966C>A (p.Ile1322=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.48167593A>CCA395804427ABCC11c.3959T>G (p.Ile1320Ser)
c.3845T>G (p.Ile1282Ser)
n.1259T>G
c.3761T>G (p.Ile1254Ser)
c.3002T>G (p.Ile1001Ser)
c.2090T>G (p.Ile697Ser)
c.3851T>G (p.Ile1284Ser)
n.6637T>G
c.3965T>G (p.Ile1322Ser)
16g.48167593A>GCA395804430ABCC11c.3959T>C (p.Ile1320Thr)
c.3845T>C (p.Ile1282Thr)
n.1259T>C
c.3761T>C (p.Ile1254Thr)
c.3002T>C (p.Ile1001Thr)
c.2090T>C (p.Ile697Thr)
c.3851T>C (p.Ile1284Thr)
n.6637T>C
c.3965T>C (p.Ile1322Thr)
16g.48167593A>TCA395804428ABCC11c.3959T>A (p.Ile1320Asn)
c.3845T>A (p.Ile1282Asn)
n.1259T>A
c.3761T>A (p.Ile1254Asn)
c.3002T>A (p.Ile1001Asn)
c.2090T>A (p.Ile697Asn)
c.3851T>A (p.Ile1284Asn)
n.6637T>A
c.3965T>A (p.Ile1322Asn)
 COSMIC
16g.48167594T>ACA395804433ABCC11c.3958A>T (p.Ile1320Phe)
c.3844A>T (p.Ile1282Phe)
n.1258A>T
c.3760A>T (p.Ile1254Phe)
c.3001A>T (p.Ile1001Phe)
c.2089A>T (p.Ile697Phe)
c.3850A>T (p.Ile1284Phe)
n.6636A>T
c.3964A>T (p.Ile1322Phe)
16g.48167594T>CCA395804434ABCC11c.3958A>G (p.Ile1320Val)
c.3844A>G (p.Ile1282Val)
n.1258A>G
c.3760A>G (p.Ile1254Val)
c.3001A>G (p.Ile1001Val)
c.2089A>G (p.Ile697Val)
c.3850A>G (p.Ile1284Val)
n.6636A>G
c.3964A>G (p.Ile1322Val)
 dbSNP gnomAD v2 gnomAD v4
16g.48167594T>GCA395804437ABCC11c.3958A>C (p.Ile1320Leu)
c.3844A>C (p.Ile1282Leu)
n.1258A>C
c.3760A>C (p.Ile1254Leu)
c.3001A>C (p.Ile1001Leu)
c.2089A>C (p.Ile697Leu)
c.3850A>C (p.Ile1284Leu)
n.6636A>C
c.3964A>C (p.Ile1322Leu)
16g.48167594T=CA2220652534ABCC11c.3958A= (p.Ile1320=)
c.3844A= (p.Ile1282=)
n.1258A=
c.3760A= (p.Ile1254=)
c.3001A= (p.Ile1001=)
c.2089A= (p.Ile697=)
c.3850A= (p.Ile1284=)
n.6636A=
c.3964A= (p.Ile1322=)
16g.48167595T>ACA495442674ABCC11c.3957A>T (p.Thr1319=)
c.3843A>T (p.Thr1281=)
n.1257A>T
c.3759A>T (p.Thr1253=)
c.3000A>T (p.Thr1000=)
c.2088A>T (p.Thr696=)
c.3849A>T (p.Thr1283=)
n.6635A>T
c.3963A>T (p.Thr1321=)
16g.48167595T>CCA495442675ABCC11c.3957A>G (p.Thr1319=)
c.3843A>G (p.Thr1281=)
n.1257A>G
c.3759A>G (p.Thr1253=)
c.3000A>G (p.Thr1000=)
c.2088A>G (p.Thr696=)
c.3849A>G (p.Thr1283=)
n.6635A>G
c.3963A>G (p.Thr1321=)
16g.48167595T>GCA495442676ABCC11c.3957A>C (p.Thr1319=)
c.3843A>C (p.Thr1281=)
n.1257A>C
c.3759A>C (p.Thr1253=)
c.3000A>C (p.Thr1000=)
c.2088A>C (p.Thr696=)
c.3849A>C (p.Thr1283=)
n.6635A>C
c.3963A>C (p.Thr1321=)
16g.48167596G>ACA8042967ABCC11c.3956C>T (p.Thr1319Ile)
c.3842C>T (p.Thr1281Ile)
n.1256C>T
c.3758C>T (p.Thr1253Ile)
c.2999C>T (p.Thr1000Ile)
c.2087C>T (p.Thr696Ile)
c.3848C>T (p.Thr1283Ile)
n.6634C>T
c.3962C>T (p.Thr1321Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.48167596G>CCA395804440ABCC11c.3956C>G (p.Thr1319Arg)
c.3842C>G (p.Thr1281Arg)
n.1256C>G
c.3758C>G (p.Thr1253Arg)
c.2999C>G (p.Thr1000Arg)
c.2087C>G (p.Thr696Arg)
c.3848C>G (p.Thr1283Arg)
n.6634C>G
c.3962C>G (p.Thr1321Arg)
 dbSNP gnomAD v4
16g.48167596G=CA2220652544ABCC11c.3956C= (p.Thr1319=)
c.3842C= (p.Thr1281=)
n.1256C=
c.3758C= (p.Thr1253=)
c.2999C= (p.Thr1000=)
c.2087C= (p.Thr696=)
c.3848C= (p.Thr1283=)
n.6634C=
c.3962C= (p.Thr1321=)
16g.48167596G>TCA8042966ABCC11c.3956C>A (p.Thr1319Lys)
c.3842C>A (p.Thr1281Lys)
n.1256C>A
c.3758C>A (p.Thr1253Lys)
c.2999C>A (p.Thr1000Lys)
c.2087C>A (p.Thr696Lys)
c.3848C>A (p.Thr1283Lys)
n.6634C>A
c.3962C>A (p.Thr1321Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.48167597T>ACA395804444ABCC11c.3955A>T (p.Thr1319Ser)
c.3841A>T (p.Thr1281Ser)
n.1255A>T
c.3757A>T (p.Thr1253Ser)
c.2998A>T (p.Thr1000Ser)
c.2086A>T (p.Thr696Ser)
c.3847A>T (p.Thr1283Ser)
n.6633A>T
c.3961A>T (p.Thr1321Ser)
16g.48167597T>CCA395804445ABCC11c.3955A>G (p.Thr1319Ala)
c.3841A>G (p.Thr1281Ala)
n.1255A>G
c.3757A>G (p.Thr1253Ala)
c.2998A>G (p.Thr1000Ala)
c.2086A>G (p.Thr696Ala)
c.3847A>G (p.Thr1283Ala)
n.6633A>G
c.3961A>G (p.Thr1321Ala)
16g.48167597T>GCA395804447ABCC11c.3955A>C (p.Thr1319Pro)
c.3841A>C (p.Thr1281Pro)
n.1255A>C
c.3757A>C (p.Thr1253Pro)
c.2998A>C (p.Thr1000Pro)
c.2086A>C (p.Thr696Pro)
c.3847A>C (p.Thr1283Pro)
n.6633A>C
c.3961A>C (p.Thr1321Pro)
16g.48167598G>ACA280260643ABCC11c.3954C>T (p.Arg1318=)
c.3840C>T (p.Arg1280=)
n.1254C>T
c.3756C>T (p.Arg1252=)
c.2997C>T (p.Arg999=)
c.2085C>T (p.Arg695=)
c.3846C>T (p.Arg1282=)
n.6632C>T
c.3960C>T (p.Arg1320=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.48167598G>CCA495442677ABCC11c.3954C>G (p.Arg1318=)
c.3840C>G (p.Arg1280=)
n.1254C>G
c.3756C>G (p.Arg1252=)
c.2997C>G (p.Arg999=)
c.2085C>G (p.Arg695=)
c.3846C>G (p.Arg1282=)
n.6632C>G
c.3960C>G (p.Arg1320=)
16g.48167598G=CA2220652553ABCC11c.3954C= (p.Arg1318=)
c.3840C= (p.Arg1280=)
n.1254C=
c.3756C= (p.Arg1252=)
c.2997C= (p.Arg999=)
c.2085C= (p.Arg695=)
c.3846C= (p.Arg1282=)
n.6632C=
c.3960C= (p.Arg1320=)
16g.48167598G>TCA495442678ABCC11c.3954C>A (p.Arg1318=)
c.3840C>A (p.Arg1280=)
n.1254C>A
c.3756C>A (p.Arg1252=)
c.2997C>A (p.Arg999=)
c.2085C>A (p.Arg695=)
c.3846C>A (p.Arg1282=)
n.6632C>A
c.3960C>A (p.Arg1320=)
16g.48167599C>ACA395804456ABCC11c.3953G>T (p.Arg1318Leu)
c.3839G>T (p.Arg1280Leu)
n.1253G>T
c.3755G>T (p.Arg1252Leu)
c.2996G>T (p.Arg999Leu)
c.2084G>T (p.Arg695Leu)
c.3845G>T (p.Arg1282Leu)
n.6631G>T
c.3959G>T (p.Arg1320Leu)
16g.48167599C=CA2220652563ABCC11c.3953G= (p.Arg1318=)
c.3839G= (p.Arg1280=)
n.1253G=
c.3755G= (p.Arg1252=)
c.2996G= (p.Arg999=)
c.2084G= (p.Arg695=)
c.3845G= (p.Arg1282=)
n.6631G=
c.3959G= (p.Arg1320=)
16g.48167599C>GCA395804459ABCC11c.3953G>C (p.Arg1318Pro)
c.3839G>C (p.Arg1280Pro)
n.1253G>C
c.3755G>C (p.Arg1252Pro)
c.2996G>C (p.Arg999Pro)
c.2084G>C (p.Arg695Pro)
c.3845G>C (p.Arg1282Pro)
n.6631G>C
c.3959G>C (p.Arg1320Pro)
16g.48167599C>TCA8042968ABCC11c.3953G>A (p.Arg1318His)
c.3839G>A (p.Arg1280His)
n.1253G>A
c.3755G>A (p.Arg1252His)
c.2996G>A (p.Arg999His)
c.2084G>A (p.Arg695His)
c.3845G>A (p.Arg1282His)
n.6631G>A
c.3959G>A (p.Arg1320His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.48167600G>ACA8042969ABCC11c.3952C>T (p.Arg1318Cys)
c.3838C>T (p.Arg1280Cys)
n.1252C>T
c.3754C>T (p.Arg1252Cys)
c.2995C>T (p.Arg999Cys)
c.2083C>T (p.Arg695Cys)
c.3844C>T (p.Arg1282Cys)
n.6630C>T
c.3958C>T (p.Arg1320Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.48167600G>CCA395804463ABCC11c.3952C>G (p.Arg1318Gly)
c.3838C>G (p.Arg1280Gly)
n.1252C>G
c.3754C>G (p.Arg1252Gly)
c.2995C>G (p.Arg999Gly)
c.2083C>G (p.Arg695Gly)
c.3844C>G (p.Arg1282Gly)
n.6630C>G
c.3958C>G (p.Arg1320Gly)
16g.48167600G=CA2220652567ABCC11c.3952C= (p.Arg1318=)
c.3838C= (p.Arg1280=)
n.1252C=
c.3754C= (p.Arg1252=)
c.2995C= (p.Arg999=)
c.2083C= (p.Arg695=)
c.3844C= (p.Arg1282=)
n.6630C=
c.3958C= (p.Arg1320=)
16g.48167600G>TCA395804465ABCC11c.3952C>A (p.Arg1318Ser)
c.3838C>A (p.Arg1280Ser)
n.1252C>A
c.3754C>A (p.Arg1252Ser)
c.2995C>A (p.Arg999Ser)
c.2083C>A (p.Arg695Ser)
c.3844C>A (p.Arg1282Ser)
n.6630C>A
c.3958C>A (p.Arg1320Ser)
 dbSNP gnomAD v2 gnomAD v4
16g.48167601C>ACA395804468ABCC11c.3951G>T (p.Gln1317His)
c.3837G>T (p.Gln1279His)
n.1251G>T
c.3753G>T (p.Gln1251His)
c.2994G>T (p.Gln998His)
c.2082G>T (p.Gln694His)
c.3843G>T (p.Gln1281His)
n.6629G>T
c.3957G>T (p.Gln1319His)
 gnomAD v4
16g.48167601C>GCA395804471ABCC11c.3951G>C (p.Gln1317His)
c.3837G>C (p.Gln1279His)
n.1251G>C
c.3753G>C (p.Gln1251His)
c.2994G>C (p.Gln998His)
c.2082G>C (p.Gln694His)
c.3843G>C (p.Gln1281His)
n.6629G>C
c.3957G>C (p.Gln1319His)
16g.48167601C>TCA495442679ABCC11c.3951G>A (p.Gln1317=)
c.3837G>A (p.Gln1279=)
n.1251G>A
c.3753G>A (p.Gln1251=)
c.2994G>A (p.Gln998=)
c.2082G>A (p.Gln694=)
c.3843G>A (p.Gln1281=)
n.6629G>A
c.3957G>A (p.Gln1319=)
 gnomAD v4 COSMIC

Number of alleles fetched