Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)

Number of alleles fetched