Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38872215A=CA1358707889SCN11Ac.3473T= (p.Leu1158=)
c.3527T= (n.3527T=)
c.3293T= (p.Leu1098=)
c.3517T= (n.3517T=)
c.3092T= (p.Leu1031=)
c.3359T= (p.Leu1120=)
c.2810T= (p.Leu937=)
c.2021T= (p.Leu674=)
c.3848T= (p.Leu1283=)
c.3275T= (p.Leu1092=)
c.3200T= (p.Leu1067=)
c.1877T= (p.Leu626=)
3g.38872215A>CCA352171297SCN11Ac.3473T>G (p.Leu1158Arg)
c.3527T>G (n.3527T>G)
c.3293T>G (p.Leu1098Arg)
c.3517T>G (n.3517T>G)
c.3092T>G (p.Leu1031Arg)
c.3359T>G (p.Leu1120Arg)
c.2810T>G (p.Leu937Arg)
c.2021T>G (p.Leu674Arg)
c.3848T>G (p.Leu1283Arg)
c.3275T>G (p.Leu1092Arg)
c.3200T>G (p.Leu1067Arg)
c.1877T>G (p.Leu626Arg)
3g.38872215A>GCA171012SCN11Ac.3473T>C (p.Leu1158Pro)
c.3527T>C (n.3527T>C)
c.3293T>C (p.Leu1098Pro)
c.3517T>C (n.3517T>C)
c.3092T>C (p.Leu1031Pro)
c.3359T>C (p.Leu1120Pro)
c.2810T>C (p.Leu937Pro)
c.2021T>C (p.Leu674Pro)
c.3848T>C (p.Leu1283Pro)
c.3275T>C (p.Leu1092Pro)
c.3200T>C (p.Leu1067Pro)
c.1877T>C (p.Leu626Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38872215A>TCA352171298SCN11Ac.3473T>A (p.Leu1158Gln)
c.3527T>A (n.3527T>A)
c.3293T>A (p.Leu1098Gln)
c.3517T>A (n.3517T>A)
c.3092T>A (p.Leu1031Gln)
c.3359T>A (p.Leu1120Gln)
c.2810T>A (p.Leu937Gln)
c.2021T>A (p.Leu674Gln)
c.3848T>A (p.Leu1283Gln)
c.3275T>A (p.Leu1092Gln)
c.3200T>A (p.Leu1067Gln)
c.1877T>A (p.Leu626Gln)
3g.38872216G>ACA433142050SCN11Ac.3472C>T (p.Leu1158=)
c.3526C>T (n.3526C>T)
c.3292C>T (p.Leu1098=)
c.3516C>T (n.3516C>T)
c.3091C>T (p.Leu1031=)
c.3358C>T (p.Leu1120=)
c.2809C>T (p.Leu937=)
c.2020C>T (p.Leu674=)
c.3847C>T (p.Leu1283=)
c.3274C>T (p.Leu1092=)
c.3199C>T (p.Leu1067=)
c.1876C>T (p.Leu626=)
3g.38872216G>CCA352171299SCN11Ac.3472C>G (p.Leu1158Val)
c.3526C>G (n.3526C>G)
c.3292C>G (p.Leu1098Val)
c.3516C>G (n.3516C>G)
c.3091C>G (p.Leu1031Val)
c.3358C>G (p.Leu1120Val)
c.2809C>G (p.Leu937Val)
c.2020C>G (p.Leu674Val)
c.3847C>G (p.Leu1283Val)
c.3274C>G (p.Leu1092Val)
c.3199C>G (p.Leu1067Val)
c.1876C>G (p.Leu626Val)
3g.38872216G>TCA352171300SCN11Ac.3472C>A (p.Leu1158Met)
c.3526C>A (n.3526C>A)
c.3292C>A (p.Leu1098Met)
c.3516C>A (n.3516C>A)
c.3091C>A (p.Leu1031Met)
c.3358C>A (p.Leu1120Met)
c.2809C>A (p.Leu937Met)
c.2020C>A (p.Leu674Met)
c.3847C>A (p.Leu1283Met)
c.3274C>A (p.Leu1092Met)
c.3199C>A (p.Leu1067Met)
c.1876C>A (p.Leu626Met)
 gnomAD v4
3g.38872217C>ACA433142051SCN11Ac.3471G>T (p.Ala1157=)
c.3525G>T (n.3525G>T)
c.3291G>T (p.Ala1097=)
c.3515G>T (n.3515G>T)
c.3090G>T (p.Ala1030=)
c.3357G>T (p.Ala1119=)
c.2808G>T (p.Ala936=)
c.2019G>T (p.Ala673=)
c.3846G>T (p.Ala1282=)
c.3273G>T (p.Ala1091=)
c.3198G>T (p.Ala1066=)
c.1875G>T (p.Ala625=)
3g.38872217C=CA1358707893SCN11Ac.3471G= (p.Ala1157=)
c.3525G= (n.3525G=)
c.3291G= (p.Ala1097=)
c.3515G= (n.3515G=)
c.3090G= (p.Ala1030=)
c.3357G= (p.Ala1119=)
c.2808G= (p.Ala936=)
c.2019G= (p.Ala673=)
c.3846G= (p.Ala1282=)
c.3273G= (p.Ala1091=)
c.3198G= (p.Ala1066=)
c.1875G= (p.Ala625=)
3g.38872217C>GCA433142052SCN11Ac.3471G>C (p.Ala1157=)
c.3525G>C (n.3525G>C)
c.3291G>C (p.Ala1097=)
c.3515G>C (n.3515G>C)
c.3090G>C (p.Ala1030=)
c.3357G>C (p.Ala1119=)
c.2808G>C (p.Ala936=)
c.2019G>C (p.Ala673=)
c.3846G>C (p.Ala1282=)
c.3273G>C (p.Ala1091=)
c.3198G>C (p.Ala1066=)
c.1875G>C (p.Ala625=)
3g.38872217C>TCA2321776SCN11Ac.3471G>A (p.Ala1157=)
c.3525G>A (n.3525G>A)
c.3291G>A (p.Ala1097=)
c.3515G>A (n.3515G>A)
c.3090G>A (p.Ala1030=)
c.3357G>A (p.Ala1119=)
c.2808G>A (p.Ala936=)
c.2019G>A (p.Ala673=)
c.3846G>A (p.Ala1282=)
c.3273G>A (p.Ala1091=)
c.3198G>A (p.Ala1066=)
c.1875G>A (p.Ala625=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38872218G>ACA352171301SCN11Ac.3470C>T (p.Ala1157Val)
c.3524C>T (n.3524C>T)
c.3290C>T (p.Ala1097Val)
c.3514C>T (n.3514C>T)
c.3089C>T (p.Ala1030Val)
c.3356C>T (p.Ala1119Val)
c.2807C>T (p.Ala936Val)
c.2018C>T (p.Ala673Val)
c.3845C>T (p.Ala1282Val)
c.3272C>T (p.Ala1091Val)
c.3197C>T (p.Ala1066Val)
c.1874C>T (p.Ala625Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.38872218G>CCA352171302SCN11Ac.3470C>G (p.Ala1157Gly)
c.3524C>G (n.3524C>G)
c.3290C>G (p.Ala1097Gly)
c.3514C>G (n.3514C>G)
c.3089C>G (p.Ala1030Gly)
c.3356C>G (p.Ala1119Gly)
c.2807C>G (p.Ala936Gly)
c.2018C>G (p.Ala673Gly)
c.3845C>G (p.Ala1282Gly)
c.3272C>G (p.Ala1091Gly)
c.3197C>G (p.Ala1066Gly)
c.1874C>G (p.Ala625Gly)
3g.38872218G=CA1358707902SCN11Ac.3470C= (p.Ala1157=)
c.3524C= (n.3524C=)
c.3290C= (p.Ala1097=)
c.3514C= (n.3514C=)
c.3089C= (p.Ala1030=)
c.3356C= (p.Ala1119=)
c.2807C= (p.Ala936=)
c.2018C= (p.Ala673=)
c.3845C= (p.Ala1282=)
c.3272C= (p.Ala1091=)
c.3197C= (p.Ala1066=)
c.1874C= (p.Ala625=)
3g.38872218G>TCA352171303SCN11Ac.3470C>A (p.Ala1157Glu)
c.3524C>A (n.3524C>A)
c.3290C>A (p.Ala1097Glu)
c.3514C>A (n.3514C>A)
c.3089C>A (p.Ala1030Glu)
c.3356C>A (p.Ala1119Glu)
c.2807C>A (p.Ala936Glu)
c.2018C>A (p.Ala673Glu)
c.3845C>A (p.Ala1282Glu)
c.3272C>A (p.Ala1091Glu)
c.3197C>A (p.Ala1066Glu)
c.1874C>A (p.Ala625Glu)
 gnomAD v4
3g.38872219C>ACA352171304SCN11Ac.3469G>T (p.Ala1157Ser)
c.3523G>T (n.3523G>T)
c.3289G>T (p.Ala1097Ser)
c.3513G>T (n.3513G>T)
c.3088G>T (p.Ala1030Ser)
c.3355G>T (p.Ala1119Ser)
c.2806G>T (p.Ala936Ser)
c.2017G>T (p.Ala673Ser)
c.3844G>T (p.Ala1282Ser)
c.3271G>T (p.Ala1091Ser)
c.3196G>T (p.Ala1066Ser)
c.1873G>T (p.Ala625Ser)
3g.38872219C=CA1358707904SCN11Ac.3469G= (p.Ala1157=)
c.3523G= (n.3523G=)
c.3289G= (p.Ala1097=)
c.3513G= (n.3513G=)
c.3088G= (p.Ala1030=)
c.3355G= (p.Ala1119=)
c.2806G= (p.Ala936=)
c.2017G= (p.Ala673=)
c.3844G= (p.Ala1282=)
c.3271G= (p.Ala1091=)
c.3196G= (p.Ala1066=)
c.1873G= (p.Ala625=)
3g.38872219C>GCA352171305SCN11Ac.3469G>C (p.Ala1157Pro)
c.3523G>C (n.3523G>C)
c.3289G>C (p.Ala1097Pro)
c.3513G>C (n.3513G>C)
c.3088G>C (p.Ala1030Pro)
c.3355G>C (p.Ala1119Pro)
c.2806G>C (p.Ala936Pro)
c.2017G>C (p.Ala673Pro)
c.3844G>C (p.Ala1282Pro)
c.3271G>C (p.Ala1091Pro)
c.3196G>C (p.Ala1066Pro)
c.1873G>C (p.Ala625Pro)
3g.38872219C>TCA352171306SCN11Ac.3469G>A (p.Ala1157Thr)
c.3523G>A (n.3523G>A)
c.3289G>A (p.Ala1097Thr)
c.3513G>A (n.3513G>A)
c.3088G>A (p.Ala1030Thr)
c.3355G>A (p.Ala1119Thr)
c.2806G>A (p.Ala936Thr)
c.2017G>A (p.Ala673Thr)
c.3844G>A (p.Ala1282Thr)
c.3271G>A (p.Ala1091Thr)
c.3196G>A (p.Ala1066Thr)
c.1873G>A (p.Ala625Thr)
 dbSNP
3g.38872220A>CCA433142053SCN11Ac.3468T>G (p.Arg1156=)
c.3522T>G (n.3522T>G)
c.3288T>G (p.Arg1096=)
c.3512T>G (n.3512T>G)
c.3087T>G (p.Arg1029=)
c.3354T>G (p.Arg1118=)
c.2805T>G (p.Arg935=)
c.2016T>G (p.Arg672=)
c.3843T>G (p.Arg1281=)
c.3270T>G (p.Arg1090=)
c.3195T>G (p.Arg1065=)
c.1872T>G (p.Arg624=)
3g.38872220A>GCA433142054SCN11Ac.3468T>C (p.Arg1156=)
c.3522T>C (n.3522T>C)
c.3288T>C (p.Arg1096=)
c.3512T>C (n.3512T>C)
c.3087T>C (p.Arg1029=)
c.3354T>C (p.Arg1118=)
c.2805T>C (p.Arg935=)
c.2016T>C (p.Arg672=)
c.3843T>C (p.Arg1281=)
c.3270T>C (p.Arg1090=)
c.3195T>C (p.Arg1065=)
c.1872T>C (p.Arg624=)
 gnomAD v4
3g.38872220A>TCA433142055SCN11Ac.3468T>A (p.Arg1156=)
c.3522T>A (n.3522T>A)
c.3288T>A (p.Arg1096=)
c.3512T>A (n.3512T>A)
c.3087T>A (p.Arg1029=)
c.3354T>A (p.Arg1118=)
c.2805T>A (p.Arg935=)
c.2016T>A (p.Arg672=)
c.3843T>A (p.Arg1281=)
c.3270T>A (p.Arg1090=)
c.3195T>A (p.Arg1065=)
c.1872T>A (p.Arg624=)
3g.38872221C>ACA2321778SCN11Ac.3467G>T (p.Arg1156Leu)
c.3521G>T (n.3521G>T)
c.3287G>T (p.Arg1096Leu)
c.3511G>T (n.3511G>T)
c.3086G>T (p.Arg1029Leu)
c.3353G>T (p.Arg1118Leu)
c.2804G>T (p.Arg935Leu)
c.2015G>T (p.Arg672Leu)
c.3842G>T (p.Arg1281Leu)
c.3269G>T (p.Arg1090Leu)
c.3194G>T (p.Arg1065Leu)
c.1871G>T (p.Arg624Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38872221C=CA1358707906SCN11Ac.3467G= (p.Arg1156=)
c.3521G= (n.3521G=)
c.3287G= (p.Arg1096=)
c.3511G= (n.3511G=)
c.3086G= (p.Arg1029=)
c.3353G= (p.Arg1118=)
c.2804G= (p.Arg935=)
c.2015G= (p.Arg672=)
c.3842G= (p.Arg1281=)
c.3269G= (p.Arg1090=)
c.3194G= (p.Arg1065=)
c.1871G= (p.Arg624=)
3g.38872221C>GCA352171307SCN11Ac.3467G>C (p.Arg1156Pro)
c.3521G>C (n.3521G>C)
c.3287G>C (p.Arg1096Pro)
c.3511G>C (n.3511G>C)
c.3086G>C (p.Arg1029Pro)
c.3353G>C (p.Arg1118Pro)
c.2804G>C (p.Arg935Pro)
c.2015G>C (p.Arg672Pro)
c.3842G>C (p.Arg1281Pro)
c.3269G>C (p.Arg1090Pro)
c.3194G>C (p.Arg1065Pro)
c.1871G>C (p.Arg624Pro)
3g.38872221C>TCA2321777SCN11Ac.3467G>A (p.Arg1156His)
c.3521G>A (n.3521G>A)
c.3287G>A (p.Arg1096His)
c.3511G>A (n.3511G>A)
c.3086G>A (p.Arg1029His)
c.3353G>A (p.Arg1118His)
c.2804G>A (p.Arg935His)
c.2015G>A (p.Arg672His)
c.3842G>A (p.Arg1281His)
c.3269G>A (p.Arg1090His)
c.3194G>A (p.Arg1065His)
c.1871G>A (p.Arg624His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.38872222G>ACA2321780SCN11Ac.3466C>T (p.Arg1156Cys)
c.3520C>T (n.3520C>T)
c.3286C>T (p.Arg1096Cys)
c.3510C>T (n.3510C>T)
c.3085C>T (p.Arg1029Cys)
c.3352C>T (p.Arg1118Cys)
c.2803C>T (p.Arg935Cys)
c.2014C>T (p.Arg672Cys)
c.3841C>T (p.Arg1281Cys)
c.3268C>T (p.Arg1090Cys)
c.3193C>T (p.Arg1065Cys)
c.1870C>T (p.Arg624Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38872222G>CCA2321779SCN11Ac.3466C>G (p.Arg1156Gly)
c.3520C>G (n.3520C>G)
c.3286C>G (p.Arg1096Gly)
c.3510C>G (n.3510C>G)
c.3085C>G (p.Arg1029Gly)
c.3352C>G (p.Arg1118Gly)
c.2803C>G (p.Arg935Gly)
c.2014C>G (p.Arg672Gly)
c.3841C>G (p.Arg1281Gly)
c.3268C>G (p.Arg1090Gly)
c.3193C>G (p.Arg1065Gly)
c.1870C>G (p.Arg624Gly)
 dbSNP ExAC gnomAD v2
3g.38872222G=CA1358707911SCN11Ac.3466C= (p.Arg1156=)
c.3520C= (n.3520C=)
c.3286C= (p.Arg1096=)
c.3510C= (n.3510C=)
c.3085C= (p.Arg1029=)
c.3352C= (p.Arg1118=)
c.2803C= (p.Arg935=)
c.2014C= (p.Arg672=)
c.3841C= (p.Arg1281=)
c.3268C= (p.Arg1090=)
c.3193C= (p.Arg1065=)
c.1870C= (p.Arg624=)
3g.38872222G>TCA352171308SCN11Ac.3466C>A (p.Arg1156Ser)
c.3520C>A (n.3520C>A)
c.3286C>A (p.Arg1096Ser)
c.3510C>A (n.3510C>A)
c.3085C>A (p.Arg1029Ser)
c.3352C>A (p.Arg1118Ser)
c.2803C>A (p.Arg935Ser)
c.2014C>A (p.Arg672Ser)
c.3841C>A (p.Arg1281Ser)
c.3268C>A (p.Arg1090Ser)
c.3193C>A (p.Arg1065Ser)
c.1870C>A (p.Arg624Ser)
 gnomAD v4
3g.38872223A>CCA433142056SCN11Ac.3465T>G (p.Leu1155=)
c.3519T>G (n.3519T>G)
c.3285T>G (p.Leu1095=)
c.3509T>G (n.3509T>G)
c.3084T>G (p.Leu1028=)
c.3351T>G (p.Leu1117=)
c.2802T>G (p.Leu934=)
c.2013T>G (p.Leu671=)
c.3840T>G (p.Leu1280=)
c.3267T>G (p.Leu1089=)
c.3192T>G (p.Leu1064=)
c.1869T>G (p.Leu623=)
3g.38872223A>GCA433142057SCN11Ac.3465T>C (p.Leu1155=)
c.3519T>C (n.3519T>C)
c.3285T>C (p.Leu1095=)
c.3509T>C (n.3509T>C)
c.3084T>C (p.Leu1028=)
c.3351T>C (p.Leu1117=)
c.2802T>C (p.Leu934=)
c.2013T>C (p.Leu671=)
c.3840T>C (p.Leu1280=)
c.3267T>C (p.Leu1089=)
c.3192T>C (p.Leu1064=)
c.1869T>C (p.Leu623=)
3g.38872223A>TCA433142058SCN11Ac.3465T>A (p.Leu1155=)
c.3519T>A (n.3519T>A)
c.3285T>A (p.Leu1095=)
c.3509T>A (n.3509T>A)
c.3084T>A (p.Leu1028=)
c.3351T>A (p.Leu1117=)
c.2802T>A (p.Leu934=)
c.2013T>A (p.Leu671=)
c.3840T>A (p.Leu1280=)
c.3267T>A (p.Leu1089=)
c.3192T>A (p.Leu1064=)
c.1869T>A (p.Leu623=)
3g.38872224A=CA1358707917SCN11Ac.3464T= (p.Leu1155=)
c.3518T= (n.3518T=)
c.3284T= (p.Leu1095=)
c.3508T= (n.3508T=)
c.3083T= (p.Leu1028=)
c.3350T= (p.Leu1117=)
c.2801T= (p.Leu934=)
c.2012T= (p.Leu671=)
c.3839T= (p.Leu1280=)
c.3266T= (p.Leu1089=)
c.3191T= (p.Leu1064=)
c.1868T= (p.Leu623=)
3g.38872224A>CCA352171309SCN11Ac.3464T>G (p.Leu1155Arg)
c.3518T>G (n.3518T>G)
c.3284T>G (p.Leu1095Arg)
c.3508T>G (n.3508T>G)
c.3083T>G (p.Leu1028Arg)
c.3350T>G (p.Leu1117Arg)
c.2801T>G (p.Leu934Arg)
c.2012T>G (p.Leu671Arg)
c.3839T>G (p.Leu1280Arg)
c.3266T>G (p.Leu1089Arg)
c.3191T>G (p.Leu1064Arg)
c.1868T>G (p.Leu623Arg)
3g.38872224A>GCA72980401SCN11Ac.3464T>C (p.Leu1155Pro)
c.3518T>C (n.3518T>C)
c.3284T>C (p.Leu1095Pro)
c.3508T>C (n.3508T>C)
c.3083T>C (p.Leu1028Pro)
c.3350T>C (p.Leu1117Pro)
c.2801T>C (p.Leu934Pro)
c.2012T>C (p.Leu671Pro)
c.3839T>C (p.Leu1280Pro)
c.3266T>C (p.Leu1089Pro)
c.3191T>C (p.Leu1064Pro)
c.1868T>C (p.Leu623Pro)
 dbSNP
3g.38872224A>TCA352171310SCN11Ac.3464T>A (p.Leu1155His)
c.3518T>A (n.3518T>A)
c.3284T>A (p.Leu1095His)
c.3508T>A (n.3508T>A)
c.3083T>A (p.Leu1028His)
c.3350T>A (p.Leu1117His)
c.2801T>A (p.Leu934His)
c.2012T>A (p.Leu671His)
c.3839T>A (p.Leu1280His)
c.3266T>A (p.Leu1089His)
c.3191T>A (p.Leu1064His)
c.1868T>A (p.Leu623His)
3g.38872225G>ACA352171311SCN11Ac.3463C>T (p.Leu1155Phe)
c.3517C>T (n.3517C>T)
c.3283C>T (p.Leu1095Phe)
c.3507C>T (n.3507C>T)
c.3082C>T (p.Leu1028Phe)
c.3349C>T (p.Leu1117Phe)
c.2800C>T (p.Leu934Phe)
c.2011C>T (p.Leu671Phe)
c.3838C>T (p.Leu1280Phe)
c.3265C>T (p.Leu1089Phe)
c.3190C>T (p.Leu1064Phe)
c.1867C>T (p.Leu623Phe)
3g.38872225G>CCA352171312SCN11Ac.3463C>G (p.Leu1155Val)
c.3517C>G (n.3517C>G)
c.3283C>G (p.Leu1095Val)
c.3507C>G (n.3507C>G)
c.3082C>G (p.Leu1028Val)
c.3349C>G (p.Leu1117Val)
c.2800C>G (p.Leu934Val)
c.2011C>G (p.Leu671Val)
c.3838C>G (p.Leu1280Val)
c.3265C>G (p.Leu1089Val)
c.3190C>G (p.Leu1064Val)
c.1867C>G (p.Leu623Val)
3g.38872225G>TCA352171313SCN11Ac.3463C>A (p.Leu1155Ile)
c.3517C>A (n.3517C>A)
c.3283C>A (p.Leu1095Ile)
c.3507C>A (n.3507C>A)
c.3082C>A (p.Leu1028Ile)
c.3349C>A (p.Leu1117Ile)
c.2800C>A (p.Leu934Ile)
c.2011C>A (p.Leu671Ile)
c.3838C>A (p.Leu1280Ile)
c.3265C>A (p.Leu1089Ile)
c.3190C>A (p.Leu1064Ile)
c.1867C>A (p.Leu623Ile)
3g.38872226A>CCA433142059SCN11Ac.3462T>G (p.Pro1154=)
c.3516T>G (n.3516T>G)
c.3282T>G (p.Pro1094=)
c.3506T>G (n.3506T>G)
c.3081T>G (p.Pro1027=)
c.3348T>G (p.Pro1116=)
c.2799T>G (p.Pro933=)
c.2010T>G (p.Pro670=)
c.3837T>G (p.Pro1279=)
c.3264T>G (p.Pro1088=)
c.3189T>G (p.Pro1063=)
c.1866T>G (p.Pro622=)
3g.38872226A>GCA433142060SCN11Ac.3462T>C (p.Pro1154=)
c.3516T>C (n.3516T>C)
c.3282T>C (p.Pro1094=)
c.3506T>C (n.3506T>C)
c.3081T>C (p.Pro1027=)
c.3348T>C (p.Pro1116=)
c.2799T>C (p.Pro933=)
c.2010T>C (p.Pro670=)
c.3837T>C (p.Pro1279=)
c.3264T>C (p.Pro1088=)
c.3189T>C (p.Pro1063=)
c.1866T>C (p.Pro622=)
3g.38872226A>TCA433142061SCN11Ac.3462T>A (p.Pro1154=)
c.3516T>A (n.3516T>A)
c.3282T>A (p.Pro1094=)
c.3506T>A (n.3506T>A)
c.3081T>A (p.Pro1027=)
c.3348T>A (p.Pro1116=)
c.2799T>A (p.Pro933=)
c.2010T>A (p.Pro670=)
c.3837T>A (p.Pro1279=)
c.3264T>A (p.Pro1088=)
c.3189T>A (p.Pro1063=)
c.1866T>A (p.Pro622=)
3g.38872227G>ACA2321781SCN11Ac.3461C>T (p.Pro1154Leu)
c.3515C>T (n.3515C>T)
c.3281C>T (p.Pro1094Leu)
c.3505C>T (n.3505C>T)
c.3080C>T (p.Pro1027Leu)
c.3347C>T (p.Pro1116Leu)
c.2798C>T (p.Pro933Leu)
c.2009C>T (p.Pro670Leu)
c.3836C>T (p.Pro1279Leu)
c.3263C>T (p.Pro1088Leu)
c.3188C>T (p.Pro1063Leu)
c.1865C>T (p.Pro622Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38872227G>CCA352171314SCN11Ac.3461C>G (p.Pro1154Arg)
c.3515C>G (n.3515C>G)
c.3281C>G (p.Pro1094Arg)
c.3505C>G (n.3505C>G)
c.3080C>G (p.Pro1027Arg)
c.3347C>G (p.Pro1116Arg)
c.2798C>G (p.Pro933Arg)
c.2009C>G (p.Pro670Arg)
c.3836C>G (p.Pro1279Arg)
c.3263C>G (p.Pro1088Arg)
c.3188C>G (p.Pro1063Arg)
c.1865C>G (p.Pro622Arg)
3g.38872227G=CA1358707920SCN11Ac.3461C= (p.Pro1154=)
c.3515C= (n.3515C=)
c.3281C= (p.Pro1094=)
c.3505C= (n.3505C=)
c.3080C= (p.Pro1027=)
c.3347C= (p.Pro1116=)
c.2798C= (p.Pro933=)
c.2009C= (p.Pro670=)
c.3836C= (p.Pro1279=)
c.3263C= (p.Pro1088=)
c.3188C= (p.Pro1063=)
c.1865C= (p.Pro622=)
3g.38872227G>TCA352171315SCN11Ac.3461C>A (p.Pro1154His)
c.3515C>A (n.3515C>A)
c.3281C>A (p.Pro1094His)
c.3505C>A (n.3505C>A)
c.3080C>A (p.Pro1027His)
c.3347C>A (p.Pro1116His)
c.2798C>A (p.Pro933His)
c.2009C>A (p.Pro670His)
c.3836C>A (p.Pro1279His)
c.3263C>A (p.Pro1088His)
c.3188C>A (p.Pro1063His)
c.1865C>A (p.Pro622His)
3g.38872228G>ACA352171316SCN11Ac.3460C>T (p.Pro1154Ser)
c.3514C>T (n.3514C>T)
c.3280C>T (p.Pro1094Ser)
c.3504C>T (n.3504C>T)
c.3079C>T (p.Pro1027Ser)
c.3346C>T (p.Pro1116Ser)
c.2797C>T (p.Pro933Ser)
c.2008C>T (p.Pro670Ser)
c.3835C>T (p.Pro1279Ser)
c.3262C>T (p.Pro1088Ser)
c.3187C>T (p.Pro1063Ser)
c.1864C>T (p.Pro622Ser)
3g.38872228G>CCA352171317SCN11Ac.3460C>G (p.Pro1154Ala)
c.3514C>G (n.3514C>G)
c.3280C>G (p.Pro1094Ala)
c.3504C>G (n.3504C>G)
c.3079C>G (p.Pro1027Ala)
c.3346C>G (p.Pro1116Ala)
c.2797C>G (p.Pro933Ala)
c.2008C>G (p.Pro670Ala)
c.3835C>G (p.Pro1279Ala)
c.3262C>G (p.Pro1088Ala)
c.3187C>G (p.Pro1063Ala)
c.1864C>G (p.Pro622Ala)
3g.38872228G>TCA352171318SCN11Ac.3460C>A (p.Pro1154Thr)
c.3514C>A (n.3514C>A)
c.3280C>A (p.Pro1094Thr)
c.3504C>A (n.3504C>A)
c.3079C>A (p.Pro1027Thr)
c.3346C>A (p.Pro1116Thr)
c.2797C>A (p.Pro933Thr)
c.2008C>A (p.Pro670Thr)
c.3835C>A (p.Pro1279Thr)
c.3262C>A (p.Pro1088Thr)
c.3187C>A (p.Pro1063Thr)
c.1864C>A (p.Pro622Thr)
 gnomAD v4
3g.38872229C>ACA352171319SCN11Ac.3459G>T (p.Arg1153Ser)
c.3513G>T (n.3513G>T)
c.3279G>T (p.Arg1093Ser)
c.3503G>T (n.3503G>T)
c.3078G>T (p.Arg1026Ser)
c.3345G>T (p.Arg1115Ser)
c.2796G>T (p.Arg932Ser)
c.2007G>T (p.Arg669Ser)
c.3834G>T (p.Arg1278Ser)
c.3261G>T (p.Arg1087Ser)
c.3186G>T (p.Arg1062Ser)
c.1863G>T (p.Arg621Ser)
 ClinVar
3g.38872229C=CA1358707923SCN11Ac.3459G= (p.Arg1153=)
c.3513G= (n.3513G=)
c.3279G= (p.Arg1093=)
c.3503G= (n.3503G=)
c.3078G= (p.Arg1026=)
c.3345G= (p.Arg1115=)
c.2796G= (p.Arg932=)
c.2007G= (p.Arg669=)
c.3834G= (p.Arg1278=)
c.3261G= (p.Arg1087=)
c.3186G= (p.Arg1062=)
c.1863G= (p.Arg621=)
3g.38872229C>GCA2321782SCN11Ac.3459G>C (p.Arg1153Ser)
c.3513G>C (n.3513G>C)
c.3279G>C (p.Arg1093Ser)
c.3503G>C (n.3503G>C)
c.3078G>C (p.Arg1026Ser)
c.3345G>C (p.Arg1115Ser)
c.2796G>C (p.Arg932Ser)
c.2007G>C (p.Arg669Ser)
c.3834G>C (p.Arg1278Ser)
c.3261G>C (p.Arg1087Ser)
c.3186G>C (p.Arg1062Ser)
c.1863G>C (p.Arg621Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38872229C>TCA433142063SCN11Ac.3459G>A (p.Arg1153=)
c.3513G>A (n.3513G>A)
c.3279G>A (p.Arg1093=)
c.3503G>A (n.3503G>A)
c.3078G>A (p.Arg1026=)
c.3345G>A (p.Arg1115=)
c.2796G>A (p.Arg932=)
c.2007G>A (p.Arg669=)
c.3834G>A (p.Arg1278=)
c.3261G>A (p.Arg1087=)
c.3186G>A (p.Arg1062=)
c.1863G>A (p.Arg621=)
 dbSNP gnomAD v3 gnomAD v4
3g.38872230C>ACA352171320SCN11Ac.3458G>T (p.Arg1153Met)
c.3512G>T (n.3512G>T)
c.3278G>T (p.Arg1093Met)
c.3502G>T (n.3502G>T)
c.3077G>T (p.Arg1026Met)
c.3344G>T (p.Arg1115Met)
c.2795G>T (p.Arg932Met)
c.2006G>T (p.Arg669Met)
c.3833G>T (p.Arg1278Met)
c.3260G>T (p.Arg1087Met)
c.3185G>T (p.Arg1062Met)
c.1862G>T (p.Arg621Met)
3g.38872230C>GCA352171321SCN11Ac.3458G>C (p.Arg1153Thr)
c.3512G>C (n.3512G>C)
c.3278G>C (p.Arg1093Thr)
c.3502G>C (n.3502G>C)
c.3077G>C (p.Arg1026Thr)
c.3344G>C (p.Arg1115Thr)
c.2795G>C (p.Arg932Thr)
c.2006G>C (p.Arg669Thr)
c.3833G>C (p.Arg1278Thr)
c.3260G>C (p.Arg1087Thr)
c.3185G>C (p.Arg1062Thr)
c.1862G>C (p.Arg621Thr)
3g.38872230C>TCA352171322SCN11Ac.3458G>A (p.Arg1153Lys)
c.3512G>A (n.3512G>A)
c.3278G>A (p.Arg1093Lys)
c.3502G>A (n.3502G>A)
c.3077G>A (p.Arg1026Lys)
c.3344G>A (p.Arg1115Lys)
c.2795G>A (p.Arg932Lys)
c.2006G>A (p.Arg669Lys)
c.3833G>A (p.Arg1278Lys)
c.3260G>A (p.Arg1087Lys)
c.3185G>A (p.Arg1062Lys)
c.1862G>A (p.Arg621Lys)
 gnomAD v4 COSMIC
3g.38872231T>ACA352171323SCN11Ac.3457A>T (p.Arg1153Trp)
c.3511A>T (n.3511A>T)
c.3277A>T (p.Arg1093Trp)
c.3501A>T (n.3501A>T)
c.3076A>T (p.Arg1026Trp)
c.3343A>T (p.Arg1115Trp)
c.2794A>T (p.Arg932Trp)
c.2005A>T (p.Arg669Trp)
c.3832A>T (p.Arg1278Trp)
c.3259A>T (p.Arg1087Trp)
c.3184A>T (p.Arg1062Trp)
c.1861A>T (p.Arg621Trp)
3g.38872231T>CCA352171324SCN11Ac.3457A>G (p.Arg1153Gly)
c.3511A>G (n.3511A>G)
c.3277A>G (p.Arg1093Gly)
c.3501A>G (n.3501A>G)
c.3076A>G (p.Arg1026Gly)
c.3343A>G (p.Arg1115Gly)
c.2794A>G (p.Arg932Gly)
c.2005A>G (p.Arg669Gly)
c.3832A>G (p.Arg1278Gly)
c.3259A>G (p.Arg1087Gly)
c.3184A>G (p.Arg1062Gly)
c.1861A>G (p.Arg621Gly)
 ClinVar
3g.38872231T>GCA433142064SCN11Ac.3457A>C (p.Arg1153=)
c.3511A>C (n.3511A>C)
c.3277A>C (p.Arg1093=)
c.3501A>C (n.3501A>C)
c.3076A>C (p.Arg1026=)
c.3343A>C (p.Arg1115=)
c.2794A>C (p.Arg932=)
c.2005A>C (p.Arg669=)
c.3832A>C (p.Arg1278=)
c.3259A>C (p.Arg1087=)
c.3184A>C (p.Arg1062=)
c.1861A>C (p.Arg621=)
3g.38872232C>ACA433142065SCN11Ac.3456G>T (p.Leu1152=)
c.3510G>T (n.3510G>T)
c.3276G>T (p.Leu1092=)
c.3500G>T (n.3500G>T)
c.3075G>T (p.Leu1025=)
c.3342G>T (p.Leu1114=)
c.2793G>T (p.Leu931=)
c.2004G>T (p.Leu668=)
c.3831G>T (p.Leu1277=)
c.3258G>T (p.Leu1086=)
c.3183G>T (p.Leu1061=)
c.1860G>T (p.Leu620=)
3g.38872232C>GCA433142066SCN11Ac.3456G>C (p.Leu1152=)
c.3510G>C (n.3510G>C)
c.3276G>C (p.Leu1092=)
c.3500G>C (n.3500G>C)
c.3075G>C (p.Leu1025=)
c.3342G>C (p.Leu1114=)
c.2793G>C (p.Leu931=)
c.2004G>C (p.Leu668=)
c.3831G>C (p.Leu1277=)
c.3258G>C (p.Leu1086=)
c.3183G>C (p.Leu1061=)
c.1860G>C (p.Leu620=)
3g.38872232C>TCA433142067SCN11Ac.3456G>A (p.Leu1152=)
c.3510G>A (n.3510G>A)
c.3276G>A (p.Leu1092=)
c.3500G>A (n.3500G>A)
c.3075G>A (p.Leu1025=)
c.3342G>A (p.Leu1114=)
c.2793G>A (p.Leu931=)
c.2004G>A (p.Leu668=)
c.3831G>A (p.Leu1277=)
c.3258G>A (p.Leu1086=)
c.3183G>A (p.Leu1061=)
c.1860G>A (p.Leu620=)
3g.38872233A>CCA352171325SCN11Ac.3455T>G (p.Leu1152Arg)
c.3509T>G (n.3509T>G)
c.3275T>G (p.Leu1092Arg)
c.3499T>G (n.3499T>G)
c.3074T>G (p.Leu1025Arg)
c.3341T>G (p.Leu1114Arg)
c.2792T>G (p.Leu931Arg)
c.2003T>G (p.Leu668Arg)
c.3830T>G (p.Leu1277Arg)
c.3257T>G (p.Leu1086Arg)
c.3182T>G (p.Leu1061Arg)
c.1859T>G (p.Leu620Arg)
3g.38872233A>GCA352171326SCN11Ac.3455T>C (p.Leu1152Pro)
c.3509T>C (n.3509T>C)
c.3275T>C (p.Leu1092Pro)
c.3499T>C (n.3499T>C)
c.3074T>C (p.Leu1025Pro)
c.3341T>C (p.Leu1114Pro)
c.2792T>C (p.Leu931Pro)
c.2003T>C (p.Leu668Pro)
c.3830T>C (p.Leu1277Pro)
c.3257T>C (p.Leu1086Pro)
c.3182T>C (p.Leu1061Pro)
c.1859T>C (p.Leu620Pro)
3g.38872233A>TCA352171327SCN11Ac.3455T>A (p.Leu1152Gln)
c.3509T>A (n.3509T>A)
c.3275T>A (p.Leu1092Gln)
c.3499T>A (n.3499T>A)
c.3074T>A (p.Leu1025Gln)
c.3341T>A (p.Leu1114Gln)
c.2792T>A (p.Leu931Gln)
c.2003T>A (p.Leu668Gln)
c.3830T>A (p.Leu1277Gln)
c.3257T>A (p.Leu1086Gln)
c.3182T>A (p.Leu1061Gln)
c.1859T>A (p.Leu620Gln)
3g.38872234G>ACA433142068SCN11Ac.3454C>T (p.Leu1152=)
c.3508C>T (n.3508C>T)
c.3274C>T (p.Leu1092=)
c.3498C>T (n.3498C>T)
c.3073C>T (p.Leu1025=)
c.3340C>T (p.Leu1114=)
c.2791C>T (p.Leu931=)
c.2002C>T (p.Leu668=)
c.3829C>T (p.Leu1277=)
c.3256C>T (p.Leu1086=)
c.3181C>T (p.Leu1061=)
c.1858C>T (p.Leu620=)
 gnomAD v4
3g.38872234G>CCA352171328SCN11Ac.3454C>G (p.Leu1152Val)
c.3508C>G (n.3508C>G)
c.3274C>G (p.Leu1092Val)
c.3498C>G (n.3498C>G)
c.3073C>G (p.Leu1025Val)
c.3340C>G (p.Leu1114Val)
c.2791C>G (p.Leu931Val)
c.2002C>G (p.Leu668Val)
c.3829C>G (p.Leu1277Val)
c.3256C>G (p.Leu1086Val)
c.3181C>G (p.Leu1061Val)
c.1858C>G (p.Leu620Val)
3g.38872234G>TCA352171329SCN11Ac.3454C>A (p.Leu1152Met)
c.3508C>A (n.3508C>A)
c.3274C>A (p.Leu1092Met)
c.3498C>A (n.3498C>A)
c.3073C>A (p.Leu1025Met)
c.3340C>A (p.Leu1114Met)
c.2791C>A (p.Leu931Met)
c.2002C>A (p.Leu668Met)
c.3829C>A (p.Leu1277Met)
c.3256C>A (p.Leu1086Met)
c.3181C>A (p.Leu1061Met)
c.1858C>A (p.Leu620Met)
3g.38872235T>ACA433142071SCN11Ac.3453A>T (p.Ala1151=)
c.3507A>T (n.3507A>T)
c.3273A>T (p.Ala1091=)
c.3497A>T (n.3497A>T)
c.3072A>T (p.Ala1024=)
c.3339A>T (p.Ala1113=)
c.2790A>T (p.Ala930=)
c.2001A>T (p.Ala667=)
c.3828A>T (p.Ala1276=)
c.3255A>T (p.Ala1085=)
c.3180A>T (p.Ala1060=)
c.1857A>T (p.Ala619=)
3g.38872235T>CCA433142070SCN11Ac.3453A>G (p.Ala1151=)
c.3507A>G (n.3507A>G)
c.3273A>G (p.Ala1091=)
c.3497A>G (n.3497A>G)
c.3072A>G (p.Ala1024=)
c.3339A>G (p.Ala1113=)
c.2790A>G (p.Ala930=)
c.2001A>G (p.Ala667=)
c.3828A>G (p.Ala1276=)
c.3255A>G (p.Ala1085=)
c.3180A>G (p.Ala1060=)
c.1857A>G (p.Ala619=)
3g.38872235T>GCA433142069SCN11Ac.3453A>C (p.Ala1151=)
c.3507A>C (n.3507A>C)
c.3273A>C (p.Ala1091=)
c.3497A>C (n.3497A>C)
c.3072A>C (p.Ala1024=)
c.3339A>C (p.Ala1113=)
c.2790A>C (p.Ala930=)
c.2001A>C (p.Ala667=)
c.3828A>C (p.Ala1276=)
c.3255A>C (p.Ala1085=)
c.3180A>C (p.Ala1060=)
c.1857A>C (p.Ala619=)
3g.38872236G>ACA2321783SCN11Ac.3452C>T (p.Ala1151Val)
c.3506C>T (n.3506C>T)
c.3272C>T (p.Ala1091Val)
c.3496C>T (n.3496C>T)
c.3071C>T (p.Ala1024Val)
c.3338C>T (p.Ala1113Val)
c.2789C>T (p.Ala930Val)
c.2000C>T (p.Ala667Val)
c.3827C>T (p.Ala1276Val)
c.3254C>T (p.Ala1085Val)
c.3179C>T (p.Ala1060Val)
c.1856C>T (p.Ala619Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38872236G>CCA352171330SCN11Ac.3452C>G (p.Ala1151Gly)
c.3506C>G (n.3506C>G)
c.3272C>G (p.Ala1091Gly)
c.3496C>G (n.3496C>G)
c.3071C>G (p.Ala1024Gly)
c.3338C>G (p.Ala1113Gly)
c.2789C>G (p.Ala930Gly)
c.2000C>G (p.Ala667Gly)
c.3827C>G (p.Ala1276Gly)
c.3254C>G (p.Ala1085Gly)
c.3179C>G (p.Ala1060Gly)
c.1856C>G (p.Ala619Gly)
3g.38872236G=CA1358707931SCN11Ac.3452C= (p.Ala1151=)
c.3506C= (n.3506C=)
c.3272C= (p.Ala1091=)
c.3496C= (n.3496C=)
c.3071C= (p.Ala1024=)
c.3338C= (p.Ala1113=)
c.2789C= (p.Ala930=)
c.2000C= (p.Ala667=)
c.3827C= (p.Ala1276=)
c.3254C= (p.Ala1085=)
c.3179C= (p.Ala1060=)
c.1856C= (p.Ala619=)
3g.38872236G>TCA352171331SCN11Ac.3452C>A (p.Ala1151Glu)
c.3506C>A (n.3506C>A)
c.3272C>A (p.Ala1091Glu)
c.3496C>A (n.3496C>A)
c.3071C>A (p.Ala1024Glu)
c.3338C>A (p.Ala1113Glu)
c.2789C>A (p.Ala930Glu)
c.2000C>A (p.Ala667Glu)
c.3827C>A (p.Ala1276Glu)
c.3254C>A (p.Ala1085Glu)
c.3179C>A (p.Ala1060Glu)
c.1856C>A (p.Ala619Glu)
 gnomAD v4
3g.38872237C>ACA352171332SCN11Ac.3451G>T (p.Ala1151Ser)
c.3505G>T (n.3505G>T)
c.3271G>T (p.Ala1091Ser)
c.3495G>T (n.3495G>T)
c.3070G>T (p.Ala1024Ser)
c.3337G>T (p.Ala1113Ser)
c.2788G>T (p.Ala930Ser)
c.1999G>T (p.Ala667Ser)
c.3826G>T (p.Ala1276Ser)
c.3253G>T (p.Ala1085Ser)
c.3178G>T (p.Ala1060Ser)
c.1855G>T (p.Ala619Ser)
3g.38872237C>GCA352171333SCN11Ac.3451G>C (p.Ala1151Pro)
c.3505G>C (n.3505G>C)
c.3271G>C (p.Ala1091Pro)
c.3495G>C (n.3495G>C)
c.3070G>C (p.Ala1024Pro)
c.3337G>C (p.Ala1113Pro)
c.2788G>C (p.Ala930Pro)
c.1999G>C (p.Ala667Pro)
c.3826G>C (p.Ala1276Pro)
c.3253G>C (p.Ala1085Pro)
c.3178G>C (p.Ala1060Pro)
c.1855G>C (p.Ala619Pro)
3g.38872237C>TCA352171334SCN11Ac.3451G>A (p.Ala1151Thr)
c.3505G>A (n.3505G>A)
c.3271G>A (p.Ala1091Thr)
c.3495G>A (n.3495G>A)
c.3070G>A (p.Ala1024Thr)
c.3337G>A (p.Ala1113Thr)
c.2788G>A (p.Ala930Thr)
c.1999G>A (p.Ala667Thr)
c.3826G>A (p.Ala1276Thr)
c.3253G>A (p.Ala1085Thr)
c.3178G>A (p.Ala1060Thr)
c.1855G>A (p.Ala619Thr)
3g.38872238T>ACA433142075SCN11Ac.3450A>T (p.Arg1150=)
c.3504A>T (n.3504A>T)
c.3270A>T (p.Arg1090=)
c.3494A>T (n.3494A>T)
c.3069A>T (p.Arg1023=)
c.3336A>T (p.Arg1112=)
c.2787A>T (p.Arg929=)
c.1998A>T (p.Arg666=)
c.3825A>T (p.Arg1275=)
c.3252A>T (p.Arg1084=)
c.3177A>T (p.Arg1059=)
c.1854A>T (p.Arg618=)
3g.38872238T>CCA433142074SCN11Ac.3450A>G (p.Arg1150=)
c.3504A>G (n.3504A>G)
c.3270A>G (p.Arg1090=)
c.3494A>G (n.3494A>G)
c.3069A>G (p.Arg1023=)
c.3336A>G (p.Arg1112=)
c.2787A>G (p.Arg929=)
c.1998A>G (p.Arg666=)
c.3825A>G (p.Arg1275=)
c.3252A>G (p.Arg1084=)
c.3177A>G (p.Arg1059=)
c.1854A>G (p.Arg618=)
3g.38872238T>GCA433142073SCN11Ac.3450A>C (p.Arg1150=)
c.3504A>C (n.3504A>C)
c.3270A>C (p.Arg1090=)
c.3494A>C (n.3494A>C)
c.3069A>C (p.Arg1023=)
c.3336A>C (p.Arg1112=)
c.2787A>C (p.Arg929=)
c.1998A>C (p.Arg666=)
c.3825A>C (p.Arg1275=)
c.3252A>C (p.Arg1084=)
c.3177A>C (p.Arg1059=)
c.1854A>C (p.Arg618=)
3g.38872239C>ACA72980428SCN11Ac.3449G>T (p.Arg1150Leu)
c.3503G>T (n.3503G>T)
c.3269G>T (p.Arg1090Leu)
c.3493G>T (n.3493G>T)
c.3068G>T (p.Arg1023Leu)
c.3335G>T (p.Arg1112Leu)
c.2786G>T (p.Arg929Leu)
c.1997G>T (p.Arg666Leu)
c.3824G>T (p.Arg1275Leu)
c.3251G>T (p.Arg1084Leu)
c.3176G>T (p.Arg1059Leu)
c.1853G>T (p.Arg618Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38872239C=CA1358707937SCN11Ac.3449G= (p.Arg1150=)
c.3503G= (n.3503G=)
c.3269G= (p.Arg1090=)
c.3493G= (n.3493G=)
c.3068G= (p.Arg1023=)
c.3335G= (p.Arg1112=)
c.2786G= (p.Arg929=)
c.1997G= (p.Arg666=)
c.3824G= (p.Arg1275=)
c.3251G= (p.Arg1084=)
c.3176G= (p.Arg1059=)
c.1853G= (p.Arg618=)
3g.38872239C>GCA352171336SCN11Ac.3449G>C (p.Arg1150Pro)
c.3503G>C (n.3503G>C)
c.3269G>C (p.Arg1090Pro)
c.3493G>C (n.3493G>C)
c.3068G>C (p.Arg1023Pro)
c.3335G>C (p.Arg1112Pro)
c.2786G>C (p.Arg929Pro)
c.1997G>C (p.Arg666Pro)
c.3824G>C (p.Arg1275Pro)
c.3251G>C (p.Arg1084Pro)
c.3176G>C (p.Arg1059Pro)
c.1853G>C (p.Arg618Pro)
3g.38872239C>TCA352171335SCN11Ac.3449G>A (p.Arg1150Gln)
c.3503G>A (n.3503G>A)
c.3269G>A (p.Arg1090Gln)
c.3493G>A (n.3493G>A)
c.3068G>A (p.Arg1023Gln)
c.3335G>A (p.Arg1112Gln)
c.2786G>A (p.Arg929Gln)
c.1997G>A (p.Arg666Gln)
c.3824G>A (p.Arg1275Gln)
c.3251G>A (p.Arg1084Gln)
c.3176G>A (p.Arg1059Gln)
c.1853G>A (p.Arg618Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38872240G>ACA2321784SCN11Ac.3448C>T (p.Arg1150Ter)
c.3502C>T (n.3502C>T)
c.3268C>T (p.Arg1090Ter)
c.3492C>T (n.3492C>T)
c.3067C>T (p.Arg1023Ter)
c.3334C>T (p.Arg1112Ter)
c.2785C>T (p.Arg929Ter)
c.1996C>T (p.Arg666Ter)
c.3823C>T (p.Arg1275Ter)
c.3250C>T (p.Arg1084Ter)
c.3175C>T (p.Arg1059Ter)
c.1852C>T (p.Arg618Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38872240G>CCA352171337SCN11Ac.3448C>G (p.Arg1150Gly)
c.3502C>G (n.3502C>G)
c.3268C>G (p.Arg1090Gly)
c.3492C>G (n.3492C>G)
c.3067C>G (p.Arg1023Gly)
c.3334C>G (p.Arg1112Gly)
c.2785C>G (p.Arg929Gly)
c.1996C>G (p.Arg666Gly)
c.3823C>G (p.Arg1275Gly)
c.3250C>G (p.Arg1084Gly)
c.3175C>G (p.Arg1059Gly)
c.1852C>G (p.Arg618Gly)
 gnomAD v4
3g.38872240G=CA1358707946SCN11Ac.3448C= (p.Arg1150=)
c.3502C= (n.3502C=)
c.3268C= (p.Arg1090=)
c.3492C= (n.3492C=)
c.3067C= (p.Arg1023=)
c.3334C= (p.Arg1112=)
c.2785C= (p.Arg929=)
c.1996C= (p.Arg666=)
c.3823C= (p.Arg1275=)
c.3250C= (p.Arg1084=)
c.3175C= (p.Arg1059=)
c.1852C= (p.Arg618=)
3g.38872240G>TCA433142080SCN11Ac.3448C>A (p.Arg1150=)
c.3502C>A (n.3502C>A)
c.3268C>A (p.Arg1090=)
c.3492C>A (n.3492C>A)
c.3067C>A (p.Arg1023=)
c.3334C>A (p.Arg1112=)
c.2785C>A (p.Arg929=)
c.1996C>A (p.Arg666=)
c.3823C>A (p.Arg1275=)
c.3250C>A (p.Arg1084=)
c.3175C>A (p.Arg1059=)
c.1852C>A (p.Arg618=)
 dbSNP gnomAD v2 gnomAD v4
3g.38872241T>ACA433142081SCN11Ac.3447A>T (p.Leu1149=)
c.3501A>T (n.3501A>T)
c.3267A>T (p.Leu1089=)
c.3491A>T (n.3491A>T)
c.3066A>T (p.Leu1022=)
c.3333A>T (p.Leu1111=)
c.2784A>T (p.Leu928=)
c.1995A>T (p.Leu665=)
c.3822A>T (p.Leu1274=)
c.3249A>T (p.Leu1083=)
c.3174A>T (p.Leu1058=)
c.1851A>T (p.Leu617=)
3g.38872241T>CCA433142083SCN11Ac.3447A>G (p.Leu1149=)
c.3501A>G (n.3501A>G)
c.3267A>G (p.Leu1089=)
c.3491A>G (n.3491A>G)
c.3066A>G (p.Leu1022=)
c.3333A>G (p.Leu1111=)
c.2784A>G (p.Leu928=)
c.1995A>G (p.Leu665=)
c.3822A>G (p.Leu1274=)
c.3249A>G (p.Leu1083=)
c.3174A>G (p.Leu1058=)
c.1851A>G (p.Leu617=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
3g.38872241T>GCA433142082SCN11Ac.3447A>C (p.Leu1149=)
c.3501A>C (n.3501A>C)
c.3267A>C (p.Leu1089=)
c.3491A>C (n.3491A>C)
c.3066A>C (p.Leu1022=)
c.3333A>C (p.Leu1111=)
c.2784A>C (p.Leu928=)
c.1995A>C (p.Leu665=)
c.3822A>C (p.Leu1274=)
c.3249A>C (p.Leu1083=)
c.3174A>C (p.Leu1058=)
c.1851A>C (p.Leu617=)
3g.38872241T=CA1358707950SCN11Ac.3447A= (p.Leu1149=)
c.3501A= (n.3501A=)
c.3267A= (p.Leu1089=)
c.3491A= (n.3491A=)
c.3066A= (p.Leu1022=)
c.3333A= (p.Leu1111=)
c.2784A= (p.Leu928=)
c.1995A= (p.Leu665=)
c.3822A= (p.Leu1274=)
c.3249A= (p.Leu1083=)
c.3174A= (p.Leu1058=)
c.1851A= (p.Leu617=)
3g.38872242A=CA1358707954SCN11Ac.3446T= (p.Leu1149=)
c.3500T= (n.3500T=)
c.3266T= (p.Leu1089=)
c.3490T= (n.3490T=)
c.3065T= (p.Leu1022=)
c.3332T= (p.Leu1111=)
c.2783T= (p.Leu928=)
c.1994T= (p.Leu665=)
c.3821T= (p.Leu1274=)
c.3248T= (p.Leu1083=)
c.3173T= (p.Leu1058=)
c.1850T= (p.Leu617=)
3g.38872242A>CCA352171338SCN11Ac.3446T>G (p.Leu1149Arg)
c.3500T>G (n.3500T>G)
c.3266T>G (p.Leu1089Arg)
c.3490T>G (n.3490T>G)
c.3065T>G (p.Leu1022Arg)
c.3332T>G (p.Leu1111Arg)
c.2783T>G (p.Leu928Arg)
c.1994T>G (p.Leu665Arg)
c.3821T>G (p.Leu1274Arg)
c.3248T>G (p.Leu1083Arg)
c.3173T>G (p.Leu1058Arg)
c.1850T>G (p.Leu617Arg)
 gnomAD v4
3g.38872242A>GCA2321785SCN11Ac.3446T>C (p.Leu1149Pro)
c.3500T>C (n.3500T>C)
c.3266T>C (p.Leu1089Pro)
c.3490T>C (n.3490T>C)
c.3065T>C (p.Leu1022Pro)
c.3332T>C (p.Leu1111Pro)
c.2783T>C (p.Leu928Pro)
c.1994T>C (p.Leu665Pro)
c.3821T>C (p.Leu1274Pro)
c.3248T>C (p.Leu1083Pro)
c.3173T>C (p.Leu1058Pro)
c.1850T>C (p.Leu617Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.38872242A>TCA352171339SCN11Ac.3446T>A (p.Leu1149Gln)
c.3500T>A (n.3500T>A)
c.3266T>A (p.Leu1089Gln)
c.3490T>A (n.3490T>A)
c.3065T>A (p.Leu1022Gln)
c.3332T>A (p.Leu1111Gln)
c.2783T>A (p.Leu928Gln)
c.1994T>A (p.Leu665Gln)
c.3821T>A (p.Leu1274Gln)
c.3248T>A (p.Leu1083Gln)
c.3173T>A (p.Leu1058Gln)
c.1850T>A (p.Leu617Gln)
3g.38872243G>ACA433142086SCN11Ac.3445C>T (p.Leu1149=)
c.3499C>T (n.3499C>T)
c.3265C>T (p.Leu1089=)
c.3489C>T (n.3489C>T)
c.3064C>T (p.Leu1022=)
c.3331C>T (p.Leu1111=)
c.2782C>T (p.Leu928=)
c.1993C>T (p.Leu665=)
c.3820C>T (p.Leu1274=)
c.3247C>T (p.Leu1083=)
c.3172C>T (p.Leu1058=)
c.1849C>T (p.Leu617=)
3g.38872243G>CCA352171340SCN11Ac.3445C>G (p.Leu1149Val)
c.3499C>G (n.3499C>G)
c.3265C>G (p.Leu1089Val)
c.3489C>G (n.3489C>G)
c.3064C>G (p.Leu1022Val)
c.3331C>G (p.Leu1111Val)
c.2782C>G (p.Leu928Val)
c.1993C>G (p.Leu665Val)
c.3820C>G (p.Leu1274Val)
c.3247C>G (p.Leu1083Val)
c.3172C>G (p.Leu1058Val)
c.1849C>G (p.Leu617Val)
3g.38872243G>TCA352171341SCN11Ac.3445C>A (p.Leu1149Ile)
c.3499C>A (n.3499C>A)
c.3265C>A (p.Leu1089Ile)
c.3489C>A (n.3489C>A)
c.3064C>A (p.Leu1022Ile)
c.3331C>A (p.Leu1111Ile)
c.2782C>A (p.Leu928Ile)
c.1993C>A (p.Leu665Ile)
c.3820C>A (p.Leu1274Ile)
c.3247C>A (p.Leu1083Ile)
c.3172C>A (p.Leu1058Ile)
c.1849C>A (p.Leu617Ile)
3g.38872244A=CA1358707956SCN11Ac.3444T= (p.Thr1148=)
c.3498T= (n.3498T=)
c.3264T= (p.Thr1088=)
c.3488T= (n.3488T=)
c.3063T= (p.Thr1021=)
c.3330T= (p.Thr1110=)
c.2781T= (p.Thr927=)
c.1992T= (p.Thr664=)
c.3819T= (p.Thr1273=)
c.3246T= (p.Thr1082=)
c.3171T= (p.Thr1057=)
c.1848T= (p.Thr616=)
3g.38872244A>CCA433142087SCN11Ac.3444T>G (p.Thr1148=)
c.3498T>G (n.3498T>G)
c.3264T>G (p.Thr1088=)
c.3488T>G (n.3488T>G)
c.3063T>G (p.Thr1021=)
c.3330T>G (p.Thr1110=)
c.2781T>G (p.Thr927=)
c.1992T>G (p.Thr664=)
c.3819T>G (p.Thr1273=)
c.3246T>G (p.Thr1082=)
c.3171T>G (p.Thr1057=)
c.1848T>G (p.Thr616=)
3g.38872244A>GCA433142088SCN11Ac.3444T>C (p.Thr1148=)
c.3498T>C (n.3498T>C)
c.3264T>C (p.Thr1088=)
c.3488T>C (n.3488T>C)
c.3063T>C (p.Thr1021=)
c.3330T>C (p.Thr1110=)
c.2781T>C (p.Thr927=)
c.1992T>C (p.Thr664=)
c.3819T>C (p.Thr1273=)
c.3246T>C (p.Thr1082=)
c.3171T>C (p.Thr1057=)
c.1848T>C (p.Thr616=)
 dbSNP gnomAD v4
3g.38872244A>TCA433142089SCN11Ac.3444T>A (p.Thr1148=)
c.3498T>A (n.3498T>A)
c.3264T>A (p.Thr1088=)
c.3488T>A (n.3488T>A)
c.3063T>A (p.Thr1021=)
c.3330T>A (p.Thr1110=)
c.2781T>A (p.Thr927=)
c.1992T>A (p.Thr664=)
c.3819T>A (p.Thr1273=)
c.3246T>A (p.Thr1082=)
c.3171T>A (p.Thr1057=)
c.1848T>A (p.Thr616=)
3g.38872245G>ACA352171342SCN11Ac.3443C>T (p.Thr1148Ile)
c.3497C>T (n.3497C>T)
c.3263C>T (p.Thr1088Ile)
c.3487C>T (n.3487C>T)
c.3062C>T (p.Thr1021Ile)
c.3329C>T (p.Thr1110Ile)
c.2780C>T (p.Thr927Ile)
c.1991C>T (p.Thr664Ile)
c.3818C>T (p.Thr1273Ile)
c.3245C>T (p.Thr1082Ile)
c.3170C>T (p.Thr1057Ile)
c.1847C>T (p.Thr616Ile)
 gnomAD v4
3g.38872245G>CCA352171343SCN11Ac.3443C>G (p.Thr1148Ser)
c.3497C>G (n.3497C>G)
c.3263C>G (p.Thr1088Ser)
c.3487C>G (n.3487C>G)
c.3062C>G (p.Thr1021Ser)
c.3329C>G (p.Thr1110Ser)
c.2780C>G (p.Thr927Ser)
c.1991C>G (p.Thr664Ser)
c.3818C>G (p.Thr1273Ser)
c.3245C>G (p.Thr1082Ser)
c.3170C>G (p.Thr1057Ser)
c.1847C>G (p.Thr616Ser)
3g.38872245G>TCA352171344SCN11Ac.3443C>A (p.Thr1148Asn)
c.3497C>A (n.3497C>A)
c.3263C>A (p.Thr1088Asn)
c.3487C>A (n.3487C>A)
c.3062C>A (p.Thr1021Asn)
c.3329C>A (p.Thr1110Asn)
c.2780C>A (p.Thr927Asn)
c.1991C>A (p.Thr664Asn)
c.3818C>A (p.Thr1273Asn)
c.3245C>A (p.Thr1082Asn)
c.3170C>A (p.Thr1057Asn)
c.1847C>A (p.Thr616Asn)
3g.38872246T>ACA352171345SCN11Ac.3442A>T (p.Thr1148Ser)
c.3496A>T (n.3496A>T)
c.3262A>T (p.Thr1088Ser)
c.3486A>T (n.3486A>T)
c.3061A>T (p.Thr1021Ser)
c.3328A>T (p.Thr1110Ser)
c.2779A>T (p.Thr927Ser)
c.1990A>T (p.Thr664Ser)
c.3817A>T (p.Thr1273Ser)
c.3244A>T (p.Thr1082Ser)
c.3169A>T (p.Thr1057Ser)
c.1846A>T (p.Thr616Ser)
3g.38872246T>CCA352171346SCN11Ac.3442A>G (p.Thr1148Ala)
c.3496A>G (n.3496A>G)
c.3262A>G (p.Thr1088Ala)
c.3486A>G (n.3486A>G)
c.3061A>G (p.Thr1021Ala)
c.3328A>G (p.Thr1110Ala)
c.2779A>G (p.Thr927Ala)
c.1990A>G (p.Thr664Ala)
c.3817A>G (p.Thr1273Ala)
c.3244A>G (p.Thr1082Ala)
c.3169A>G (p.Thr1057Ala)
c.1846A>G (p.Thr616Ala)
 gnomAD v4
3g.38872246T>GCA352171347SCN11Ac.3442A>C (p.Thr1148Pro)
c.3496A>C (n.3496A>C)
c.3262A>C (p.Thr1088Pro)
c.3486A>C (n.3486A>C)
c.3061A>C (p.Thr1021Pro)
c.3328A>C (p.Thr1110Pro)
c.2779A>C (p.Thr927Pro)
c.1990A>C (p.Thr664Pro)
c.3817A>C (p.Thr1273Pro)
c.3244A>C (p.Thr1082Pro)
c.3169A>C (p.Thr1057Pro)
c.1846A>C (p.Thr616Pro)
 dbSNP
3g.38872246T=CA1358707959SCN11Ac.3442A= (p.Thr1148=)
c.3496A= (n.3496A=)
c.3262A= (p.Thr1088=)
c.3486A= (n.3486A=)
c.3061A= (p.Thr1021=)
c.3328A= (p.Thr1110=)
c.2779A= (p.Thr927=)
c.1990A= (p.Thr664=)
c.3817A= (p.Thr1273=)
c.3244A= (p.Thr1082=)
c.3169A= (p.Thr1057=)
c.1846A= (p.Thr616=)
3g.38872247C>ACA433142092SCN11Ac.3441G>T (p.Arg1147=)
c.3495G>T (n.3495G>T)
c.3261G>T (p.Arg1087=)
c.3485G>T (n.3485G>T)
c.3060G>T (p.Arg1020=)
c.3327G>T (p.Arg1109=)
c.2778G>T (p.Arg926=)
c.1989G>T (p.Arg663=)
c.3816G>T (p.Arg1272=)
c.3243G>T (p.Arg1081=)
c.3168G>T (p.Arg1056=)
c.1845G>T (p.Arg615=)
 gnomAD v4 COSMIC
3g.38872247C>GCA433142093SCN11Ac.3441G>C (p.Arg1147=)
c.3495G>C (n.3495G>C)
c.3261G>C (p.Arg1087=)
c.3485G>C (n.3485G>C)
c.3060G>C (p.Arg1020=)
c.3327G>C (p.Arg1109=)
c.2778G>C (p.Arg926=)
c.1989G>C (p.Arg663=)
c.3816G>C (p.Arg1272=)
c.3243G>C (p.Arg1081=)
c.3168G>C (p.Arg1056=)
c.1845G>C (p.Arg615=)
3g.38872247C>TCA433142094SCN11Ac.3441G>A (p.Arg1147=)
c.3495G>A (n.3495G>A)
c.3261G>A (p.Arg1087=)
c.3485G>A (n.3485G>A)
c.3060G>A (p.Arg1020=)
c.3327G>A (p.Arg1109=)
c.2778G>A (p.Arg926=)
c.1989G>A (p.Arg663=)
c.3816G>A (p.Arg1272=)
c.3243G>A (p.Arg1081=)
c.3168G>A (p.Arg1056=)
c.1845G>A (p.Arg615=)
3g.38872248C>ACA352171348SCN11Ac.3440G>T (p.Arg1147Leu)
c.3494G>T (n.3494G>T)
c.3260G>T (p.Arg1087Leu)
c.3484G>T (n.3484G>T)
c.3059G>T (p.Arg1020Leu)
c.3326G>T (p.Arg1109Leu)
c.2777G>T (p.Arg926Leu)
c.1988G>T (p.Arg663Leu)
c.3815G>T (p.Arg1272Leu)
c.3242G>T (p.Arg1081Leu)
c.3167G>T (p.Arg1056Leu)
c.1844G>T (p.Arg615Leu)
3g.38872248C=CA1358707965SCN11Ac.3440G= (p.Arg1147=)
c.3494G= (n.3494G=)
c.3260G= (p.Arg1087=)
c.3484G= (n.3484G=)
c.3059G= (p.Arg1020=)
c.3326G= (p.Arg1109=)
c.2777G= (p.Arg926=)
c.1988G= (p.Arg663=)
c.3815G= (p.Arg1272=)
c.3242G= (p.Arg1081=)
c.3167G= (p.Arg1056=)
c.1844G= (p.Arg615=)
3g.38872248C>GCA352171349SCN11Ac.3440G>C (p.Arg1147Pro)
c.3494G>C (n.3494G>C)
c.3260G>C (p.Arg1087Pro)
c.3484G>C (n.3484G>C)
c.3059G>C (p.Arg1020Pro)
c.3326G>C (p.Arg1109Pro)
c.2777G>C (p.Arg926Pro)
c.1988G>C (p.Arg663Pro)
c.3815G>C (p.Arg1272Pro)
c.3242G>C (p.Arg1081Pro)
c.3167G>C (p.Arg1056Pro)
c.1844G>C (p.Arg615Pro)
 gnomAD v4
3g.38872248C>TCA2321786SCN11Ac.3440G>A (p.Arg1147Gln)
c.3494G>A (n.3494G>A)
c.3260G>A (p.Arg1087Gln)
c.3484G>A (n.3484G>A)
c.3059G>A (p.Arg1020Gln)
c.3326G>A (p.Arg1109Gln)
c.2777G>A (p.Arg926Gln)
c.1988G>A (p.Arg663Gln)
c.3815G>A (p.Arg1272Gln)
c.3242G>A (p.Arg1081Gln)
c.3167G>A (p.Arg1056Gln)
c.1844G>A (p.Arg615Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38872248_38872249delinsCGCA1358707968SCN11Ac.3439_3440delinsCG (p.Arg1147=)
c.3493_3494delinsCG (n.3493_3494delinsCG)
c.3259_3260delinsCG (p.Arg1087=)
c.3483_3484delinsCG (n.3483_3484delinsCG)
c.3058_3059delinsCG (p.Arg1020=)
c.3325_3326delinsCG (p.Arg1109=)
c.2776_2777delinsCG (p.Arg926=)
c.1987_1988delinsCG (p.Arg663=)
c.3814_3815delinsCG (p.Arg1272=)
c.3241_3242delinsCG (p.Arg1081=)
c.3166_3167delinsCG (p.Arg1056=)
c.1843_1844delinsCG (p.Arg615=)
3g.38872249G>ACA2321787SCN11Ac.3439C>T (p.Arg1147Trp)
c.3493C>T (n.3493C>T)
c.3259C>T (p.Arg1087Trp)
c.3483C>T (n.3483C>T)
c.3058C>T (p.Arg1020Trp)
c.3325C>T (p.Arg1109Trp)
c.2776C>T (p.Arg926Trp)
c.1987C>T (p.Arg663Trp)
c.3814C>T (p.Arg1272Trp)
c.3241C>T (p.Arg1081Trp)
c.3166C>T (p.Arg1056Trp)
c.1843C>T (p.Arg615Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38872249G>CCA352171350SCN11Ac.3439C>G (p.Arg1147Gly)
c.3493C>G (n.3493C>G)
c.3259C>G (p.Arg1087Gly)
c.3483C>G (n.3483C>G)
c.3058C>G (p.Arg1020Gly)
c.3325C>G (p.Arg1109Gly)
c.2776C>G (p.Arg926Gly)
c.1987C>G (p.Arg663Gly)
c.3814C>G (p.Arg1272Gly)
c.3241C>G (p.Arg1081Gly)
c.3166C>G (p.Arg1056Gly)
c.1843C>G (p.Arg615Gly)
3g.38872249G=CA1358707971SCN11Ac.3439C= (p.Arg1147=)
c.3493C= (n.3493C=)
c.3259C= (p.Arg1087=)
c.3483C= (n.3483C=)
c.3058C= (p.Arg1020=)
c.3325C= (p.Arg1109=)
c.2776C= (p.Arg926=)
c.1987C= (p.Arg663=)
c.3814C= (p.Arg1272=)
c.3241C= (p.Arg1081=)
c.3166C= (p.Arg1056=)
c.1843C= (p.Arg615=)
3g.38872249G>TCA433142097SCN11Ac.3439C>A (p.Arg1147=)
c.3493C>A (n.3493C>A)
c.3259C>A (p.Arg1087=)
c.3483C>A (n.3483C>A)
c.3058C>A (p.Arg1020=)
c.3325C>A (p.Arg1109=)
c.2776C>A (p.Arg926=)
c.1987C>A (p.Arg663=)
c.3814C>A (p.Arg1272=)
c.3241C>A (p.Arg1081=)
c.3166C>A (p.Arg1056=)
c.1843C>A (p.Arg615=)
3g.38872250delCA542283952SCN11Ac.3439del (p.Arg1147GlyfsTer6)
c.3493del (n.3493del)
c.3259del (p.Arg1087GlyfsTer6)
c.3483del (n.3483del)
c.3058del (p.Arg1020GlyfsTer6)
c.3325del (p.Arg1109GlyfsTer6)
c.2776del (p.Arg926GlyfsTer6)
c.1987del (p.Arg663GlyfsTer6)
c.3814del (p.Arg1272GlyfsTer6)
c.3241del (p.Arg1081GlyfsTer6)
c.3166del (p.Arg1056GlyfsTer6)
c.1843del (p.Arg615GlyfsTer6)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38872250G>ACA2321788SCN11Ac.3438C>T (p.Phe1146=)
c.3492C>T (n.3492C>T)
c.3258C>T (p.Phe1086=)
c.3482C>T (n.3482C>T)
c.3057C>T (p.Phe1019=)
c.3324C>T (p.Phe1108=)
c.2775C>T (p.Phe925=)
c.1986C>T (p.Phe662=)
c.3813C>T (p.Phe1271=)
c.3240C>T (p.Phe1080=)
c.3165C>T (p.Phe1055=)
c.1842C>T (p.Phe614=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38872250G>CCA352171351SCN11Ac.3438C>G (p.Phe1146Leu)
c.3492C>G (n.3492C>G)
c.3258C>G (p.Phe1086Leu)
c.3482C>G (n.3482C>G)
c.3057C>G (p.Phe1019Leu)
c.3324C>G (p.Phe1108Leu)
c.2775C>G (p.Phe925Leu)
c.1986C>G (p.Phe662Leu)
c.3813C>G (p.Phe1271Leu)
c.3240C>G (p.Phe1080Leu)
c.3165C>G (p.Phe1055Leu)
c.1842C>G (p.Phe614Leu)
 gnomAD v4 COSMIC
3g.38872250G=CA1358707976SCN11Ac.3438C= (p.Phe1146=)
c.3492C= (n.3492C=)
c.3258C= (p.Phe1086=)
c.3482C= (n.3482C=)
c.3057C= (p.Phe1019=)
c.3324C= (p.Phe1108=)
c.2775C= (p.Phe925=)
c.1986C= (p.Phe662=)
c.3813C= (p.Phe1271=)
c.3240C= (p.Phe1080=)
c.3165C= (p.Phe1055=)
c.1842C= (p.Phe614=)
3g.38872250G>TCA352171352SCN11Ac.3438C>A (p.Phe1146Leu)
c.3492C>A (n.3492C>A)
c.3258C>A (p.Phe1086Leu)
c.3482C>A (n.3482C>A)
c.3057C>A (p.Phe1019Leu)
c.3324C>A (p.Phe1108Leu)
c.2775C>A (p.Phe925Leu)
c.1986C>A (p.Phe662Leu)
c.3813C>A (p.Phe1271Leu)
c.3240C>A (p.Phe1080Leu)
c.3165C>A (p.Phe1055Leu)
c.1842C>A (p.Phe614Leu)
3g.38872251A>CCA352171353SCN11Ac.3437T>G (p.Phe1146Cys)
c.3491T>G (n.3491T>G)
c.3257T>G (p.Phe1086Cys)
c.3481T>G (n.3481T>G)
c.3056T>G (p.Phe1019Cys)
c.3323T>G (p.Phe1108Cys)
c.2774T>G (p.Phe925Cys)
c.1985T>G (p.Phe662Cys)
c.3812T>G (p.Phe1271Cys)
c.3239T>G (p.Phe1080Cys)
c.3164T>G (p.Phe1055Cys)
c.1841T>G (p.Phe614Cys)
3g.38872251A>GCA352171354SCN11Ac.3437T>C (p.Phe1146Ser)
c.3491T>C (n.3491T>C)
c.3257T>C (p.Phe1086Ser)
c.3481T>C (n.3481T>C)
c.3056T>C (p.Phe1019Ser)
c.3323T>C (p.Phe1108Ser)
c.2774T>C (p.Phe925Ser)
c.1985T>C (p.Phe662Ser)
c.3812T>C (p.Phe1271Ser)
c.3239T>C (p.Phe1080Ser)
c.3164T>C (p.Phe1055Ser)
c.1841T>C (p.Phe614Ser)
3g.38872251A>TCA352171355SCN11Ac.3437T>A (p.Phe1146Tyr)
c.3491T>A (n.3491T>A)
c.3257T>A (p.Phe1086Tyr)
c.3481T>A (n.3481T>A)
c.3056T>A (p.Phe1019Tyr)
c.3323T>A (p.Phe1108Tyr)
c.2774T>A (p.Phe925Tyr)
c.1985T>A (p.Phe662Tyr)
c.3812T>A (p.Phe1271Tyr)
c.3239T>A (p.Phe1080Tyr)
c.3164T>A (p.Phe1055Tyr)
c.1841T>A (p.Phe614Tyr)
3g.38872252A=CA1358707978SCN11Ac.3436T= (p.Phe1146=)
c.3490T= (n.3490T=)
c.3256T= (p.Phe1086=)
c.3480T= (n.3480T=)
c.3055T= (p.Phe1019=)
c.3322T= (p.Phe1108=)
c.2773T= (p.Phe925=)
c.1984T= (p.Phe662=)
c.3811T= (p.Phe1271=)
c.3238T= (p.Phe1080=)
c.3163T= (p.Phe1055=)
c.1840T= (p.Phe614=)
3g.38872252A>CCA352171356SCN11Ac.3436T>G (p.Phe1146Val)
c.3490T>G (n.3490T>G)
c.3256T>G (p.Phe1086Val)
c.3480T>G (n.3480T>G)
c.3055T>G (p.Phe1019Val)
c.3322T>G (p.Phe1108Val)
c.2773T>G (p.Phe925Val)
c.1984T>G (p.Phe662Val)
c.3811T>G (p.Phe1271Val)
c.3238T>G (p.Phe1080Val)
c.3163T>G (p.Phe1055Val)
c.1840T>G (p.Phe614Val)
3g.38872252A>GCA352171357SCN11Ac.3436T>C (p.Phe1146Leu)
c.3490T>C (n.3490T>C)
c.3256T>C (p.Phe1086Leu)
c.3480T>C (n.3480T>C)
c.3055T>C (p.Phe1019Leu)
c.3322T>C (p.Phe1108Leu)
c.2773T>C (p.Phe925Leu)
c.1984T>C (p.Phe662Leu)
c.3811T>C (p.Phe1271Leu)
c.3238T>C (p.Phe1080Leu)
c.3163T>C (p.Phe1055Leu)
c.1840T>C (p.Phe614Leu)
 dbSNP gnomAD v3 gnomAD v4
3g.38872252A>TCA352171358SCN11Ac.3436T>A (p.Phe1146Ile)
c.3490T>A (n.3490T>A)
c.3256T>A (p.Phe1086Ile)
c.3480T>A (n.3480T>A)
c.3055T>A (p.Phe1019Ile)
c.3322T>A (p.Phe1108Ile)
c.2773T>A (p.Phe925Ile)
c.1984T>A (p.Phe662Ile)
c.3811T>A (p.Phe1271Ile)
c.3238T>A (p.Phe1080Ile)
c.3163T>A (p.Phe1055Ile)
c.1840T>A (p.Phe614Ile)
3g.38872253G>ACA433142100SCN11Ac.3435C>T (p.Ser1145=)
c.3489C>T (n.3489C>T)
c.3255C>T (p.Ser1085=)
c.3479C>T (n.3479C>T)
c.3054C>T (p.Ser1018=)
c.3321C>T (p.Ser1107=)
c.2772C>T (p.Ser924=)
c.1983C>T (p.Ser661=)
c.3810C>T (p.Ser1270=)
c.3237C>T (p.Ser1079=)
c.3162C>T (p.Ser1054=)
c.1839C>T (p.Ser613=)
 COSMIC
3g.38872253G>CCA433142101SCN11Ac.3435C>G (p.Ser1145=)
c.3489C>G (n.3489C>G)
c.3255C>G (p.Ser1085=)
c.3479C>G (n.3479C>G)
c.3054C>G (p.Ser1018=)
c.3321C>G (p.Ser1107=)
c.2772C>G (p.Ser924=)
c.1983C>G (p.Ser661=)
c.3810C>G (p.Ser1270=)
c.3237C>G (p.Ser1079=)
c.3162C>G (p.Ser1054=)
c.1839C>G (p.Ser613=)
3g.38872253G>TCA433142102SCN11Ac.3435C>A (p.Ser1145=)
c.3489C>A (n.3489C>A)
c.3255C>A (p.Ser1085=)
c.3479C>A (n.3479C>A)
c.3054C>A (p.Ser1018=)
c.3321C>A (p.Ser1107=)
c.2772C>A (p.Ser924=)
c.1983C>A (p.Ser661=)
c.3810C>A (p.Ser1270=)
c.3237C>A (p.Ser1079=)
c.3162C>A (p.Ser1054=)
c.1839C>A (p.Ser613=)
3g.38872254G>ACA352171359SCN11Ac.3434C>T (p.Ser1145Phe)
c.3488C>T (n.3488C>T)
c.3254C>T (p.Ser1085Phe)
c.3478C>T (n.3478C>T)
c.3053C>T (p.Ser1018Phe)
c.3320C>T (p.Ser1107Phe)
c.2771C>T (p.Ser924Phe)
c.1982C>T (p.Ser661Phe)
c.3809C>T (p.Ser1270Phe)
c.3236C>T (p.Ser1079Phe)
c.3161C>T (p.Ser1054Phe)
c.1838C>T (p.Ser613Phe)
 gnomAD v4
3g.38872254G>CCA352171360SCN11Ac.3434C>G (p.Ser1145Cys)
c.3488C>G (n.3488C>G)
c.3254C>G (p.Ser1085Cys)
c.3478C>G (n.3478C>G)
c.3053C>G (p.Ser1018Cys)
c.3320C>G (p.Ser1107Cys)
c.2771C>G (p.Ser924Cys)
c.1982C>G (p.Ser661Cys)
c.3809C>G (p.Ser1270Cys)
c.3236C>G (p.Ser1079Cys)
c.3161C>G (p.Ser1054Cys)
c.1838C>G (p.Ser613Cys)
3g.38872254G>TCA352171361SCN11Ac.3434C>A (p.Ser1145Tyr)
c.3488C>A (n.3488C>A)
c.3254C>A (p.Ser1085Tyr)
c.3478C>A (n.3478C>A)
c.3053C>A (p.Ser1018Tyr)
c.3320C>A (p.Ser1107Tyr)
c.2771C>A (p.Ser924Tyr)
c.1982C>A (p.Ser661Tyr)
c.3809C>A (p.Ser1270Tyr)
c.3236C>A (p.Ser1079Tyr)
c.3161C>A (p.Ser1054Tyr)
c.1838C>A (p.Ser613Tyr)
 gnomAD v4
3g.38872255A>CCA352171362SCN11Ac.3433T>G (p.Ser1145Ala)
c.3487T>G (n.3487T>G)
c.3253T>G (p.Ser1085Ala)
c.3477T>G (n.3477T>G)
c.3052T>G (p.Ser1018Ala)
c.3319T>G (p.Ser1107Ala)
c.2770T>G (p.Ser924Ala)
c.1981T>G (p.Ser661Ala)
c.3808T>G (p.Ser1270Ala)
c.3235T>G (p.Ser1079Ala)
c.3160T>G (p.Ser1054Ala)
c.1837T>G (p.Ser613Ala)
3g.38872255A>GCA352171363SCN11Ac.3433T>C (p.Ser1145Pro)
c.3487T>C (n.3487T>C)
c.3253T>C (p.Ser1085Pro)
c.3477T>C (n.3477T>C)
c.3052T>C (p.Ser1018Pro)
c.3319T>C (p.Ser1107Pro)
c.2770T>C (p.Ser924Pro)
c.1981T>C (p.Ser661Pro)
c.3808T>C (p.Ser1270Pro)
c.3235T>C (p.Ser1079Pro)
c.3160T>C (p.Ser1054Pro)
c.1837T>C (p.Ser613Pro)
 gnomAD v4 COSMIC
3g.38872255A>TCA352171364SCN11Ac.3433T>A (p.Ser1145Thr)
c.3487T>A (n.3487T>A)
c.3253T>A (p.Ser1085Thr)
c.3477T>A (n.3477T>A)
c.3052T>A (p.Ser1018Thr)
c.3319T>A (p.Ser1107Thr)
c.2770T>A (p.Ser924Thr)
c.1981T>A (p.Ser661Thr)
c.3808T>A (p.Ser1270Thr)
c.3235T>A (p.Ser1079Thr)
c.3160T>A (p.Ser1054Thr)
c.1837T>A (p.Ser613Thr)
3g.38872256C>ACA352171365SCN11Ac.3432G>T (p.Lys1144Asn)
c.3486G>T (n.3486G>T)
c.3252G>T (p.Lys1084Asn)
c.3476G>T (n.3476G>T)
c.3051G>T (p.Lys1017Asn)
c.3318G>T (p.Lys1106Asn)
c.2769G>T (p.Lys923Asn)
c.1980G>T (p.Lys660Asn)
c.3807G>T (p.Lys1269Asn)
c.3234G>T (p.Lys1078Asn)
c.3159G>T (p.Lys1053Asn)
c.1836G>T (p.Lys612Asn)
3g.38872256C>GCA352171366SCN11Ac.3432G>C (p.Lys1144Asn)
c.3486G>C (n.3486G>C)
c.3252G>C (p.Lys1084Asn)
c.3476G>C (n.3476G>C)
c.3051G>C (p.Lys1017Asn)
c.3318G>C (p.Lys1106Asn)
c.2769G>C (p.Lys923Asn)
c.1980G>C (p.Lys660Asn)
c.3807G>C (p.Lys1269Asn)
c.3234G>C (p.Lys1078Asn)
c.3159G>C (p.Lys1053Asn)
c.1836G>C (p.Lys612Asn)
3g.38872256C>TCA433142104SCN11Ac.3432G>A (p.Lys1144=)
c.3486G>A (n.3486G>A)
c.3252G>A (p.Lys1084=)
c.3476G>A (n.3476G>A)
c.3051G>A (p.Lys1017=)
c.3318G>A (p.Lys1106=)
c.2769G>A (p.Lys923=)
c.1980G>A (p.Lys660=)
c.3807G>A (p.Lys1269=)
c.3234G>A (p.Lys1078=)
c.3159G>A (p.Lys1053=)
c.1836G>A (p.Lys612=)
3g.38872257T>ACA352171367SCN11Ac.3431A>T (p.Lys1144Met)
c.3485A>T (n.3485A>T)
c.3251A>T (p.Lys1084Met)
c.3475A>T (n.3475A>T)
c.3050A>T (p.Lys1017Met)
c.3317A>T (p.Lys1106Met)
c.2768A>T (p.Lys923Met)
c.1979A>T (p.Lys660Met)
c.3806A>T (p.Lys1269Met)
c.3233A>T (p.Lys1078Met)
c.3158A>T (p.Lys1053Met)
c.1835A>T (p.Lys612Met)
3g.38872257T>CCA352171368SCN11Ac.3431A>G (p.Lys1144Arg)
c.3485A>G (n.3485A>G)
c.3251A>G (p.Lys1084Arg)
c.3475A>G (n.3475A>G)
c.3050A>G (p.Lys1017Arg)
c.3317A>G (p.Lys1106Arg)
c.2768A>G (p.Lys923Arg)
c.1979A>G (p.Lys660Arg)
c.3806A>G (p.Lys1269Arg)
c.3233A>G (p.Lys1078Arg)
c.3158A>G (p.Lys1053Arg)
c.1835A>G (p.Lys612Arg)
 dbSNP gnomAD v4
3g.38872257T>GCA352171369SCN11Ac.3431A>C (p.Lys1144Thr)
c.3485A>C (n.3485A>C)
c.3251A>C (p.Lys1084Thr)
c.3475A>C (n.3475A>C)
c.3050A>C (p.Lys1017Thr)
c.3317A>C (p.Lys1106Thr)
c.2768A>C (p.Lys923Thr)
c.1979A>C (p.Lys660Thr)
c.3806A>C (p.Lys1269Thr)
c.3233A>C (p.Lys1078Thr)
c.3158A>C (p.Lys1053Thr)
c.1835A>C (p.Lys612Thr)
3g.38872257T=CA1358707982SCN11Ac.3431A= (p.Lys1144=)
c.3485A= (n.3485A=)
c.3251A= (p.Lys1084=)
c.3475A= (n.3475A=)
c.3050A= (p.Lys1017=)
c.3317A= (p.Lys1106=)
c.2768A= (p.Lys923=)
c.1979A= (p.Lys660=)
c.3806A= (p.Lys1269=)
c.3233A= (p.Lys1078=)
c.3158A= (p.Lys1053=)
c.1835A= (p.Lys612=)
3g.38872258T>ACA352171370SCN11Ac.3430A>T (p.Lys1144Ter)
c.3484A>T (n.3484A>T)
c.3250A>T (p.Lys1084Ter)
c.3474A>T (n.3474A>T)
c.3049A>T (p.Lys1017Ter)
c.3316A>T (p.Lys1106Ter)
c.2767A>T (p.Lys923Ter)
c.1978A>T (p.Lys660Ter)
c.3805A>T (p.Lys1269Ter)
c.3232A>T (p.Lys1078Ter)
c.3157A>T (p.Lys1053Ter)
c.1834A>T (p.Lys612Ter)
 dbSNP
3g.38872258T>CCA352171371SCN11Ac.3430A>G (p.Lys1144Glu)
c.3484A>G (n.3484A>G)
c.3250A>G (p.Lys1084Glu)
c.3474A>G (n.3474A>G)
c.3049A>G (p.Lys1017Glu)
c.3316A>G (p.Lys1106Glu)
c.2767A>G (p.Lys923Glu)
c.1978A>G (p.Lys660Glu)
c.3805A>G (p.Lys1269Glu)
c.3232A>G (p.Lys1078Glu)
c.3157A>G (p.Lys1053Glu)
c.1834A>G (p.Lys612Glu)
3g.38872258T>GCA352171372SCN11Ac.3430A>C (p.Lys1144Gln)
c.3484A>C (n.3484A>C)
c.3250A>C (p.Lys1084Gln)
c.3474A>C (n.3474A>C)
c.3049A>C (p.Lys1017Gln)
c.3316A>C (p.Lys1106Gln)
c.2767A>C (p.Lys923Gln)
c.1978A>C (p.Lys660Gln)
c.3805A>C (p.Lys1269Gln)
c.3232A>C (p.Lys1078Gln)
c.3157A>C (p.Lys1053Gln)
c.1834A>C (p.Lys612Gln)
3g.38872258T=CA1358707987SCN11Ac.3430A= (p.Lys1144=)
c.3484A= (n.3484A=)
c.3250A= (p.Lys1084=)
c.3474A= (n.3474A=)
c.3049A= (p.Lys1017=)
c.3316A= (p.Lys1106=)
c.2767A= (p.Lys923=)
c.1978A= (p.Lys660=)
c.3805A= (p.Lys1269=)
c.3232A= (p.Lys1078=)
c.3157A= (p.Lys1053=)
c.1834A= (p.Lys612=)
3g.38872259delCA2577554745SCN11Ac.3429del (p.Lys1144SerfsTer9)
c.3483del (n.3483del)
c.3249del (p.Lys1084SerfsTer9)
c.3473del (n.3473del)
c.3048del (p.Lys1017SerfsTer9)
c.3315del (p.Lys1106SerfsTer9)
c.2766del (p.Lys923SerfsTer9)
c.1977del (p.Lys660SerfsTer9)
c.3804del (p.Lys1269SerfsTer9)
c.3231del (p.Lys1078SerfsTer9)
c.3156del (p.Lys1053SerfsTer9)
c.1833del (p.Lys612SerfsTer9)
3g.38872259C>ACA352171373SCN11Ac.3429G>T (p.Leu1143Phe)
c.3483G>T (n.3483G>T)
c.3249G>T (p.Leu1083Phe)
c.3473G>T (n.3473G>T)
c.3048G>T (p.Leu1016Phe)
c.3315G>T (p.Leu1105Phe)
c.2766G>T (p.Leu922Phe)
c.1977G>T (p.Leu659Phe)
c.3804G>T (p.Leu1268Phe)
c.3231G>T (p.Leu1077Phe)
c.3156G>T (p.Leu1052Phe)
c.1833G>T (p.Leu611Phe)
3g.38872259C>GCA352171374SCN11Ac.3429G>C (p.Leu1143Phe)
c.3483G>C (n.3483G>C)
c.3249G>C (p.Leu1083Phe)
c.3473G>C (n.3473G>C)
c.3048G>C (p.Leu1016Phe)
c.3315G>C (p.Leu1105Phe)
c.2766G>C (p.Leu922Phe)
c.1977G>C (p.Leu659Phe)
c.3804G>C (p.Leu1268Phe)
c.3231G>C (p.Leu1077Phe)
c.3156G>C (p.Leu1052Phe)
c.1833G>C (p.Leu611Phe)
3g.38872259C>TCA433142107SCN11Ac.3429G>A (p.Leu1143=)
c.3483G>A (n.3483G>A)
c.3249G>A (p.Leu1083=)
c.3473G>A (n.3473G>A)
c.3048G>A (p.Leu1016=)
c.3315G>A (p.Leu1105=)
c.2766G>A (p.Leu922=)
c.1977G>A (p.Leu659=)
c.3804G>A (p.Leu1268=)
c.3231G>A (p.Leu1077=)
c.3156G>A (p.Leu1052=)
c.1833G>A (p.Leu611=)
3g.38872260A=CA1358707989SCN11Ac.3428T= (p.Leu1143=)
c.3482T= (n.3482T=)
c.3248T= (p.Leu1083=)
c.3472T= (n.3472T=)
c.3047T= (p.Leu1016=)
c.3314T= (p.Leu1105=)
c.2765T= (p.Leu922=)
c.1976T= (p.Leu659=)
c.3803T= (p.Leu1268=)
c.3230T= (p.Leu1077=)
c.3155T= (p.Leu1052=)
c.1832T= (p.Leu611=)
3g.38872260A>CCA352171375SCN11Ac.3428T>G (p.Leu1143Trp)
c.3482T>G (n.3482T>G)
c.3248T>G (p.Leu1083Trp)
c.3472T>G (n.3472T>G)
c.3047T>G (p.Leu1016Trp)
c.3314T>G (p.Leu1105Trp)
c.2765T>G (p.Leu922Trp)
c.1976T>G (p.Leu659Trp)
c.3803T>G (p.Leu1268Trp)
c.3230T>G (p.Leu1077Trp)
c.3155T>G (p.Leu1052Trp)
c.1832T>G (p.Leu611Trp)
3g.38872260A>GCA352171376SCN11Ac.3428T>C (p.Leu1143Ser)
c.3482T>C (n.3482T>C)
c.3248T>C (p.Leu1083Ser)
c.3472T>C (n.3472T>C)
c.3047T>C (p.Leu1016Ser)
c.3314T>C (p.Leu1105Ser)
c.2765T>C (p.Leu922Ser)
c.1976T>C (p.Leu659Ser)
c.3803T>C (p.Leu1268Ser)
c.3230T>C (p.Leu1077Ser)
c.3155T>C (p.Leu1052Ser)
c.1832T>C (p.Leu611Ser)
 COSMIC
3g.38872260A>TCA352171377SCN11Ac.3428T>A (p.Leu1143Ter)
c.3482T>A (n.3482T>A)
c.3248T>A (p.Leu1083Ter)
c.3472T>A (n.3472T>A)
c.3047T>A (p.Leu1016Ter)
c.3314T>A (p.Leu1105Ter)
c.2765T>A (p.Leu922Ter)
c.1976T>A (p.Leu659Ter)
c.3803T>A (p.Leu1268Ter)
c.3230T>A (p.Leu1077Ter)
c.3155T>A (p.Leu1052Ter)
c.1832T>A (p.Leu611Ter)
 dbSNP gnomAD v2 gnomAD v4
3g.38872261A=CA1358707992SCN11Ac.3427T= (p.Leu1143=)
c.3481T= (n.3481T=)
c.3247T= (p.Leu1083=)
c.3471T= (n.3471T=)
c.3046T= (p.Leu1016=)
c.3313T= (p.Leu1105=)
c.2764T= (p.Leu922=)
c.1975T= (p.Leu659=)
c.3802T= (p.Leu1268=)
c.3229T= (p.Leu1077=)
c.3154T= (p.Leu1052=)
c.1831T= (p.Leu611=)
3g.38872261A>CCA352171378SCN11Ac.3427T>G (p.Leu1143Val)
c.3481T>G (n.3481T>G)
c.3247T>G (p.Leu1083Val)
c.3471T>G (n.3471T>G)
c.3046T>G (p.Leu1016Val)
c.3313T>G (p.Leu1105Val)
c.2764T>G (p.Leu922Val)
c.1975T>G (p.Leu659Val)
c.3802T>G (p.Leu1268Val)
c.3229T>G (p.Leu1077Val)
c.3154T>G (p.Leu1052Val)
c.1831T>G (p.Leu611Val)
3g.38872261A>GCA2321789SCN11Ac.3427T>C (p.Leu1143=)
c.3481T>C (n.3481T>C)
c.3247T>C (p.Leu1083=)
c.3471T>C (n.3471T>C)
c.3046T>C (p.Leu1016=)
c.3313T>C (p.Leu1105=)
c.2764T>C (p.Leu922=)
c.1975T>C (p.Leu659=)
c.3802T>C (p.Leu1268=)
c.3229T>C (p.Leu1077=)
c.3154T>C (p.Leu1052=)
c.1831T>C (p.Leu611=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38872261A>TCA72980502SCN11Ac.3427T>A (p.Leu1143Met)
c.3481T>A (n.3481T>A)
c.3247T>A (p.Leu1083Met)
c.3471T>A (n.3471T>A)
c.3046T>A (p.Leu1016Met)
c.3313T>A (p.Leu1105Met)
c.2764T>A (p.Leu922Met)
c.1975T>A (p.Leu659Met)
c.3802T>A (p.Leu1268Met)
c.3229T>A (p.Leu1077Met)
c.3154T>A (p.Leu1052Met)
c.1831T>A (p.Leu611Met)
 dbSNP
3g.38872262T>ACA352171379SCN11Ac.3426A>T (p.Glu1142Asp)
c.3480A>T (n.3480A>T)
c.3246A>T (p.Glu1082Asp)
c.3470A>T (n.3470A>T)
c.3045A>T (p.Glu1015Asp)
c.3312A>T (p.Glu1104Asp)
c.2763A>T (p.Glu921Asp)
c.1974A>T (p.Glu658Asp)
c.3801A>T (p.Glu1267Asp)
c.3228A>T (p.Glu1076Asp)
c.3153A>T (p.Glu1051Asp)
c.1830A>T (p.Glu610Asp)
3g.38872262T>CCA433142113SCN11Ac.3426A>G (p.Glu1142=)
c.3480A>G (n.3480A>G)
c.3246A>G (p.Glu1082=)
c.3470A>G (n.3470A>G)
c.3045A>G (p.Glu1015=)
c.3312A>G (p.Glu1104=)
c.2763A>G (p.Glu921=)
c.1974A>G (p.Glu658=)
c.3801A>G (p.Glu1267=)
c.3228A>G (p.Glu1076=)
c.3153A>G (p.Glu1051=)
c.1830A>G (p.Glu610=)
 ClinVar dbSNP gnomAD v4
3g.38872262T>GCA352171380SCN11Ac.3426A>C (p.Glu1142Asp)
c.3480A>C (n.3480A>C)
c.3246A>C (p.Glu1082Asp)
c.3470A>C (n.3470A>C)
c.3045A>C (p.Glu1015Asp)
c.3312A>C (p.Glu1104Asp)
c.2763A>C (p.Glu921Asp)
c.1974A>C (p.Glu658Asp)
c.3801A>C (p.Glu1267Asp)
c.3228A>C (p.Glu1076Asp)
c.3153A>C (p.Glu1051Asp)
c.1830A>C (p.Glu610Asp)
3g.38872262T=CA1358707994SCN11Ac.3426A= (p.Glu1142=)
c.3480A= (n.3480A=)
c.3246A= (p.Glu1082=)
c.3470A= (n.3470A=)
c.3045A= (p.Glu1015=)
c.3312A= (p.Glu1104=)
c.2763A= (p.Glu921=)
c.1974A= (p.Glu658=)
c.3801A= (p.Glu1267=)
c.3228A= (p.Glu1076=)
c.3153A= (p.Glu1051=)
c.1830A= (p.Glu610=)
3g.38872263T>ACA352171381SCN11Ac.3425A>T (p.Glu1142Val)
c.3479A>T (n.3479A>T)
c.3245A>T (p.Glu1082Val)
c.3469A>T (n.3469A>T)
c.3044A>T (p.Glu1015Val)
c.3311A>T (p.Glu1104Val)
c.2762A>T (p.Glu921Val)
c.1973A>T (p.Glu658Val)
c.3800A>T (p.Glu1267Val)
c.3227A>T (p.Glu1076Val)
c.3152A>T (p.Glu1051Val)
c.1829A>T (p.Glu610Val)
3g.38872263T>CCA352171382SCN11Ac.3425A>G (p.Glu1142Gly)
c.3479A>G (n.3479A>G)
c.3245A>G (p.Glu1082Gly)
c.3469A>G (n.3469A>G)
c.3044A>G (p.Glu1015Gly)
c.3311A>G (p.Glu1104Gly)
c.2762A>G (p.Glu921Gly)
c.1973A>G (p.Glu658Gly)
c.3800A>G (p.Glu1267Gly)
c.3227A>G (p.Glu1076Gly)
c.3152A>G (p.Glu1051Gly)
c.1829A>G (p.Glu610Gly)
 gnomAD v4
3g.38872263T>GCA352171383SCN11Ac.3425A>C (p.Glu1142Ala)
c.3479A>C (n.3479A>C)
c.3245A>C (p.Glu1082Ala)
c.3469A>C (n.3469A>C)
c.3044A>C (p.Glu1015Ala)
c.3311A>C (p.Glu1104Ala)
c.2762A>C (p.Glu921Ala)
c.1973A>C (p.Glu658Ala)
c.3800A>C (p.Glu1267Ala)
c.3227A>C (p.Glu1076Ala)
c.3152A>C (p.Glu1051Ala)
c.1829A>C (p.Glu610Ala)
3g.38872264C>ACA352171384SCN11Ac.3424G>T (p.Glu1142Ter)
c.3478G>T (n.3478G>T)
c.3244G>T (p.Glu1082Ter)
c.3468G>T (n.3468G>T)
c.3043G>T (p.Glu1015Ter)
c.3310G>T (p.Glu1104Ter)
c.2761G>T (p.Glu921Ter)
c.1972G>T (p.Glu658Ter)
c.3799G>T (p.Glu1267Ter)
c.3226G>T (p.Glu1076Ter)
c.3151G>T (p.Glu1051Ter)
c.1828G>T (p.Glu610Ter)
 dbSNP
3g.38872264C=CA1358707997SCN11Ac.3424G= (p.Glu1142=)
c.3478G= (n.3478G=)
c.3244G= (p.Glu1082=)
c.3468G= (n.3468G=)
c.3043G= (p.Glu1015=)
c.3310G= (p.Glu1104=)
c.2761G= (p.Glu921=)
c.1972G= (p.Glu658=)
c.3799G= (p.Glu1267=)
c.3226G= (p.Glu1076=)
c.3151G= (p.Glu1051=)
c.1828G= (p.Glu610=)
3g.38872264C>GCA352171385SCN11Ac.3424G>C (p.Glu1142Gln)
c.3478G>C (n.3478G>C)
c.3244G>C (p.Glu1082Gln)
c.3468G>C (n.3468G>C)
c.3043G>C (p.Glu1015Gln)
c.3310G>C (p.Glu1104Gln)
c.2761G>C (p.Glu921Gln)
c.1972G>C (p.Glu658Gln)
c.3799G>C (p.Glu1267Gln)
c.3226G>C (p.Glu1076Gln)
c.3151G>C (p.Glu1051Gln)
c.1828G>C (p.Glu610Gln)
3g.38872264C>TCA352171386SCN11Ac.3424G>A (p.Glu1142Lys)
c.3478G>A (n.3478G>A)
c.3244G>A (p.Glu1082Lys)
c.3468G>A (n.3468G>A)
c.3043G>A (p.Glu1015Lys)
c.3310G>A (p.Glu1104Lys)
c.2761G>A (p.Glu921Lys)
c.1972G>A (p.Glu658Lys)
c.3799G>A (p.Glu1267Lys)
c.3226G>A (p.Glu1076Lys)
c.3151G>A (p.Glu1051Lys)
c.1828G>A (p.Glu610Lys)
 dbSNP gnomAD v2 gnomAD v4
3g.38872265C>ACA352171387SCN11Ac.3423G>T (p.Met1141Ile)
c.3477G>T (n.3477G>T)
c.3243G>T (p.Met1081Ile)
c.3467G>T (n.3467G>T)
c.3042G>T (p.Met1014Ile)
c.3309G>T (p.Met1103Ile)
c.2760G>T (p.Met920Ile)
c.1971G>T (p.Met657Ile)
c.3798G>T (p.Met1266Ile)
c.3225G>T (p.Met1075Ile)
c.3150G>T (p.Met1050Ile)
c.1827G>T (p.Met609Ile)
 gnomAD v4
3g.38872265C>GCA352171388SCN11Ac.3423G>C (p.Met1141Ile)
c.3477G>C (n.3477G>C)
c.3243G>C (p.Met1081Ile)
c.3467G>C (n.3467G>C)
c.3042G>C (p.Met1014Ile)
c.3309G>C (p.Met1103Ile)
c.2760G>C (p.Met920Ile)
c.1971G>C (p.Met657Ile)
c.3798G>C (p.Met1266Ile)
c.3225G>C (p.Met1075Ile)
c.3150G>C (p.Met1050Ile)
c.1827G>C (p.Met609Ile)
3g.38872265C>TCA352171389SCN11Ac.3423G>A (p.Met1141Ile)
c.3477G>A (n.3477G>A)
c.3243G>A (p.Met1081Ile)
c.3467G>A (n.3467G>A)
c.3042G>A (p.Met1014Ile)
c.3309G>A (p.Met1103Ile)
c.2760G>A (p.Met920Ile)
c.1971G>A (p.Met657Ile)
c.3798G>A (p.Met1266Ile)
c.3225G>A (p.Met1075Ile)
c.3150G>A (p.Met1050Ile)
c.1827G>A (p.Met609Ile)
3g.38872266A=CA1358708002SCN11Ac.3422T= (p.Met1141=)
c.3476T= (n.3476T=)
c.3242T= (p.Met1081=)
c.3466T= (n.3466T=)
c.3041T= (p.Met1014=)
c.3308T= (p.Met1103=)
c.2759T= (p.Met920=)
c.1970T= (p.Met657=)
c.3797T= (p.Met1266=)
c.3224T= (p.Met1075=)
c.3149T= (p.Met1050=)
c.1826T= (p.Met609=)
3g.38872266A>CCA352171390SCN11Ac.3422T>G (p.Met1141Arg)
c.3476T>G (n.3476T>G)
c.3242T>G (p.Met1081Arg)
c.3466T>G (n.3466T>G)
c.3041T>G (p.Met1014Arg)
c.3308T>G (p.Met1103Arg)
c.2759T>G (p.Met920Arg)
c.1970T>G (p.Met657Arg)
c.3797T>G (p.Met1266Arg)
c.3224T>G (p.Met1075Arg)
c.3149T>G (p.Met1050Arg)
c.1826T>G (p.Met609Arg)
3g.38872266A>GCA2321790SCN11Ac.3422T>C (p.Met1141Thr)
c.3476T>C (n.3476T>C)
c.3242T>C (p.Met1081Thr)
c.3466T>C (n.3466T>C)
c.3041T>C (p.Met1014Thr)
c.3308T>C (p.Met1103Thr)
c.2759T>C (p.Met920Thr)
c.1970T>C (p.Met657Thr)
c.3797T>C (p.Met1266Thr)
c.3224T>C (p.Met1075Thr)
c.3149T>C (p.Met1050Thr)
c.1826T>C (p.Met609Thr)
 ClinVar dbSNP ExAC gnomAD v2
3g.38872266A>TCA352171391SCN11Ac.3422T>A (p.Met1141Lys)
c.3476T>A (n.3476T>A)
c.3242T>A (p.Met1081Lys)
c.3466T>A (n.3466T>A)
c.3041T>A (p.Met1014Lys)
c.3308T>A (p.Met1103Lys)
c.2759T>A (p.Met920Lys)
c.1970T>A (p.Met657Lys)
c.3797T>A (p.Met1266Lys)
c.3224T>A (p.Met1075Lys)
c.3149T>A (p.Met1050Lys)
c.1826T>A (p.Met609Lys)
3g.38872267T>ACA352171392SCN11Ac.3421A>T (p.Met1141Leu)
c.3475A>T (n.3475A>T)
c.3241A>T (p.Met1081Leu)
c.3465A>T (n.3465A>T)
c.3040A>T (p.Met1014Leu)
c.3307A>T (p.Met1103Leu)
c.2758A>T (p.Met920Leu)
c.1969A>T (p.Met657Leu)
c.3796A>T (p.Met1266Leu)
c.3223A>T (p.Met1075Leu)
c.3148A>T (p.Met1050Leu)
c.1825A>T (p.Met609Leu)
3g.38872267T>CCA2321791SCN11Ac.3421A>G (p.Met1141Val)
c.3475A>G (n.3475A>G)
c.3241A>G (p.Met1081Val)
c.3465A>G (n.3465A>G)
c.3040A>G (p.Met1014Val)
c.3307A>G (p.Met1103Val)
c.2758A>G (p.Met920Val)
c.1969A>G (p.Met657Val)
c.3796A>G (p.Met1266Val)
c.3223A>G (p.Met1075Val)
c.3148A>G (p.Met1050Val)
c.1825A>G (p.Met609Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38872267T>GCA352171393SCN11Ac.3421A>C (p.Met1141Leu)
c.3475A>C (n.3475A>C)
c.3241A>C (p.Met1081Leu)
c.3465A>C (n.3465A>C)
c.3040A>C (p.Met1014Leu)
c.3307A>C (p.Met1103Leu)
c.2758A>C (p.Met920Leu)
c.1969A>C (p.Met657Leu)
c.3796A>C (p.Met1266Leu)
c.3223A>C (p.Met1075Leu)
c.3148A>C (p.Met1050Leu)
c.1825A>C (p.Met609Leu)
3g.38872267T=CA1358708004SCN11Ac.3421A= (p.Met1141=)
c.3475A= (n.3475A=)
c.3241A= (p.Met1081=)
c.3465A= (n.3465A=)
c.3040A= (p.Met1014=)
c.3307A= (p.Met1103=)
c.2758A= (p.Met920=)
c.1969A= (p.Met657=)
c.3796A= (p.Met1266=)
c.3223A= (p.Met1075=)
c.3148A= (p.Met1050=)
c.1825A= (p.Met609=)
3g.38872268T>ACA352171394SCN11Ac.3420A>T (p.Leu1140Phe)
c.3474A>T (n.3474A>T)
c.3240A>T (p.Leu1080Phe)
c.3464A>T (n.3464A>T)
c.3039A>T (p.Leu1013Phe)
c.3306A>T (p.Leu1102Phe)
c.2757A>T (p.Leu919Phe)
c.1968A>T (p.Leu656Phe)
c.3795A>T (p.Leu1265Phe)
c.3222A>T (p.Leu1074Phe)
c.3147A>T (p.Leu1049Phe)
c.1824A>T (p.Leu608Phe)
3g.38872268T>CCA433142119SCN11Ac.3420A>G (p.Leu1140=)
c.3474A>G (n.3474A>G)
c.3240A>G (p.Leu1080=)
c.3464A>G (n.3464A>G)
c.3039A>G (p.Leu1013=)
c.3306A>G (p.Leu1102=)
c.2757A>G (p.Leu919=)
c.1968A>G (p.Leu656=)
c.3795A>G (p.Leu1265=)
c.3222A>G (p.Leu1074=)
c.3147A>G (p.Leu1049=)
c.1824A>G (p.Leu608=)
3g.38872268T>GCA352171395SCN11Ac.3420A>C (p.Leu1140Phe)
c.3474A>C (n.3474A>C)
c.3240A>C (p.Leu1080Phe)
c.3464A>C (n.3464A>C)
c.3039A>C (p.Leu1013Phe)
c.3306A>C (p.Leu1102Phe)
c.2757A>C (p.Leu919Phe)
c.1968A>C (p.Leu656Phe)
c.3795A>C (p.Leu1265Phe)
c.3222A>C (p.Leu1074Phe)
c.3147A>C (p.Leu1049Phe)
c.1824A>C (p.Leu608Phe)
3g.38872269A>CCA352171396SCN11Ac.3419T>G (p.Leu1140Ter)
c.3473T>G (n.3473T>G)
c.3239T>G (p.Leu1080Ter)
c.3463T>G (n.3463T>G)
c.3038T>G (p.Leu1013Ter)
c.3305T>G (p.Leu1102Ter)
c.2756T>G (p.Leu919Ter)
c.1967T>G (p.Leu656Ter)
c.3794T>G (p.Leu1265Ter)
c.3221T>G (p.Leu1074Ter)
c.3146T>G (p.Leu1049Ter)
c.1823T>G (p.Leu608Ter)
3g.38872269A>GCA352171397SCN11Ac.3419T>C (p.Leu1140Ser)
c.3473T>C (n.3473T>C)
c.3239T>C (p.Leu1080Ser)
c.3463T>C (n.3463T>C)
c.3038T>C (p.Leu1013Ser)
c.3305T>C (p.Leu1102Ser)
c.2756T>C (p.Leu919Ser)
c.1967T>C (p.Leu656Ser)
c.3794T>C (p.Leu1265Ser)
c.3221T>C (p.Leu1074Ser)
c.3146T>C (p.Leu1049Ser)
c.1823T>C (p.Leu608Ser)
3g.38872269A>TCA352171398SCN11Ac.3419T>A (p.Leu1140Ter)
c.3473T>A (n.3473T>A)
c.3239T>A (p.Leu1080Ter)
c.3463T>A (n.3463T>A)
c.3038T>A (p.Leu1013Ter)
c.3305T>A (p.Leu1102Ter)
c.2756T>A (p.Leu919Ter)
c.1967T>A (p.Leu656Ter)
c.3794T>A (p.Leu1265Ter)
c.3221T>A (p.Leu1074Ter)
c.3146T>A (p.Leu1049Ter)
c.1823T>A (p.Leu608Ter)
3g.38872270A>CCA352171399SCN11Ac.3418T>G (p.Leu1140Val)
c.3472T>G (n.3472T>G)
c.3238T>G (p.Leu1080Val)
c.3462T>G (n.3462T>G)
c.3037T>G (p.Leu1013Val)
c.3304T>G (p.Leu1102Val)
c.2755T>G (p.Leu919Val)
c.1966T>G (p.Leu656Val)
c.3793T>G (p.Leu1265Val)
c.3220T>G (p.Leu1074Val)
c.3145T>G (p.Leu1049Val)
c.1822T>G (p.Leu608Val)
 COSMIC
3g.38872270A>GCA433142122SCN11Ac.3418T>C (p.Leu1140=)
c.3472T>C (n.3472T>C)
c.3238T>C (p.Leu1080=)
c.3462T>C (n.3462T>C)
c.3037T>C (p.Leu1013=)
c.3304T>C (p.Leu1102=)
c.2755T>C (p.Leu919=)
c.1966T>C (p.Leu656=)
c.3793T>C (p.Leu1265=)
c.3220T>C (p.Leu1074=)
c.3145T>C (p.Leu1049=)
c.1822T>C (p.Leu608=)
 gnomAD v4
3g.38872270A>TCA352171400SCN11Ac.3418T>A (p.Leu1140Ile)
c.3472T>A (n.3472T>A)
c.3238T>A (p.Leu1080Ile)
c.3462T>A (n.3462T>A)
c.3037T>A (p.Leu1013Ile)
c.3304T>A (p.Leu1102Ile)
c.2755T>A (p.Leu919Ile)
c.1966T>A (p.Leu656Ile)
c.3793T>A (p.Leu1265Ile)
c.3220T>A (p.Leu1074Ile)
c.3145T>A (p.Leu1049Ile)
c.1822T>A (p.Leu608Ile)
3g.38872271G>ACA433142123SCN11Ac.3417C>T (p.Asn1139=)
c.3471C>T (n.3471C>T)
c.3237C>T (p.Asn1079=)
c.3461C>T (n.3461C>T)
c.3036C>T (p.Asn1012=)
c.3303C>T (p.Asn1101=)
c.2754C>T (p.Asn918=)
c.1965C>T (p.Asn655=)
c.3792C>T (p.Asn1264=)
c.3219C>T (p.Asn1073=)
c.3144C>T (p.Asn1048=)
c.1821C>T (p.Asn607=)
3g.38872271G>CCA352171401SCN11Ac.3417C>G (p.Asn1139Lys)
c.3471C>G (n.3471C>G)
c.3237C>G (p.Asn1079Lys)
c.3461C>G (n.3461C>G)
c.3036C>G (p.Asn1012Lys)
c.3303C>G (p.Asn1101Lys)
c.2754C>G (p.Asn918Lys)
c.1965C>G (p.Asn655Lys)
c.3792C>G (p.Asn1264Lys)
c.3219C>G (p.Asn1073Lys)
c.3144C>G (p.Asn1048Lys)
c.1821C>G (p.Asn607Lys)
3g.38872271G>TCA352171402SCN11Ac.3417C>A (p.Asn1139Lys)
c.3471C>A (n.3471C>A)
c.3237C>A (p.Asn1079Lys)
c.3461C>A (n.3461C>A)
c.3036C>A (p.Asn1012Lys)
c.3303C>A (p.Asn1101Lys)
c.2754C>A (p.Asn918Lys)
c.1965C>A (p.Asn655Lys)
c.3792C>A (p.Asn1264Lys)
c.3219C>A (p.Asn1073Lys)
c.3144C>A (p.Asn1048Lys)
c.1821C>A (p.Asn607Lys)
3g.38872272T>ACA352171403SCN11Ac.3416A>T (p.Asn1139Ile)
c.3470A>T (n.3470A>T)
c.3236A>T (p.Asn1079Ile)
c.3460A>T (n.3460A>T)
c.3035A>T (p.Asn1012Ile)
c.3302A>T (p.Asn1101Ile)
c.2753A>T (p.Asn918Ile)
c.1964A>T (p.Asn655Ile)
c.3791A>T (p.Asn1264Ile)
c.3218A>T (p.Asn1073Ile)
c.3143A>T (p.Asn1048Ile)
c.1820A>T (p.Asn607Ile)
3g.38872272T>CCA352171404SCN11Ac.3416A>G (p.Asn1139Ser)
c.3470A>G (n.3470A>G)
c.3236A>G (p.Asn1079Ser)
c.3460A>G (n.3460A>G)
c.3035A>G (p.Asn1012Ser)
c.3302A>G (p.Asn1101Ser)
c.2753A>G (p.Asn918Ser)
c.1964A>G (p.Asn655Ser)
c.3791A>G (p.Asn1264Ser)
c.3218A>G (p.Asn1073Ser)
c.3143A>G (p.Asn1048Ser)
c.1820A>G (p.Asn607Ser)
 gnomAD v4
3g.38872272T>GCA352171405SCN11Ac.3416A>C (p.Asn1139Thr)
c.3470A>C (n.3470A>C)
c.3236A>C (p.Asn1079Thr)
c.3460A>C (n.3460A>C)
c.3035A>C (p.Asn1012Thr)
c.3302A>C (p.Asn1101Thr)
c.2753A>C (p.Asn918Thr)
c.1964A>C (p.Asn655Thr)
c.3791A>C (p.Asn1264Thr)
c.3218A>C (p.Asn1073Thr)
c.3143A>C (p.Asn1048Thr)
c.1820A>C (p.Asn607Thr)
3g.38872273T>ACA352171406SCN11Ac.3415A>T (p.Asn1139Tyr)
c.3469A>T (n.3469A>T)
c.3235A>T (p.Asn1079Tyr)
c.3459A>T (n.3459A>T)
c.3034A>T (p.Asn1012Tyr)
c.3301A>T (p.Asn1101Tyr)
c.2752A>T (p.Asn918Tyr)
c.1963A>T (p.Asn655Tyr)
c.3790A>T (p.Asn1264Tyr)
c.3217A>T (p.Asn1073Tyr)
c.3142A>T (p.Asn1048Tyr)
c.1819A>T (p.Asn607Tyr)
3g.38872273T>CCA352171407SCN11Ac.3415A>G (p.Asn1139Asp)
c.3469A>G (n.3469A>G)
c.3235A>G (p.Asn1079Asp)
c.3459A>G (n.3459A>G)
c.3034A>G (p.Asn1012Asp)
c.3301A>G (p.Asn1101Asp)
c.2752A>G (p.Asn918Asp)
c.1963A>G (p.Asn655Asp)
c.3790A>G (p.Asn1264Asp)
c.3217A>G (p.Asn1073Asp)
c.3142A>G (p.Asn1048Asp)
c.1819A>G (p.Asn607Asp)
3g.38872273T>GCA352171408SCN11Ac.3415A>C (p.Asn1139His)
c.3469A>C (n.3469A>C)
c.3235A>C (p.Asn1079His)
c.3459A>C (n.3459A>C)
c.3034A>C (p.Asn1012His)
c.3301A>C (p.Asn1101His)
c.2752A>C (p.Asn918His)
c.1963A>C (p.Asn655His)
c.3790A>C (p.Asn1264His)
c.3217A>C (p.Asn1073His)
c.3142A>C (p.Asn1048His)
c.1819A>C (p.Asn607His)
3g.38872274A>CCA352171409SCN11Ac.3414T>G (p.Ile1138Met)
c.3468T>G (n.3468T>G)
c.3234T>G (p.Ile1078Met)
c.3458T>G (n.3458T>G)
c.3033T>G (p.Ile1011Met)
c.3300T>G (p.Ile1100Met)
c.2751T>G (p.Ile917Met)
c.1962T>G (p.Ile654Met)
c.3789T>G (p.Ile1263Met)
c.3216T>G (p.Ile1072Met)
c.3141T>G (p.Ile1047Met)
c.1818T>G (p.Ile606Met)
3g.38872274A>GCA433142130SCN11Ac.3414T>C (p.Ile1138=)
c.3468T>C (n.3468T>C)
c.3234T>C (p.Ile1078=)
c.3458T>C (n.3458T>C)
c.3033T>C (p.Ile1011=)
c.3300T>C (p.Ile1100=)
c.2751T>C (p.Ile917=)
c.1962T>C (p.Ile654=)
c.3789T>C (p.Ile1263=)
c.3216T>C (p.Ile1072=)
c.3141T>C (p.Ile1047=)
c.1818T>C (p.Ile606=)
3g.38872274A>TCA433142129SCN11Ac.3414T>A (p.Ile1138=)
c.3468T>A (n.3468T>A)
c.3234T>A (p.Ile1078=)
c.3458T>A (n.3458T>A)
c.3033T>A (p.Ile1011=)
c.3300T>A (p.Ile1100=)
c.2751T>A (p.Ile917=)
c.1962T>A (p.Ile654=)
c.3789T>A (p.Ile1263=)
c.3216T>A (p.Ile1072=)
c.3141T>A (p.Ile1047=)
c.1818T>A (p.Ile606=)
 dbSNP gnomAD v3 gnomAD v4
3g.38872275A>CCA352171410SCN11Ac.3413T>G (p.Ile1138Ser)
c.3467T>G (n.3467T>G)
c.3233T>G (p.Ile1078Ser)
c.3457T>G (n.3457T>G)
c.3032T>G (p.Ile1011Ser)
c.3299T>G (p.Ile1100Ser)
c.2750T>G (p.Ile917Ser)
c.1961T>G (p.Ile654Ser)
c.3788T>G (p.Ile1263Ser)
c.3215T>G (p.Ile1072Ser)
c.3140T>G (p.Ile1047Ser)
c.1817T>G (p.Ile606Ser)
3g.38872275A>GCA352171411SCN11Ac.3413T>C (p.Ile1138Thr)
c.3467T>C (n.3467T>C)
c.3233T>C (p.Ile1078Thr)
c.3457T>C (n.3457T>C)
c.3032T>C (p.Ile1011Thr)
c.3299T>C (p.Ile1100Thr)
c.2750T>C (p.Ile917Thr)
c.1961T>C (p.Ile654Thr)
c.3788T>C (p.Ile1263Thr)
c.3215T>C (p.Ile1072Thr)
c.3140T>C (p.Ile1047Thr)
c.1817T>C (p.Ile606Thr)
 gnomAD v4
3g.38872275A>TCA352171412SCN11Ac.3413T>A (p.Ile1138Asn)
c.3467T>A (n.3467T>A)
c.3233T>A (p.Ile1078Asn)
c.3457T>A (n.3457T>A)
c.3032T>A (p.Ile1011Asn)
c.3299T>A (p.Ile1100Asn)
c.2750T>A (p.Ile917Asn)
c.1961T>A (p.Ile654Asn)
c.3788T>A (p.Ile1263Asn)
c.3215T>A (p.Ile1072Asn)
c.3140T>A (p.Ile1047Asn)
c.1817T>A (p.Ile606Asn)
3g.38872276T>ACA352171413SCN11Ac.3412A>T (p.Ile1138Phe)
c.3466A>T (n.3466A>T)
c.3232A>T (p.Ile1078Phe)
c.3456A>T (n.3456A>T)
c.3031A>T (p.Ile1011Phe)
c.3298A>T (p.Ile1100Phe)
c.2749A>T (p.Ile917Phe)
c.1960A>T (p.Ile654Phe)
c.3787A>T (p.Ile1263Phe)
c.3214A>T (p.Ile1072Phe)
c.3139A>T (p.Ile1047Phe)
c.1816A>T (p.Ile606Phe)
3g.38872276T>CCA352171414SCN11Ac.3412A>G (p.Ile1138Val)
c.3466A>G (n.3466A>G)
c.3232A>G (p.Ile1078Val)
c.3456A>G (n.3456A>G)
c.3031A>G (p.Ile1011Val)
c.3298A>G (p.Ile1100Val)
c.2749A>G (p.Ile917Val)
c.1960A>G (p.Ile654Val)
c.3787A>G (p.Ile1263Val)
c.3214A>G (p.Ile1072Val)
c.3139A>G (p.Ile1047Val)
c.1816A>G (p.Ile606Val)
3g.38872276T>GCA2321792SCN11Ac.3412A>C (p.Ile1138Leu)
c.3466A>C (n.3466A>C)
c.3232A>C (p.Ile1078Leu)
c.3456A>C (n.3456A>C)
c.3031A>C (p.Ile1011Leu)
c.3298A>C (p.Ile1100Leu)
c.2749A>C (p.Ile917Leu)
c.1960A>C (p.Ile654Leu)
c.3787A>C (p.Ile1263Leu)
c.3214A>C (p.Ile1072Leu)
c.3139A>C (p.Ile1047Leu)
c.1816A>C (p.Ile606Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38872276T=CA1358708012SCN11Ac.3412A= (p.Ile1138=)
c.3466A= (n.3466A=)
c.3232A= (p.Ile1078=)
c.3456A= (n.3456A=)
c.3031A= (p.Ile1011=)
c.3298A= (p.Ile1100=)
c.2749A= (p.Ile917=)
c.1960A= (p.Ile654=)
c.3787A= (p.Ile1263=)
c.3214A= (p.Ile1072=)
c.3139A= (p.Ile1047=)
c.1816A= (p.Ile606=)
3g.38872277G>ACA2321793SCN11Ac.3411C>T (p.Leu1137=)
c.3465C>T (n.3465C>T)
c.3231C>T (p.Leu1077=)
c.3455C>T (n.3455C>T)
c.3030C>T (p.Leu1010=)
c.3297C>T (p.Leu1099=)
c.2748C>T (p.Leu916=)
c.1959C>T (p.Leu653=)
c.3786C>T (p.Leu1262=)
c.3213C>T (p.Leu1071=)
c.3138C>T (p.Leu1046=)
c.1815C>T (p.Leu605=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38872277G>CCA433142134SCN11Ac.3411C>G (p.Leu1137=)
c.3465C>G (n.3465C>G)
c.3231C>G (p.Leu1077=)
c.3455C>G (n.3455C>G)
c.3030C>G (p.Leu1010=)
c.3297C>G (p.Leu1099=)
c.2748C>G (p.Leu916=)
c.1959C>G (p.Leu653=)
c.3786C>G (p.Leu1262=)
c.3213C>G (p.Leu1071=)
c.3138C>G (p.Leu1046=)
c.1815C>G (p.Leu605=)
3g.38872277G=CA1358708016SCN11Ac.3411C= (p.Leu1137=)
c.3465C= (n.3465C=)
c.3231C= (p.Leu1077=)
c.3455C= (n.3455C=)
c.3030C= (p.Leu1010=)
c.3297C= (p.Leu1099=)
c.2748C= (p.Leu916=)
c.1959C= (p.Leu653=)
c.3786C= (p.Leu1262=)
c.3213C= (p.Leu1071=)
c.3138C= (p.Leu1046=)
c.1815C= (p.Leu605=)
3g.38872277G>TCA433142135SCN11Ac.3411C>A (p.Leu1137=)
c.3465C>A (n.3465C>A)
c.3231C>A (p.Leu1077=)
c.3455C>A (n.3455C>A)
c.3030C>A (p.Leu1010=)
c.3297C>A (p.Leu1099=)
c.2748C>A (p.Leu916=)
c.1959C>A (p.Leu653=)
c.3786C>A (p.Leu1262=)
c.3213C>A (p.Leu1071=)
c.3138C>A (p.Leu1046=)
c.1815C>A (p.Leu605=)
 gnomAD v4
3g.38872278A>CCA352171415SCN11Ac.3410T>G (p.Leu1137Arg)
c.3464T>G (n.3464T>G)
c.3230T>G (p.Leu1077Arg)
c.3454T>G (n.3454T>G)
c.3029T>G (p.Leu1010Arg)
c.3296T>G (p.Leu1099Arg)
c.2747T>G (p.Leu916Arg)
c.1958T>G (p.Leu653Arg)
c.3785T>G (p.Leu1262Arg)
c.3212T>G (p.Leu1071Arg)
c.3137T>G (p.Leu1046Arg)
c.1814T>G (p.Leu605Arg)
3g.38872278A>GCA352171416SCN11Ac.3410T>C (p.Leu1137Pro)
c.3464T>C (n.3464T>C)
c.3230T>C (p.Leu1077Pro)
c.3454T>C (n.3454T>C)
c.3029T>C (p.Leu1010Pro)
c.3296T>C (p.Leu1099Pro)
c.2747T>C (p.Leu916Pro)
c.1958T>C (p.Leu653Pro)
c.3785T>C (p.Leu1262Pro)
c.3212T>C (p.Leu1071Pro)
c.3137T>C (p.Leu1046Pro)
c.1814T>C (p.Leu605Pro)
3g.38872278A>TCA352171417SCN11Ac.3410T>A (p.Leu1137His)
c.3464T>A (n.3464T>A)
c.3230T>A (p.Leu1077His)
c.3454T>A (n.3454T>A)
c.3029T>A (p.Leu1010His)
c.3296T>A (p.Leu1099His)
c.2747T>A (p.Leu916His)
c.1958T>A (p.Leu653His)
c.3785T>A (p.Leu1262His)
c.3212T>A (p.Leu1071His)
c.3137T>A (p.Leu1046His)
c.1814T>A (p.Leu605His)
3g.38872279G>ACA352171418SCN11Ac.3409C>T (p.Leu1137Phe)
c.3463C>T (n.3463C>T)
c.3229C>T (p.Leu1077Phe)
c.3453C>T (n.3453C>T)
c.3028C>T (p.Leu1010Phe)
c.3295C>T (p.Leu1099Phe)
c.2746C>T (p.Leu916Phe)
c.1957C>T (p.Leu653Phe)
c.3784C>T (p.Leu1262Phe)
c.3211C>T (p.Leu1071Phe)
c.3136C>T (p.Leu1046Phe)
c.1813C>T (p.Leu605Phe)
3g.38872279G>CCA352171419SCN11Ac.3409C>G (p.Leu1137Val)
c.3463C>G (n.3463C>G)
c.3229C>G (p.Leu1077Val)
c.3453C>G (n.3453C>G)
c.3028C>G (p.Leu1010Val)
c.3295C>G (p.Leu1099Val)
c.2746C>G (p.Leu916Val)
c.1957C>G (p.Leu653Val)
c.3784C>G (p.Leu1262Val)
c.3211C>G (p.Leu1071Val)
c.3136C>G (p.Leu1046Val)
c.1813C>G (p.Leu605Val)
3g.38872279G>TCA352171420SCN11Ac.3409C>A (p.Leu1137Ile)
c.3463C>A (n.3463C>A)
c.3229C>A (p.Leu1077Ile)
c.3453C>A (n.3453C>A)
c.3028C>A (p.Leu1010Ile)
c.3295C>A (p.Leu1099Ile)
c.2746C>A (p.Leu916Ile)
c.1957C>A (p.Leu653Ile)
c.3784C>A (p.Leu1262Ile)
c.3211C>A (p.Leu1071Ile)
c.3136C>A (p.Leu1046Ile)
c.1813C>A (p.Leu605Ile)
 gnomAD v4
3g.38872280G>ACA433142136SCN11Ac.3408C>T (p.Thr1136=)
c.3462C>T (n.3462C>T)
c.3228C>T (p.Thr1076=)
c.3452C>T (n.3452C>T)
c.3027C>T (p.Thr1009=)
c.3294C>T (p.Thr1098=)
c.2745C>T (p.Thr915=)
c.1956C>T (p.Thr652=)
c.3783C>T (p.Thr1261=)
c.3210C>T (p.Thr1070=)
c.3135C>T (p.Thr1045=)
c.1812C>T (p.Thr604=)
3g.38872280G>CCA433142137SCN11Ac.3408C>G (p.Thr1136=)
c.3462C>G (n.3462C>G)
c.3228C>G (p.Thr1076=)
c.3452C>G (n.3452C>G)
c.3027C>G (p.Thr1009=)
c.3294C>G (p.Thr1098=)
c.2745C>G (p.Thr915=)
c.1956C>G (p.Thr652=)
c.3783C>G (p.Thr1261=)
c.3210C>G (p.Thr1070=)
c.3135C>G (p.Thr1045=)
c.1812C>G (p.Thr604=)
3g.38872280G>TCA433142138SCN11Ac.3408C>A (p.Thr1136=)
c.3462C>A (n.3462C>A)
c.3228C>A (p.Thr1076=)
c.3452C>A (n.3452C>A)
c.3027C>A (p.Thr1009=)
c.3294C>A (p.Thr1098=)
c.2745C>A (p.Thr915=)
c.1956C>A (p.Thr652=)
c.3783C>A (p.Thr1261=)
c.3210C>A (p.Thr1070=)
c.3135C>A (p.Thr1045=)
c.1812C>A (p.Thr604=)
3g.38872281G>ACA352171421SCN11Ac.3407C>T (p.Thr1136Ile)
c.3461C>T (n.3461C>T)
c.3227C>T (p.Thr1076Ile)
c.3451C>T (n.3451C>T)
c.3026C>T (p.Thr1009Ile)
c.3293C>T (p.Thr1098Ile)
c.2744C>T (p.Thr915Ile)
c.1955C>T (p.Thr652Ile)
c.3782C>T (p.Thr1261Ile)
c.3209C>T (p.Thr1070Ile)
c.3134C>T (p.Thr1045Ile)
c.1811C>T (p.Thr604Ile)
 dbSNP gnomAD v4 COSMIC
3g.38872281G>CCA352171422SCN11Ac.3407C>G (p.Thr1136Ser)
c.3461C>G (n.3461C>G)
c.3227C>G (p.Thr1076Ser)
c.3451C>G (n.3451C>G)
c.3026C>G (p.Thr1009Ser)
c.3293C>G (p.Thr1098Ser)
c.2744C>G (p.Thr915Ser)
c.1955C>G (p.Thr652Ser)
c.3782C>G (p.Thr1261Ser)
c.3209C>G (p.Thr1070Ser)
c.3134C>G (p.Thr1045Ser)
c.1811C>G (p.Thr604Ser)
3g.38872281G=CA1358708021SCN11Ac.3407C= (p.Thr1136=)
c.3461C= (n.3461C=)
c.3227C= (p.Thr1076=)
c.3451C= (n.3451C=)
c.3026C= (p.Thr1009=)
c.3293C= (p.Thr1098=)
c.2744C= (p.Thr915=)
c.1955C= (p.Thr652=)
c.3782C= (p.Thr1261=)
c.3209C= (p.Thr1070=)
c.3134C= (p.Thr1045=)
c.1811C= (p.Thr604=)
3g.38872281G>TCA2321794SCN11Ac.3407C>A (p.Thr1136Asn)
c.3461C>A (n.3461C>A)
c.3227C>A (p.Thr1076Asn)
c.3451C>A (n.3451C>A)
c.3026C>A (p.Thr1009Asn)
c.3293C>A (p.Thr1098Asn)
c.2744C>A (p.Thr915Asn)
c.1955C>A (p.Thr652Asn)
c.3782C>A (p.Thr1261Asn)
c.3209C>A (p.Thr1070Asn)
c.3134C>A (p.Thr1045Asn)
c.1811C>A (p.Thr604Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38872282T>ACA352171423SCN11Ac.3406A>T (p.Thr1136Ser)
c.3460A>T (n.3460A>T)
c.3226A>T (p.Thr1076Ser)
c.3450A>T (n.3450A>T)
c.3025A>T (p.Thr1009Ser)
c.3292A>T (p.Thr1098Ser)
c.2743A>T (p.Thr915Ser)
c.1954A>T (p.Thr652Ser)
c.3781A>T (p.Thr1261Ser)
c.3208A>T (p.Thr1070Ser)
c.3133A>T (p.Thr1045Ser)
c.1810A>T (p.Thr604Ser)
3g.38872282T>CCA352171424SCN11Ac.3406A>G (p.Thr1136Ala)
c.3460A>G (n.3460A>G)
c.3226A>G (p.Thr1076Ala)
c.3450A>G (n.3450A>G)
c.3025A>G (p.Thr1009Ala)
c.3292A>G (p.Thr1098Ala)
c.2743A>G (p.Thr915Ala)
c.1954A>G (p.Thr652Ala)
c.3781A>G (p.Thr1261Ala)
c.3208A>G (p.Thr1070Ala)
c.3133A>G (p.Thr1045Ala)
c.1810A>G (p.Thr604Ala)
 gnomAD v4
3g.38872282T>GCA352171425SCN11Ac.3406A>C (p.Thr1136Pro)
c.3460A>C (n.3460A>C)
c.3226A>C (p.Thr1076Pro)
c.3450A>C (n.3450A>C)
c.3025A>C (p.Thr1009Pro)
c.3292A>C (p.Thr1098Pro)
c.2743A>C (p.Thr915Pro)
c.1954A>C (p.Thr652Pro)
c.3781A>C (p.Thr1261Pro)
c.3208A>C (p.Thr1070Pro)
c.3133A>C (p.Thr1045Pro)
c.1810A>C (p.Thr604Pro)
3g.38872283G>ACA433142143SCN11Ac.3405C>T (p.Thr1135=)
c.3459C>T (n.3459C>T)
c.3225C>T (p.Thr1075=)
c.3449C>T (n.3449C>T)
c.3024C>T (p.Thr1008=)
c.3291C>T (p.Thr1097=)
c.2742C>T (p.Thr914=)
c.1953C>T (p.Thr651=)
c.3780C>T (p.Thr1260=)
c.3207C>T (p.Thr1069=)
c.3132C>T (p.Thr1044=)
c.1809C>T (p.Thr603=)
 gnomAD v4 COSMIC
3g.38872283G>CCA433142141SCN11Ac.3405C>G (p.Thr1135=)
c.3459C>G (n.3459C>G)
c.3225C>G (p.Thr1075=)
c.3449C>G (n.3449C>G)
c.3024C>G (p.Thr1008=)
c.3291C>G (p.Thr1097=)
c.2742C>G (p.Thr914=)
c.1953C>G (p.Thr651=)
c.3780C>G (p.Thr1260=)
c.3207C>G (p.Thr1069=)
c.3132C>G (p.Thr1044=)
c.1809C>G (p.Thr603=)
3g.38872283G>TCA433142142SCN11Ac.3405C>A (p.Thr1135=)
c.3459C>A (n.3459C>A)
c.3225C>A (p.Thr1075=)
c.3449C>A (n.3449C>A)
c.3024C>A (p.Thr1008=)
c.3291C>A (p.Thr1097=)
c.2742C>A (p.Thr914=)
c.1953C>A (p.Thr651=)
c.3780C>A (p.Thr1260=)
c.3207C>A (p.Thr1069=)
c.3132C>A (p.Thr1044=)
c.1809C>A (p.Thr603=)
 gnomAD v4
3g.38872284G>ACA352171426SCN11Ac.3404C>T (p.Thr1135Ile)
c.3458C>T (n.3458C>T)
c.3224C>T (p.Thr1075Ile)
c.3448C>T (n.3448C>T)
c.3023C>T (p.Thr1008Ile)
c.3290C>T (p.Thr1097Ile)
c.2741C>T (p.Thr914Ile)
c.1952C>T (p.Thr651Ile)
c.3779C>T (p.Thr1260Ile)
c.3206C>T (p.Thr1069Ile)
c.3131C>T (p.Thr1044Ile)
c.1808C>T (p.Thr603Ile)
3g.38872284G>CCA352171427SCN11Ac.3404C>G (p.Thr1135Ser)
c.3458C>G (n.3458C>G)
c.3224C>G (p.Thr1075Ser)
c.3448C>G (n.3448C>G)
c.3023C>G (p.Thr1008Ser)
c.3290C>G (p.Thr1097Ser)
c.2741C>G (p.Thr914Ser)
c.1952C>G (p.Thr651Ser)
c.3779C>G (p.Thr1260Ser)
c.3206C>G (p.Thr1069Ser)
c.3131C>G (p.Thr1044Ser)
c.1808C>G (p.Thr603Ser)
 gnomAD v4
3g.38872284G>TCA352171428SCN11Ac.3404C>A (p.Thr1135Asn)
c.3458C>A (n.3458C>A)
c.3224C>A (p.Thr1075Asn)
c.3448C>A (n.3448C>A)
c.3023C>A (p.Thr1008Asn)
c.3290C>A (p.Thr1097Asn)
c.2741C>A (p.Thr914Asn)
c.1952C>A (p.Thr651Asn)
c.3779C>A (p.Thr1260Asn)
c.3206C>A (p.Thr1069Asn)
c.3131C>A (p.Thr1044Asn)
c.1808C>A (p.Thr603Asn)
 gnomAD v4
3g.38872285T>ACA352171429SCN11Ac.3403A>T (p.Thr1135Ser)
c.3457A>T (n.3457A>T)
c.3223A>T (p.Thr1075Ser)
c.3447A>T (n.3447A>T)
c.3022A>T (p.Thr1008Ser)
c.3289A>T (p.Thr1097Ser)
c.2740A>T (p.Thr914Ser)
c.1951A>T (p.Thr651Ser)
c.3778A>T (p.Thr1260Ser)
c.3205A>T (p.Thr1069Ser)
c.3130A>T (p.Thr1044Ser)
c.1807A>T (p.Thr603Ser)
3g.38872285T>CCA352171430SCN11Ac.3403A>G (p.Thr1135Ala)
c.3457A>G (n.3457A>G)
c.3223A>G (p.Thr1075Ala)
c.3447A>G (n.3447A>G)
c.3022A>G (p.Thr1008Ala)
c.3289A>G (p.Thr1097Ala)
c.2740A>G (p.Thr914Ala)
c.1951A>G (p.Thr651Ala)
c.3778A>G (p.Thr1260Ala)
c.3205A>G (p.Thr1069Ala)
c.3130A>G (p.Thr1044Ala)
c.1807A>G (p.Thr603Ala)
 gnomAD v4
3g.38872285T>GCA352171431SCN11Ac.3403A>C (p.Thr1135Pro)
c.3457A>C (n.3457A>C)
c.3223A>C (p.Thr1075Pro)
c.3447A>C (n.3447A>C)
c.3022A>C (p.Thr1008Pro)
c.3289A>C (p.Thr1097Pro)
c.2740A>C (p.Thr914Pro)
c.1951A>C (p.Thr651Pro)
c.3778A>C (p.Thr1260Pro)
c.3205A>C (p.Thr1069Pro)
c.3130A>C (p.Thr1044Pro)
c.1807A>C (p.Thr603Pro)
3g.38872286C>ACA433142145SCN11Ac.3402G>T (p.Val1134=)
c.3456G>T (n.3456G>T)
c.3222G>T (p.Val1074=)
c.3446G>T (n.3446G>T)
c.3021G>T (p.Val1007=)
c.3288G>T (p.Val1096=)
c.2739G>T (p.Val913=)
c.1950G>T (p.Val650=)
c.3777G>T (p.Val1259=)
c.3204G>T (p.Val1068=)
c.3129G>T (p.Val1043=)
c.1806G>T (p.Val602=)
 gnomAD v4
3g.38872286C=CA1358708024SCN11Ac.3402G= (p.Val1134=)
c.3456G= (n.3456G=)
c.3222G= (p.Val1074=)
c.3446G= (n.3446G=)
c.3021G= (p.Val1007=)
c.3288G= (p.Val1096=)
c.2739G= (p.Val913=)
c.1950G= (p.Val650=)
c.3777G= (p.Val1259=)
c.3204G= (p.Val1068=)
c.3129G= (p.Val1043=)
c.1806G= (p.Val602=)
3g.38872286C>GCA433142146SCN11Ac.3402G>C (p.Val1134=)
c.3456G>C (n.3456G>C)
c.3222G>C (p.Val1074=)
c.3446G>C (n.3446G>C)
c.3021G>C (p.Val1007=)
c.3288G>C (p.Val1096=)
c.2739G>C (p.Val913=)
c.1950G>C (p.Val650=)
c.3777G>C (p.Val1259=)
c.3204G>C (p.Val1068=)
c.3129G>C (p.Val1043=)
c.1806G>C (p.Val602=)
3g.38872286C>TCA2321795SCN11Ac.3402G>A (p.Val1134=)
c.3456G>A (n.3456G>A)
c.3222G>A (p.Val1074=)
c.3446G>A (n.3446G>A)
c.3021G>A (p.Val1007=)
c.3288G>A (p.Val1096=)
c.2739G>A (p.Val913=)
c.1950G>A (p.Val650=)
c.3777G>A (p.Val1259=)
c.3204G>A (p.Val1068=)
c.3129G>A (p.Val1043=)
c.1806G>A (p.Val602=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.38872287A>CCA352171432SCN11Ac.3401T>G (p.Val1134Gly)
c.3455T>G (n.3455T>G)
c.3221T>G (p.Val1074Gly)
c.3445T>G (n.3445T>G)
c.3020T>G (p.Val1007Gly)
c.3287T>G (p.Val1096Gly)
c.2738T>G (p.Val913Gly)
c.1949T>G (p.Val650Gly)
c.3776T>G (p.Val1259Gly)
c.3203T>G (p.Val1068Gly)
c.3128T>G (p.Val1043Gly)
c.1805T>G (p.Val602Gly)
3g.38872287A>GCA352171433SCN11Ac.3401T>C (p.Val1134Ala)
c.3455T>C (n.3455T>C)
c.3221T>C (p.Val1074Ala)
c.3445T>C (n.3445T>C)
c.3020T>C (p.Val1007Ala)
c.3287T>C (p.Val1096Ala)
c.2738T>C (p.Val913Ala)
c.1949T>C (p.Val650Ala)
c.3776T>C (p.Val1259Ala)
c.3203T>C (p.Val1068Ala)
c.3128T>C (p.Val1043Ala)
c.1805T>C (p.Val602Ala)
3g.38872287A>TCA352171434SCN11Ac.3401T>A (p.Val1134Glu)
c.3455T>A (n.3455T>A)
c.3221T>A (p.Val1074Glu)
c.3445T>A (n.3445T>A)
c.3020T>A (p.Val1007Glu)
c.3287T>A (p.Val1096Glu)
c.2738T>A (p.Val913Glu)
c.1949T>A (p.Val650Glu)
c.3776T>A (p.Val1259Glu)
c.3203T>A (p.Val1068Glu)
c.3128T>A (p.Val1043Glu)
c.1805T>A (p.Val602Glu)
3g.38872288C>ACA352171435SCN11Ac.3400G>T (p.Val1134Leu)
c.3454G>T (n.3454G>T)
c.3220G>T (p.Val1074Leu)
c.3444G>T (n.3444G>T)
c.3019G>T (p.Val1007Leu)
c.3286G>T (p.Val1096Leu)
c.2737G>T (p.Val913Leu)
c.1948G>T (p.Val650Leu)
c.3775G>T (p.Val1259Leu)
c.3202G>T (p.Val1068Leu)
c.3127G>T (p.Val1043Leu)
c.1804G>T (p.Val602Leu)
 dbSNP gnomAD v3 gnomAD v4
3g.38872288C=CA1358708028SCN11Ac.3400G= (p.Val1134=)
c.3454G= (n.3454G=)
c.3220G= (p.Val1074=)
c.3444G= (n.3444G=)
c.3019G= (p.Val1007=)
c.3286G= (p.Val1096=)
c.2737G= (p.Val913=)
c.1948G= (p.Val650=)
c.3775G= (p.Val1259=)
c.3202G= (p.Val1068=)
c.3127G= (p.Val1043=)
c.1804G= (p.Val602=)
3g.38872288C>GCA352171437SCN11Ac.3400G>C (p.Val1134Leu)
c.3454G>C (n.3454G>C)
c.3220G>C (p.Val1074Leu)
c.3444G>C (n.3444G>C)
c.3019G>C (p.Val1007Leu)
c.3286G>C (p.Val1096Leu)
c.2737G>C (p.Val913Leu)
c.1948G>C (p.Val650Leu)
c.3775G>C (p.Val1259Leu)
c.3202G>C (p.Val1068Leu)
c.3127G>C (p.Val1043Leu)
c.1804G>C (p.Val602Leu)
3g.38872288C>TCA352171436SCN11Ac.3400G>A (p.Val1134Met)
c.3454G>A (n.3454G>A)
c.3220G>A (p.Val1074Met)
c.3444G>A (n.3444G>A)
c.3019G>A (p.Val1007Met)
c.3286G>A (p.Val1096Met)
c.2737G>A (p.Val913Met)
c.1948G>A (p.Val650Met)
c.3775G>A (p.Val1259Met)
c.3202G>A (p.Val1068Met)
c.3127G>A (p.Val1043Met)
c.1804G>A (p.Val602Met)
3g.38872289A=CA1358708030SCN11Ac.3399T= (p.Ser1133=)
c.3453T= (n.3453T=)
c.3219T= (p.Ser1073=)
c.3443T= (n.3443T=)
c.3018T= (p.Ser1006=)
c.3285T= (p.Ser1095=)
c.2736T= (p.Ser912=)
c.1947T= (p.Ser649=)
c.3774T= (p.Ser1258=)
c.3201T= (p.Ser1067=)
c.3126T= (p.Ser1042=)
c.1803T= (p.Ser601=)
3g.38872289A>CCA433142151SCN11Ac.3399T>G (p.Ser1133=)
c.3453T>G (n.3453T>G)
c.3219T>G (p.Ser1073=)
c.3443T>G (n.3443T>G)
c.3018T>G (p.Ser1006=)
c.3285T>G (p.Ser1095=)
c.2736T>G (p.Ser912=)
c.1947T>G (p.Ser649=)
c.3774T>G (p.Ser1258=)
c.3201T>G (p.Ser1067=)
c.3126T>G (p.Ser1042=)
c.1803T>G (p.Ser601=)
3g.38872289A>GCA2321796SCN11Ac.3399T>C (p.Ser1133=)
c.3453T>C (n.3453T>C)
c.3219T>C (p.Ser1073=)
c.3443T>C (n.3443T>C)
c.3018T>C (p.Ser1006=)
c.3285T>C (p.Ser1095=)
c.2736T>C (p.Ser912=)
c.1947T>C (p.Ser649=)
c.3774T>C (p.Ser1258=)
c.3201T>C (p.Ser1067=)
c.3126T>C (p.Ser1042=)
c.1803T>C (p.Ser601=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38872289A>TCA433142150SCN11Ac.3399T>A (p.Ser1133=)
c.3453T>A (n.3453T>A)
c.3219T>A (p.Ser1073=)
c.3443T>A (n.3443T>A)
c.3018T>A (p.Ser1006=)
c.3285T>A (p.Ser1095=)
c.2736T>A (p.Ser912=)
c.1947T>A (p.Ser649=)
c.3774T>A (p.Ser1258=)
c.3201T>A (p.Ser1067=)
c.3126T>A (p.Ser1042=)
c.1803T>A (p.Ser601=)
3g.38872290G>ACA352171438SCN11Ac.3398C>T (p.Ser1133Phe)
c.3452C>T (n.3452C>T)
c.3218C>T (p.Ser1073Phe)
c.3442C>T (n.3442C>T)
c.3017C>T (p.Ser1006Phe)
c.3284C>T (p.Ser1095Phe)
c.2735C>T (p.Ser912Phe)
c.1946C>T (p.Ser649Phe)
c.3773C>T (p.Ser1258Phe)
c.3200C>T (p.Ser1067Phe)
c.3125C>T (p.Ser1042Phe)
c.1802C>T (p.Ser601Phe)
3g.38872290G>CCA352171439SCN11Ac.3398C>G (p.Ser1133Cys)
c.3452C>G (n.3452C>G)
c.3218C>G (p.Ser1073Cys)
c.3442C>G (n.3442C>G)
c.3017C>G (p.Ser1006Cys)
c.3284C>G (p.Ser1095Cys)
c.2735C>G (p.Ser912Cys)
c.1946C>G (p.Ser649Cys)
c.3773C>G (p.Ser1258Cys)
c.3200C>G (p.Ser1067Cys)
c.3125C>G (p.Ser1042Cys)
c.1802C>G (p.Ser601Cys)
 gnomAD v4
3g.38872290G>TCA352171440SCN11Ac.3398C>A (p.Ser1133Tyr)
c.3452C>A (n.3452C>A)
c.3218C>A (p.Ser1073Tyr)
c.3442C>A (n.3442C>A)
c.3017C>A (p.Ser1006Tyr)
c.3284C>A (p.Ser1095Tyr)
c.2735C>A (p.Ser912Tyr)
c.1946C>A (p.Ser649Tyr)
c.3773C>A (p.Ser1258Tyr)
c.3200C>A (p.Ser1067Tyr)
c.3125C>A (p.Ser1042Tyr)
c.1802C>A (p.Ser601Tyr)
3g.38872291A>CCA352171441SCN11Ac.3397T>G (p.Ser1133Ala)
c.3451T>G (n.3451T>G)
c.3217T>G (p.Ser1073Ala)
c.3441T>G (n.3441T>G)
c.3016T>G (p.Ser1006Ala)
c.3283T>G (p.Ser1095Ala)
c.2734T>G (p.Ser912Ala)
c.1945T>G (p.Ser649Ala)
c.3772T>G (p.Ser1258Ala)
c.3199T>G (p.Ser1067Ala)
c.3124T>G (p.Ser1042Ala)
c.1801T>G (p.Ser601Ala)
3g.38872291A>GCA352171442SCN11Ac.3397T>C (p.Ser1133Pro)
c.3451T>C (n.3451T>C)
c.3217T>C (p.Ser1073Pro)
c.3441T>C (n.3441T>C)
c.3016T>C (p.Ser1006Pro)
c.3283T>C (p.Ser1095Pro)
c.2734T>C (p.Ser912Pro)
c.1945T>C (p.Ser649Pro)
c.3772T>C (p.Ser1258Pro)
c.3199T>C (p.Ser1067Pro)
c.3124T>C (p.Ser1042Pro)
c.1801T>C (p.Ser601Pro)
3g.38872291A>TCA352171444SCN11Ac.3397T>A (p.Ser1133Thr)
c.3451T>A (n.3451T>A)
c.3217T>A (p.Ser1073Thr)
c.3441T>A (n.3441T>A)
c.3016T>A (p.Ser1006Thr)
c.3283T>A (p.Ser1095Thr)
c.2734T>A (p.Ser912Thr)
c.1945T>A (p.Ser649Thr)
c.3772T>A (p.Ser1258Thr)
c.3199T>A (p.Ser1067Thr)
c.3124T>A (p.Ser1042Thr)
c.1801T>A (p.Ser601Thr)
3g.38872292G>ACA72980542SCN11Ac.3396C>T (p.Val1132=)
c.3450C>T (n.3450C>T)
c.3216C>T (p.Val1072=)
c.3440C>T (n.3440C>T)
c.3015C>T (p.Val1005=)
c.3282C>T (p.Val1094=)
c.2733C>T (p.Val911=)
c.1944C>T (p.Val648=)
c.3771C>T (p.Val1257=)
c.3198C>T (p.Val1066=)
c.3123C>T (p.Val1041=)
c.1800C>T (p.Val600=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38872292G>CCA433142155SCN11Ac.3396C>G (p.Val1132=)
c.3450C>G (n.3450C>G)
c.3216C>G (p.Val1072=)
c.3440C>G (n.3440C>G)
c.3015C>G (p.Val1005=)
c.3282C>G (p.Val1094=)
c.2733C>G (p.Val911=)
c.1944C>G (p.Val648=)
c.3771C>G (p.Val1257=)
c.3198C>G (p.Val1066=)
c.3123C>G (p.Val1041=)
c.1800C>G (p.Val600=)
 gnomAD v4
3g.38872292G=CA1358708034SCN11Ac.3396C= (p.Val1132=)
c.3450C= (n.3450C=)
c.3216C= (p.Val1072=)
c.3440C= (n.3440C=)
c.3015C= (p.Val1005=)
c.3282C= (p.Val1094=)
c.2733C= (p.Val911=)
c.1944C= (p.Val648=)
c.3771C= (p.Val1257=)
c.3198C= (p.Val1066=)
c.3123C= (p.Val1041=)
c.1800C= (p.Val600=)
3g.38872292G>TCA433142156SCN11Ac.3396C>A (p.Val1132=)
c.3450C>A (n.3450C>A)
c.3216C>A (p.Val1072=)
c.3440C>A (n.3440C>A)
c.3015C>A (p.Val1005=)
c.3282C>A (p.Val1094=)
c.2733C>A (p.Val911=)
c.1944C>A (p.Val648=)
c.3771C>A (p.Val1257=)
c.3198C>A (p.Val1066=)
c.3123C>A (p.Val1041=)
c.1800C>A (p.Val600=)
 gnomAD v4
3g.38872293A=CA1358708038SCN11Ac.3395T= (p.Val1132=)
c.3449T= (n.3449T=)
c.3215T= (p.Val1072=)
c.3439T= (n.3439T=)
c.3014T= (p.Val1005=)
c.3281T= (p.Val1094=)
c.2732T= (p.Val911=)
c.1943T= (p.Val648=)
c.3770T= (p.Val1257=)
c.3197T= (p.Val1066=)
c.3122T= (p.Val1041=)
c.1799T= (p.Val600=)
3g.38872293A>CCA352171446SCN11Ac.3395T>G (p.Val1132Gly)
c.3449T>G (n.3449T>G)
c.3215T>G (p.Val1072Gly)
c.3439T>G (n.3439T>G)
c.3014T>G (p.Val1005Gly)
c.3281T>G (p.Val1094Gly)
c.2732T>G (p.Val911Gly)
c.1943T>G (p.Val648Gly)
c.3770T>G (p.Val1257Gly)
c.3197T>G (p.Val1066Gly)
c.3122T>G (p.Val1041Gly)
c.1799T>G (p.Val600Gly)
 dbSNP gnomAD v2 gnomAD v4
3g.38872293A>GCA352171448SCN11Ac.3395T>C (p.Val1132Ala)
c.3449T>C (n.3449T>C)
c.3215T>C (p.Val1072Ala)
c.3439T>C (n.3439T>C)
c.3014T>C (p.Val1005Ala)
c.3281T>C (p.Val1094Ala)
c.2732T>C (p.Val911Ala)
c.1943T>C (p.Val648Ala)
c.3770T>C (p.Val1257Ala)
c.3197T>C (p.Val1066Ala)
c.3122T>C (p.Val1041Ala)
c.1799T>C (p.Val600Ala)
3g.38872293A>TCA352171450SCN11Ac.3395T>A (p.Val1132Asp)
c.3449T>A (n.3449T>A)
c.3215T>A (p.Val1072Asp)
c.3439T>A (n.3439T>A)
c.3014T>A (p.Val1005Asp)
c.3281T>A (p.Val1094Asp)
c.2732T>A (p.Val911Asp)
c.1943T>A (p.Val648Asp)
c.3770T>A (p.Val1257Asp)
c.3197T>A (p.Val1066Asp)
c.3122T>A (p.Val1041Asp)
c.1799T>A (p.Val600Asp)
3g.38872294C>ACA2321797SCN11Ac.3394G>T (p.Val1132Phe)
c.3448G>T (n.3448G>T)
c.3214G>T (p.Val1072Phe)
c.3438G>T (n.3438G>T)
c.3013G>T (p.Val1005Phe)
c.3280G>T (p.Val1094Phe)
c.2731G>T (p.Val911Phe)
c.1942G>T (p.Val648Phe)
c.3769G>T (p.Val1257Phe)
c.3196G>T (p.Val1066Phe)
c.3121G>T (p.Val1041Phe)
c.1798G>T (p.Val600Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38872294C=CA1358708041SCN11Ac.3394G= (p.Val1132=)
c.3448G= (n.3448G=)
c.3214G= (p.Val1072=)
c.3438G= (n.3438G=)
c.3013G= (p.Val1005=)
c.3280G= (p.Val1094=)
c.2731G= (p.Val911=)
c.1942G= (p.Val648=)
c.3769G= (p.Val1257=)
c.3196G= (p.Val1066=)
c.3121G= (p.Val1041=)
c.1798G= (p.Val600=)
3g.38872294C>GCA352171453SCN11Ac.3394G>C (p.Val1132Leu)
c.3448G>C (n.3448G>C)
c.3214G>C (p.Val1072Leu)
c.3438G>C (n.3438G>C)
c.3013G>C (p.Val1005Leu)
c.3280G>C (p.Val1094Leu)
c.2731G>C (p.Val911Leu)
c.1942G>C (p.Val648Leu)
c.3769G>C (p.Val1257Leu)
c.3196G>C (p.Val1066Leu)
c.3121G>C (p.Val1041Leu)
c.1798G>C (p.Val600Leu)
3g.38872294C>TCA352171452SCN11Ac.3394G>A (p.Val1132Ile)
c.3448G>A (n.3448G>A)
c.3214G>A (p.Val1072Ile)
c.3438G>A (n.3438G>A)
c.3013G>A (p.Val1005Ile)
c.3280G>A (p.Val1094Ile)
c.2731G>A (p.Val911Ile)
c.1942G>A (p.Val648Ile)
c.3769G>A (p.Val1257Ile)
c.3196G>A (p.Val1066Ile)
c.3121G>A (p.Val1041Ile)
c.1798G>A (p.Val600Ile)
 gnomAD v4
3g.38872295C>ACA352171457SCN11Ac.3394-1G>T (n.3394-1G>T)
c.3448-1G>T (n.3448-1G>T)
c.3214-1G>T (n.3214-1G>T)
c.3438-1G>T (n.3438-1G>T)
c.3013-1G>T (n.3013-1G>T)
c.3280-1G>T (n.3280-1G>T)
c.2731-1G>T (n.2731-1G>T)
c.1942-1G>T (n.1942-1G>T)
c.3769-1G>T (n.3769-1G>T)
c.3196-1G>T (n.3196-1G>T)
c.3121-1G>T (n.3121-1G>T)
c.1798-1G>T (n.1798-1G>T)
3g.38872295C=CA1358708044SCN11Ac.3394-1G= (n.3394-1G=)
c.3448-1G= (n.3448-1G=)
c.3214-1G= (n.3214-1G=)
c.3438-1G= (n.3438-1G=)
c.3013-1G= (n.3013-1G=)
c.3280-1G= (n.3280-1G=)
c.2731-1G= (n.2731-1G=)
c.1942-1G= (n.1942-1G=)
c.3769-1G= (n.3769-1G=)
c.3196-1G= (n.3196-1G=)
c.3121-1G= (n.3121-1G=)
c.1798-1G= (n.1798-1G=)
3g.38872295C>GCA352171461SCN11Ac.3394-1G>C (n.3394-1G>C)
c.3448-1G>C (n.3448-1G>C)
c.3214-1G>C (n.3214-1G>C)
c.3438-1G>C (n.3438-1G>C)
c.3013-1G>C (n.3013-1G>C)
c.3280-1G>C (n.3280-1G>C)
c.2731-1G>C (n.2731-1G>C)
c.1942-1G>C (n.1942-1G>C)
c.3769-1G>C (n.3769-1G>C)
c.3196-1G>C (n.3196-1G>C)
c.3121-1G>C (n.3121-1G>C)
c.1798-1G>C (n.1798-1G>C)
3g.38872295C>TCA352171459SCN11Ac.3394-1G>A (n.3394-1G>A)
c.3448-1G>A (n.3448-1G>A)
c.3214-1G>A (n.3214-1G>A)
c.3438-1G>A (n.3438-1G>A)
c.3013-1G>A (n.3013-1G>A)
c.3280-1G>A (n.3280-1G>A)
c.2731-1G>A (n.2731-1G>A)
c.1942-1G>A (n.1942-1G>A)
c.3769-1G>A (n.3769-1G>A)
c.3196-1G>A (n.3196-1G>A)
c.3121-1G>A (n.3121-1G>A)
c.1798-1G>A (n.1798-1G>A)
 dbSNP gnomAD v2 gnomAD v4
3g.38872296T>ACA352171463SCN11Ac.3394-2A>T (n.3394-2A>T)
c.3448-2A>T (n.3448-2A>T)
c.3214-2A>T (n.3214-2A>T)
c.3438-2A>T (n.3438-2A>T)
c.3013-2A>T (n.3013-2A>T)
c.3280-2A>T (n.3280-2A>T)
c.2731-2A>T (n.2731-2A>T)
c.1942-2A>T (n.1942-2A>T)
c.3769-2A>T (n.3769-2A>T)
c.3196-2A>T (n.3196-2A>T)
c.3121-2A>T (n.3121-2A>T)
c.1798-2A>T (n.1798-2A>T)
3g.38872296T>CCA352171467SCN11Ac.3394-2A>G (n.3394-2A>G)
c.3448-2A>G (n.3448-2A>G)
c.3214-2A>G (n.3214-2A>G)
c.3438-2A>G (n.3438-2A>G)
c.3013-2A>G (n.3013-2A>G)
c.3280-2A>G (n.3280-2A>G)
c.2731-2A>G (n.2731-2A>G)
c.1942-2A>G (n.1942-2A>G)
c.3769-2A>G (n.3769-2A>G)
c.3196-2A>G (n.3196-2A>G)
c.3121-2A>G (n.3121-2A>G)
c.1798-2A>G (n.1798-2A>G)
 gnomAD v4
3g.38872296T>GCA352171465SCN11Ac.3394-2A>C (n.3394-2A>C)
c.3448-2A>C (n.3448-2A>C)
c.3214-2A>C (n.3214-2A>C)
c.3438-2A>C (n.3438-2A>C)
c.3013-2A>C (n.3013-2A>C)
c.3280-2A>C (n.3280-2A>C)
c.2731-2A>C (n.2731-2A>C)
c.1942-2A>C (n.1942-2A>C)
c.3769-2A>C (n.3769-2A>C)
c.3196-2A>C (n.3196-2A>C)
c.3121-2A>C (n.3121-2A>C)
c.1798-2A>C (n.1798-2A>C)
3g.38872297G>ACA2665126271SCN11Ac.3394-3C>T (n.3394-3C>T)
c.3448-3C>T (n.3448-3C>T)
c.3214-3C>T (n.3214-3C>T)
c.3438-3C>T (n.3438-3C>T)
c.3013-3C>T (n.3013-3C>T)
c.3280-3C>T (n.3280-3C>T)
c.2731-3C>T (n.2731-3C>T)
c.1942-3C>T (n.1942-3C>T)
c.3769-3C>T (n.3769-3C>T)
c.3196-3C>T (n.3196-3C>T)
c.3121-3C>T (n.3121-3C>T)
c.1798-3C>T (n.1798-3C>T)
 gnomAD v4
3g.38872297G>TCA2665126272SCN11Ac.3394-3C>A (n.3394-3C>A)
c.3448-3C>A (n.3448-3C>A)
c.3214-3C>A (n.3214-3C>A)
c.3438-3C>A (n.3438-3C>A)
c.3013-3C>A (n.3013-3C>A)
c.3280-3C>A (n.3280-3C>A)
c.2731-3C>A (n.2731-3C>A)
c.1942-3C>A (n.1942-3C>A)
c.3769-3C>A (n.3769-3C>A)
c.3196-3C>A (n.3196-3C>A)
c.3121-3C>A (n.3121-3C>A)
c.1798-3C>A (n.1798-3C>A)
 gnomAD v4
3g.38872298A=CA1358708047SCN11Ac.3394-4T= (n.3394-4T=)
c.3448-4T= (n.3448-4T=)
c.3214-4T= (n.3214-4T=)
c.3438-4T= (n.3438-4T=)
c.3013-4T= (n.3013-4T=)
c.3280-4T= (n.3280-4T=)
c.2731-4T= (n.2731-4T=)
c.1942-4T= (n.1942-4T=)
c.3769-4T= (n.3769-4T=)
c.3196-4T= (n.3196-4T=)
c.3121-4T= (n.3121-4T=)
c.1798-4T= (n.1798-4T=)
3g.38872298A>GCA542283987SCN11Ac.3394-4T>C (n.3394-4T>C)
c.3448-4T>C (n.3448-4T>C)
c.3214-4T>C (n.3214-4T>C)
c.3438-4T>C (n.3438-4T>C)
c.3013-4T>C (n.3013-4T>C)
c.3280-4T>C (n.3280-4T>C)
c.2731-4T>C (n.2731-4T>C)
c.1942-4T>C (n.1942-4T>C)
c.3769-4T>C (n.3769-4T>C)
c.3196-4T>C (n.3196-4T>C)
c.3121-4T>C (n.3121-4T>C)
c.1798-4T>C (n.1798-4T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38872299T>CCA542283990SCN11Ac.3394-5A>G (n.3394-5A>G)
c.3448-5A>G (n.3448-5A>G)
c.3214-5A>G (n.3214-5A>G)
c.3438-5A>G (n.3438-5A>G)
c.3013-5A>G (n.3013-5A>G)
c.3280-5A>G (n.3280-5A>G)
c.2731-5A>G (n.2731-5A>G)
c.1942-5A>G (n.1942-5A>G)
c.3769-5A>G (n.3769-5A>G)
c.3196-5A>G (n.3196-5A>G)
c.3121-5A>G (n.3121-5A>G)
c.1798-5A>G (n.1798-5A>G)
 dbSNP gnomAD v2 gnomAD v4
3g.38872299T=CA1358708049SCN11Ac.3394-5A= (n.3394-5A=)
c.3448-5A= (n.3448-5A=)
c.3214-5A= (n.3214-5A=)
c.3438-5A= (n.3438-5A=)
c.3013-5A= (n.3013-5A=)
c.3280-5A= (n.3280-5A=)
c.2731-5A= (n.2731-5A=)
c.1942-5A= (n.1942-5A=)
c.3769-5A= (n.3769-5A=)
c.3196-5A= (n.3196-5A=)
c.3121-5A= (n.3121-5A=)
c.1798-5A= (n.1798-5A=)
3g.38872300G>ACA2665126273SCN11Ac.3394-6C>T (n.3394-6C>T)
c.3448-6C>T (n.3448-6C>T)
c.3214-6C>T (n.3214-6C>T)
c.3438-6C>T (n.3438-6C>T)
c.3013-6C>T (n.3013-6C>T)
c.3280-6C>T (n.3280-6C>T)
c.2731-6C>T (n.2731-6C>T)
c.1942-6C>T (n.1942-6C>T)
c.3769-6C>T (n.3769-6C>T)
c.3196-6C>T (n.3196-6C>T)
c.3121-6C>T (n.3121-6C>T)
c.1798-6C>T (n.1798-6C>T)
 gnomAD v4
3g.38872300G>TCA2665126274SCN11Ac.3394-6C>A (n.3394-6C>A)
c.3448-6C>A (n.3448-6C>A)
c.3214-6C>A (n.3214-6C>A)
c.3438-6C>A (n.3438-6C>A)
c.3013-6C>A (n.3013-6C>A)
c.3280-6C>A (n.3280-6C>A)
c.2731-6C>A (n.2731-6C>A)
c.1942-6C>A (n.1942-6C>A)
c.3769-6C>A (n.3769-6C>A)
c.3196-6C>A (n.3196-6C>A)
c.3121-6C>A (n.3121-6C>A)
c.1798-6C>A (n.1798-6C>A)
 gnomAD v4
3g.38872302delCA2577554762SCN11Ac.3394-6del (n.3394-6del)
c.3448-6del (n.3448-6del)
c.3214-6del (n.3214-6del)
c.3438-6del (n.3438-6del)
c.3013-6del (n.3013-6del)
c.3280-6del (n.3280-6del)
c.2731-6del (n.2731-6del)
c.1942-6del (n.1942-6del)
c.3769-6del (n.3769-6del)
c.3196-6del (n.3196-6del)
c.3121-6del (n.3121-6del)
c.1798-6del (n.1798-6del)
 gnomAD v4
3g.38872301G>ACA2665126275SCN11Ac.3394-7C>T (n.3394-7C>T)
c.3448-7C>T (n.3448-7C>T)
c.3214-7C>T (n.3214-7C>T)
c.3438-7C>T (n.3438-7C>T)
c.3013-7C>T (n.3013-7C>T)
c.3280-7C>T (n.3280-7C>T)
c.2731-7C>T (n.2731-7C>T)
c.1942-7C>T (n.1942-7C>T)
c.3769-7C>T (n.3769-7C>T)
c.3196-7C>T (n.3196-7C>T)
c.3121-7C>T (n.3121-7C>T)
c.1798-7C>T (n.1798-7C>T)
 gnomAD v4
3g.38872301G>TCA2665126276SCN11Ac.3394-7C>A (n.3394-7C>A)
c.3448-7C>A (n.3448-7C>A)
c.3214-7C>A (n.3214-7C>A)
c.3438-7C>A (n.3438-7C>A)
c.3013-7C>A (n.3013-7C>A)
c.3280-7C>A (n.3280-7C>A)
c.2731-7C>A (n.2731-7C>A)
c.1942-7C>A (n.1942-7C>A)
c.3769-7C>A (n.3769-7C>A)
c.3196-7C>A (n.3196-7C>A)
c.3121-7C>A (n.3121-7C>A)
c.1798-7C>A (n.1798-7C>A)
 gnomAD v4
3g.38872302G>ACA2665126277SCN11Ac.3394-8C>T (n.3394-8C>T)
c.3448-8C>T (n.3448-8C>T)
c.3214-8C>T (n.3214-8C>T)
c.3438-8C>T (n.3438-8C>T)
c.3013-8C>T (n.3013-8C>T)
c.3280-8C>T (n.3280-8C>T)
c.2731-8C>T (n.2731-8C>T)
c.1942-8C>T (n.1942-8C>T)
c.3769-8C>T (n.3769-8C>T)
c.3196-8C>T (n.3196-8C>T)
c.3121-8C>T (n.3121-8C>T)
c.1798-8C>T (n.1798-8C>T)
 gnomAD v4
3g.38872302G>CCA542283993SCN11Ac.3394-8C>G (n.3394-8C>G)
c.3448-8C>G (n.3448-8C>G)
c.3214-8C>G (n.3214-8C>G)
c.3438-8C>G (n.3438-8C>G)
c.3013-8C>G (n.3013-8C>G)
c.3280-8C>G (n.3280-8C>G)
c.2731-8C>G (n.2731-8C>G)
c.1942-8C>G (n.1942-8C>G)
c.3769-8C>G (n.3769-8C>G)
c.3196-8C>G (n.3196-8C>G)
c.3121-8C>G (n.3121-8C>G)
c.1798-8C>G (n.1798-8C>G)
 dbSNP gnomAD v2 gnomAD v4
3g.38872302G=CA1358708052SCN11Ac.3394-8C= (n.3394-8C=)
c.3448-8C= (n.3448-8C=)
c.3214-8C= (n.3214-8C=)
c.3438-8C= (n.3438-8C=)
c.3013-8C= (n.3013-8C=)
c.3280-8C= (n.3280-8C=)
c.2731-8C= (n.2731-8C=)
c.1942-8C= (n.1942-8C=)
c.3769-8C= (n.3769-8C=)
c.3196-8C= (n.3196-8C=)
c.3121-8C= (n.3121-8C=)
c.1798-8C= (n.1798-8C=)
3g.38872302G>TCA2665126278SCN11Ac.3394-8C>A (n.3394-8C>A)
c.3448-8C>A (n.3448-8C>A)
c.3214-8C>A (n.3214-8C>A)
c.3438-8C>A (n.3438-8C>A)
c.3013-8C>A (n.3013-8C>A)
c.3280-8C>A (n.3280-8C>A)
c.2731-8C>A (n.2731-8C>A)
c.1942-8C>A (n.1942-8C>A)
c.3769-8C>A (n.3769-8C>A)
c.3196-8C>A (n.3196-8C>A)
c.3121-8C>A (n.3121-8C>A)
c.1798-8C>A (n.1798-8C>A)
 gnomAD v4
3g.38872303A>GCA2665126279SCN11Ac.3394-9T>C (n.3394-9T>C)
c.3448-9T>C (n.3448-9T>C)
c.3214-9T>C (n.3214-9T>C)
c.3438-9T>C (n.3438-9T>C)
c.3013-9T>C (n.3013-9T>C)
c.3280-9T>C (n.3280-9T>C)
c.2731-9T>C (n.2731-9T>C)
c.1942-9T>C (n.1942-9T>C)
c.3769-9T>C (n.3769-9T>C)
c.3196-9T>C (n.3196-9T>C)
c.3121-9T>C (n.3121-9T>C)
c.1798-9T>C (n.1798-9T>C)
 gnomAD v4
3g.38872304A>GCA2665126280SCN11Ac.3394-10T>C (n.3394-10T>C)
c.3448-10T>C (n.3448-10T>C)
c.3214-10T>C (n.3214-10T>C)
c.3438-10T>C (n.3438-10T>C)
c.3013-10T>C (n.3013-10T>C)
c.3280-10T>C (n.3280-10T>C)
c.2731-10T>C (n.2731-10T>C)
c.1942-10T>C (n.1942-10T>C)
c.3769-10T>C (n.3769-10T>C)
c.3196-10T>C (n.3196-10T>C)
c.3121-10T>C (n.3121-10T>C)
c.1798-10T>C (n.1798-10T>C)
 gnomAD v4
3g.38872305G>ACA2665126282SCN11Ac.3394-11C>T (n.3394-11C>T)
c.3448-11C>T (n.3448-11C>T)
c.3214-11C>T (n.3214-11C>T)
c.3438-11C>T (n.3438-11C>T)
c.3013-11C>T (n.3013-11C>T)
c.3280-11C>T (n.3280-11C>T)
c.2731-11C>T (n.2731-11C>T)
c.1942-11C>T (n.1942-11C>T)
c.3769-11C>T (n.3769-11C>T)
c.3196-11C>T (n.3196-11C>T)
c.3121-11C>T (n.3121-11C>T)
c.1798-11C>T (n.1798-11C>T)
 gnomAD v4
3g.38872305G>TCA2665126281SCN11Ac.3394-11C>A (n.3394-11C>A)
c.3448-11C>A (n.3448-11C>A)
c.3214-11C>A (n.3214-11C>A)
c.3438-11C>A (n.3438-11C>A)
c.3013-11C>A (n.3013-11C>A)
c.3280-11C>A (n.3280-11C>A)
c.2731-11C>A (n.2731-11C>A)
c.1942-11C>A (n.1942-11C>A)
c.3769-11C>A (n.3769-11C>A)
c.3196-11C>A (n.3196-11C>A)
c.3121-11C>A (n.3121-11C>A)
c.1798-11C>A (n.1798-11C>A)
 gnomAD v4
3g.38872306A=CA1358708053SCN11Ac.3394-12T= (n.3394-12T=)
c.3448-12T= (n.3448-12T=)
c.3214-12T= (n.3214-12T=)
c.3438-12T= (n.3438-12T=)
c.3013-12T= (n.3013-12T=)
c.3280-12T= (n.3280-12T=)
c.2731-12T= (n.2731-12T=)
c.1942-12T= (n.1942-12T=)
c.3769-12T= (n.3769-12T=)
c.3196-12T= (n.3196-12T=)
c.3121-12T= (n.3121-12T=)
c.1798-12T= (n.1798-12T=)
3g.38872306A>GCA1358708055SCN11Ac.3394-12T>C (n.3394-12T>C)
c.3448-12T>C (n.3448-12T>C)
c.3214-12T>C (n.3214-12T>C)
c.3438-12T>C (n.3438-12T>C)
c.3013-12T>C (n.3013-12T>C)
c.3280-12T>C (n.3280-12T>C)
c.2731-12T>C (n.2731-12T>C)
c.1942-12T>C (n.1942-12T>C)
c.3769-12T>C (n.3769-12T>C)
c.3196-12T>C (n.3196-12T>C)
c.3121-12T>C (n.3121-12T>C)
c.1798-12T>C (n.1798-12T>C)
 dbSNP gnomAD v4
3g.38872307G>ACA2755907049SCN11Ac.3394-13C>T (n.3394-13C>T)
c.3448-13C>T (n.3448-13C>T)
c.3214-13C>T (n.3214-13C>T)
c.3438-13C>T (n.3438-13C>T)
c.3013-13C>T (n.3013-13C>T)
c.3280-13C>T (n.3280-13C>T)
c.2731-13C>T (n.2731-13C>T)
c.1942-13C>T (n.1942-13C>T)
c.3769-13C>T (n.3769-13C>T)
c.3196-13C>T (n.3196-13C>T)
c.3121-13C>T (n.3121-13C>T)
c.1798-13C>T (n.1798-13C>T)
3g.38872307G=CA1358708057SCN11Ac.3394-13C= (n.3394-13C=)
c.3448-13C= (n.3448-13C=)
c.3214-13C= (n.3214-13C=)
c.3438-13C= (n.3438-13C=)
c.3013-13C= (n.3013-13C=)
c.3280-13C= (n.3280-13C=)
c.2731-13C= (n.2731-13C=)
c.1942-13C= (n.1942-13C=)
c.3769-13C= (n.3769-13C=)
c.3196-13C= (n.3196-13C=)
c.3121-13C= (n.3121-13C=)
c.1798-13C= (n.1798-13C=)
3g.38872307G>TCA1358708058SCN11Ac.3394-13C>A (n.3394-13C>A)
c.3448-13C>A (n.3448-13C>A)
c.3214-13C>A (n.3214-13C>A)
c.3438-13C>A (n.3438-13C>A)
c.3013-13C>A (n.3013-13C>A)
c.3280-13C>A (n.3280-13C>A)
c.2731-13C>A (n.2731-13C>A)
c.1942-13C>A (n.1942-13C>A)
c.3769-13C>A (n.3769-13C>A)
c.3196-13C>A (n.3196-13C>A)
c.3121-13C>A (n.3121-13C>A)
c.1798-13C>A (n.1798-13C>A)
 dbSNP gnomAD v4
3g.38872308A>GCA2665126283SCN11Ac.3394-14T>C (n.3394-14T>C)
c.3448-14T>C (n.3448-14T>C)
c.3214-14T>C (n.3214-14T>C)
c.3438-14T>C (n.3438-14T>C)
c.3013-14T>C (n.3013-14T>C)
c.3280-14T>C (n.3280-14T>C)
c.2731-14T>C (n.2731-14T>C)
c.1942-14T>C (n.1942-14T>C)
c.3769-14T>C (n.3769-14T>C)
c.3196-14T>C (n.3196-14T>C)
c.3121-14T>C (n.3121-14T>C)
c.1798-14T>C (n.1798-14T>C)
 gnomAD v4
3g.38872309G>CCA2573136922SCN11Ac.3394-15C>G (n.3394-15C>G)
c.3448-15C>G (n.3448-15C>G)
c.3214-15C>G (n.3214-15C>G)
c.3438-15C>G (n.3438-15C>G)
c.3013-15C>G (n.3013-15C>G)
c.3280-15C>G (n.3280-15C>G)
c.2731-15C>G (n.2731-15C>G)
c.1942-15C>G (n.1942-15C>G)
c.3769-15C>G (n.3769-15C>G)
c.3196-15C>G (n.3196-15C>G)
c.3121-15C>G (n.3121-15C>G)
c.1798-15C>G (n.1798-15C>G)
 ClinVar dbSNP
3g.38872309G>TCA2665126284SCN11Ac.3394-15C>A (n.3394-15C>A)
c.3448-15C>A (n.3448-15C>A)
c.3214-15C>A (n.3214-15C>A)
c.3438-15C>A (n.3438-15C>A)
c.3013-15C>A (n.3013-15C>A)
c.3280-15C>A (n.3280-15C>A)
c.2731-15C>A (n.2731-15C>A)
c.1942-15C>A (n.1942-15C>A)
c.3769-15C>A (n.3769-15C>A)
c.3196-15C>A (n.3196-15C>A)
c.3121-15C>A (n.3121-15C>A)
c.1798-15C>A (n.1798-15C>A)
 gnomAD v4
3g.38872310G>ACA2321798SCN11Ac.3394-16C>T (n.3394-16C>T)
c.3448-16C>T (n.3448-16C>T)
c.3214-16C>T (n.3214-16C>T)
c.3438-16C>T (n.3438-16C>T)
c.3013-16C>T (n.3013-16C>T)
c.3280-16C>T (n.3280-16C>T)
c.2731-16C>T (n.2731-16C>T)
c.1942-16C>T (n.1942-16C>T)
c.3769-16C>T (n.3769-16C>T)
c.3196-16C>T (n.3196-16C>T)
c.3121-16C>T (n.3121-16C>T)
c.1798-16C>T (n.1798-16C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38872310G=CA1358708061SCN11Ac.3394-16C= (n.3394-16C=)
c.3448-16C= (n.3448-16C=)
c.3214-16C= (n.3214-16C=)
c.3438-16C= (n.3438-16C=)
c.3013-16C= (n.3013-16C=)
c.3280-16C= (n.3280-16C=)
c.2731-16C= (n.2731-16C=)
c.1942-16C= (n.1942-16C=)
c.3769-16C= (n.3769-16C=)
c.3196-16C= (n.3196-16C=)
c.3121-16C= (n.3121-16C=)
c.1798-16C= (n.1798-16C=)
3g.38872310G>TCA906889356SCN11Ac.3394-16C>A (n.3394-16C>A)
c.3448-16C>A (n.3448-16C>A)
c.3214-16C>A (n.3214-16C>A)
c.3438-16C>A (n.3438-16C>A)
c.3013-16C>A (n.3013-16C>A)
c.3280-16C>A (n.3280-16C>A)
c.2731-16C>A (n.2731-16C>A)
c.1942-16C>A (n.1942-16C>A)
c.3769-16C>A (n.3769-16C>A)
c.3196-16C>A (n.3196-16C>A)
c.3121-16C>A (n.3121-16C>A)
c.1798-16C>A (n.1798-16C>A)
 dbSNP gnomAD v3 gnomAD v4
3g.38872311C=CA1358708064SCN11Ac.3394-17G= (n.3394-17G=)
c.3448-17G= (n.3448-17G=)
c.3214-17G= (n.3214-17G=)
c.3438-17G= (n.3438-17G=)
c.3013-17G= (n.3013-17G=)
c.3280-17G= (n.3280-17G=)
c.2731-17G= (n.2731-17G=)
c.1942-17G= (n.1942-17G=)
c.3769-17G= (n.3769-17G=)
c.3196-17G= (n.3196-17G=)
c.3121-17G= (n.3121-17G=)
c.1798-17G= (n.1798-17G=)
3g.38872311C>GCA542283996SCN11Ac.3394-17G>C (n.3394-17G>C)
c.3448-17G>C (n.3448-17G>C)
c.3214-17G>C (n.3214-17G>C)
c.3438-17G>C (n.3438-17G>C)
c.3013-17G>C (n.3013-17G>C)
c.3280-17G>C (n.3280-17G>C)
c.2731-17G>C (n.2731-17G>C)
c.1942-17G>C (n.1942-17G>C)
c.3769-17G>C (n.3769-17G>C)
c.3196-17G>C (n.3196-17G>C)
c.3121-17G>C (n.3121-17G>C)
c.1798-17G>C (n.1798-17G>C)
 dbSNP gnomAD v2 gnomAD v4
3g.38872311C>TCA2665126285SCN11Ac.3394-17G>A (n.3394-17G>A)
c.3448-17G>A (n.3448-17G>A)
c.3214-17G>A (n.3214-17G>A)
c.3438-17G>A (n.3438-17G>A)
c.3013-17G>A (n.3013-17G>A)
c.3280-17G>A (n.3280-17G>A)
c.2731-17G>A (n.2731-17G>A)
c.1942-17G>A (n.1942-17G>A)
c.3769-17G>A (n.3769-17G>A)
c.3196-17G>A (n.3196-17G>A)
c.3121-17G>A (n.3121-17G>A)
c.1798-17G>A (n.1798-17G>A)
 gnomAD v4
3g.38872312delCA2577554767SCN11Ac.3394-17del (n.3394-17del)
c.3448-17del (n.3448-17del)
c.3214-17del (n.3214-17del)
c.3438-17del (n.3438-17del)
c.3013-17del (n.3013-17del)
c.3280-17del (n.3280-17del)
c.2731-17del (n.2731-17del)
c.1942-17del (n.1942-17del)
c.3769-17del (n.3769-17del)
c.3196-17del (n.3196-17del)
c.3121-17del (n.3121-17del)
c.1798-17del (n.1798-17del)
 gnomAD v4
3g.38872312C>ACA2577554768SCN11Ac.3394-18G>T (n.3394-18G>T)
c.3448-18G>T (n.3448-18G>T)
c.3214-18G>T (n.3214-18G>T)
c.3438-18G>T (n.3438-18G>T)
c.3013-18G>T (n.3013-18G>T)
c.3280-18G>T (n.3280-18G>T)
c.2731-18G>T (n.2731-18G>T)
c.1942-18G>T (n.1942-18G>T)
c.3769-18G>T (n.3769-18G>T)
c.3196-18G>T (n.3196-18G>T)
c.3121-18G>T (n.3121-18G>T)
c.1798-18G>T (n.1798-18G>T)
3g.38872312C>GCA2665126286SCN11Ac.3394-18G>C (n.3394-18G>C)
c.3448-18G>C (n.3448-18G>C)
c.3214-18G>C (n.3214-18G>C)
c.3438-18G>C (n.3438-18G>C)
c.3013-18G>C (n.3013-18G>C)
c.3280-18G>C (n.3280-18G>C)
c.2731-18G>C (n.2731-18G>C)
c.1942-18G>C (n.1942-18G>C)
c.3769-18G>C (n.3769-18G>C)
c.3196-18G>C (n.3196-18G>C)
c.3121-18G>C (n.3121-18G>C)
c.1798-18G>C (n.1798-18G>C)
 gnomAD v4
3g.38872312C>TCA2665126287SCN11Ac.3394-18G>A (n.3394-18G>A)
c.3448-18G>A (n.3448-18G>A)
c.3214-18G>A (n.3214-18G>A)
c.3438-18G>A (n.3438-18G>A)
c.3013-18G>A (n.3013-18G>A)
c.3280-18G>A (n.3280-18G>A)
c.2731-18G>A (n.2731-18G>A)
c.1942-18G>A (n.1942-18G>A)
c.3769-18G>A (n.3769-18G>A)
c.3196-18G>A (n.3196-18G>A)
c.3121-18G>A (n.3121-18G>A)
c.1798-18G>A (n.1798-18G>A)
 gnomAD v4
3g.38872313A=CA1358708066SCN11Ac.3394-19T= (n.3394-19T=)
c.3448-19T= (n.3448-19T=)
c.3214-19T= (n.3214-19T=)
c.3438-19T= (n.3438-19T=)
c.3013-19T= (n.3013-19T=)
c.3280-19T= (n.3280-19T=)
c.2731-19T= (n.2731-19T=)
c.1942-19T= (n.1942-19T=)
c.3769-19T= (n.3769-19T=)
c.3196-19T= (n.3196-19T=)
c.3121-19T= (n.3121-19T=)
c.1798-19T= (n.1798-19T=)
3g.38872313A>CCA2321799SCN11Ac.3394-19T>G (n.3394-19T>G)
c.3448-19T>G (n.3448-19T>G)
c.3214-19T>G (n.3214-19T>G)
c.3438-19T>G (n.3438-19T>G)
c.3013-19T>G (n.3013-19T>G)
c.3280-19T>G (n.3280-19T>G)
c.2731-19T>G (n.2731-19T>G)
c.1942-19T>G (n.1942-19T>G)
c.3769-19T>G (n.3769-19T>G)
c.3196-19T>G (n.3196-19T>G)
c.3121-19T>G (n.3121-19T>G)
c.1798-19T>G (n.1798-19T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38872313A>GCA2665126288SCN11Ac.3394-19T>C (n.3394-19T>C)
c.3448-19T>C (n.3448-19T>C)
c.3214-19T>C (n.3214-19T>C)
c.3438-19T>C (n.3438-19T>C)
c.3013-19T>C (n.3013-19T>C)
c.3280-19T>C (n.3280-19T>C)
c.2731-19T>C (n.2731-19T>C)
c.1942-19T>C (n.1942-19T>C)
c.3769-19T>C (n.3769-19T>C)
c.3196-19T>C (n.3196-19T>C)
c.3121-19T>C (n.3121-19T>C)
c.1798-19T>C (n.1798-19T>C)
 gnomAD v4
3g.38872314C>TCA2665126289SCN11Ac.3394-20G>A (n.3394-20G>A)
c.3448-20G>A (n.3448-20G>A)
c.3214-20G>A (n.3214-20G>A)
c.3438-20G>A (n.3438-20G>A)
c.3013-20G>A (n.3013-20G>A)
c.3280-20G>A (n.3280-20G>A)
c.2731-20G>A (n.2731-20G>A)
c.1942-20G>A (n.1942-20G>A)
c.3769-20G>A (n.3769-20G>A)
c.3196-20G>A (n.3196-20G>A)
c.3121-20G>A (n.3121-20G>A)
c.1798-20G>A (n.1798-20G>A)
 gnomAD v4
3g.38872315A>GCA2577554769SCN11Ac.3394-21T>C (n.3394-21T>C)
c.3448-21T>C (n.3448-21T>C)
c.3214-21T>C (n.3214-21T>C)
c.3438-21T>C (n.3438-21T>C)
c.3013-21T>C (n.3013-21T>C)
c.3280-21T>C (n.3280-21T>C)
c.2731-21T>C (n.2731-21T>C)
c.1942-21T>C (n.1942-21T>C)
c.3769-21T>C (n.3769-21T>C)
c.3196-21T>C (n.3196-21T>C)
c.3121-21T>C (n.3121-21T>C)
c.1798-21T>C (n.1798-21T>C)
 gnomAD v4

Number of alleles fetched