Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.153954763G>ACA519702629HCFC1c.3636C>T (p.Ala1212=)
c.3438C>T (p.Ala1146=)
c.2727C>T (p.Ala909=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.153954763G>CCA519702631HCFC1c.3636C>G (p.Ala1212=)
c.3438C>G (p.Ala1146=)
c.2727C>G (p.Ala909=)
 gnomAD v4
Xg.153954763G=CA2466540267HCFC1c.3636C= (p.Ala1212=)
c.3438C= (p.Ala1146=)
c.2727C= (p.Ala909=)
Xg.153954763G>TCA519702633HCFC1c.3636C>A (p.Ala1212=)
c.3438C>A (p.Ala1146=)
c.2727C>A (p.Ala909=)
Xg.153954764G>ACA415120100HCFC1c.3635C>T (p.Ala1212Val)
c.3437C>T (p.Ala1146Val)
c.2726C>T (p.Ala909Val)
 dbSNP gnomAD v2 gnomAD v4
Xg.153954764G>CCA415120096HCFC1c.3635C>G (p.Ala1212Gly)
c.3437C>G (p.Ala1146Gly)
c.2726C>G (p.Ala909Gly)
Xg.153954764G=CA2466540268HCFC1c.3635C= (p.Ala1212=)
c.3437C= (p.Ala1146=)
c.2726C= (p.Ala909=)
Xg.153954764G>TCA415120093HCFC1c.3635C>A (p.Ala1212Asp)
c.3437C>A (p.Ala1146Asp)
c.2726C>A (p.Ala909Asp)
 gnomAD v4
Xg.153954765C>ACA415120101HCFC1c.3634G>T (p.Ala1212Ser)
c.3436G>T (p.Ala1146Ser)
c.2725G>T (p.Ala909Ser)
Xg.153954765C>GCA415120102HCFC1c.3634G>C (p.Ala1212Pro)
c.3436G>C (p.Ala1146Pro)
c.2725G>C (p.Ala909Pro)
Xg.153954765C>TCA415120103HCFC1c.3634G>A (p.Ala1212Thr)
c.3436G>A (p.Ala1146Thr)
c.2725G>A (p.Ala909Thr)
 gnomAD v4
Xg.153954766C>ACA415120104HCFC1c.3633G>T (p.Leu1211Phe)
c.3435G>T (p.Leu1145Phe)
c.2724G>T (p.Leu908Phe)
 gnomAD v4
Xg.153954766C>GCA415120105HCFC1c.3633G>C (p.Leu1211Phe)
c.3435G>C (p.Leu1145Phe)
c.2724G>C (p.Leu908Phe)
Xg.153954766C>TCA519702637HCFC1c.3633G>A (p.Leu1211=)
c.3435G>A (p.Leu1145=)
c.2724G>A (p.Leu908=)
 gnomAD v4
Xg.153954767A>CCA415122505HCFC1c.3632T>G (p.Leu1211Trp)
c.3434T>G (p.Leu1145Trp)
c.2723T>G (p.Leu908Trp)
Xg.153954767A>GCA415122509HCFC1c.3632T>C (p.Leu1211Ser)
c.3434T>C (p.Leu1145Ser)
c.2723T>C (p.Leu908Ser)
Xg.153954767A>TCA415122512HCFC1c.3632T>A (p.Leu1211Ter)
c.3434T>A (p.Leu1145Ter)
c.2723T>A (p.Leu908Ter)
Xg.153954768A>CCA415122516HCFC1c.3631T>G (p.Leu1211Val)
c.3433T>G (p.Leu1145Val)
c.2722T>G (p.Leu908Val)
Xg.153954768A>GCA519701943HCFC1c.3631T>C (p.Leu1211=)
c.3433T>C (p.Leu1145=)
c.2722T>C (p.Leu908=)
Xg.153954768A>TCA415122520HCFC1c.3631T>A (p.Leu1211Met)
c.3433T>A (p.Leu1145Met)
c.2722T>A (p.Leu908Met)
Xg.153954769C>ACA415122533HCFC1c.3630G>T (p.Gln1210His)
c.3432G>T (p.Gln1144His)
c.2721G>T (p.Gln907His)
 dbSNP gnomAD v3 gnomAD v4
Xg.153954769C=CA2466540269HCFC1c.3630G= (p.Gln1210=)
c.3432G= (p.Gln1144=)
c.2721G= (p.Gln907=)
Xg.153954769C>GCA415122536HCFC1c.3630G>C (p.Gln1210His)
c.3432G>C (p.Gln1144His)
c.2721G>C (p.Gln907His)
 gnomAD v4
Xg.153954769C>TCA519701944HCFC1c.3630G>A (p.Gln1210=)
c.3432G>A (p.Gln1144=)
c.2721G>A (p.Gln907=)
 gnomAD v4
Xg.153954770T>ACA415122545HCFC1c.3629A>T (p.Gln1210Leu)
c.3431A>T (p.Gln1144Leu)
c.2720A>T (p.Gln907Leu)
Xg.153954770T>CCA415122556HCFC1c.3629A>G (p.Gln1210Arg)
c.3431A>G (p.Gln1144Arg)
c.2720A>G (p.Gln907Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954770T>GCA415122543HCFC1c.3629A>C (p.Gln1210Pro)
c.3431A>C (p.Gln1144Pro)
c.2720A>C (p.Gln907Pro)
Xg.153954770T=CA2466540270HCFC1c.3629A= (p.Gln1210=)
c.3431A= (p.Gln1144=)
c.2720A= (p.Gln907=)
Xg.153954771G>ACA415122560HCFC1c.3628C>T (p.Gln1210Ter)
c.3430C>T (p.Gln1144Ter)
c.2719C>T (p.Gln907Ter)
 gnomAD v4
Xg.153954771G>CCA415122563HCFC1c.3628C>G (p.Gln1210Glu)
c.3430C>G (p.Gln1144Glu)
c.2719C>G (p.Gln907Glu)
Xg.153954771G>TCA415122565HCFC1c.3628C>A (p.Gln1210Lys)
c.3430C>A (p.Gln1144Lys)
c.2719C>A (p.Gln907Lys)
 gnomAD v4
Xg.153954772C>ACA10557161HCFC1c.3627G>T (p.Val1209=)
c.3429G>T (p.Val1143=)
c.2718G>T (p.Val906=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153954772C=CA2466540271HCFC1c.3627G= (p.Val1209=)
c.3429G= (p.Val1143=)
c.2718G= (p.Val906=)
Xg.153954772C>GCA519701945HCFC1c.3627G>C (p.Val1209=)
c.3429G>C (p.Val1143=)
c.2718G>C (p.Val906=)
Xg.153954772C>TCA519701946HCFC1c.3627G>A (p.Val1209=)
c.3429G>A (p.Val1143=)
c.2718G>A (p.Val906=)
 gnomAD v4
Xg.153954773A>CCA415122570HCFC1c.3626T>G (p.Val1209Gly)
c.3428T>G (p.Val1143Gly)
c.2717T>G (p.Val906Gly)
Xg.153954773A>GCA415122573HCFC1c.3626T>C (p.Val1209Ala)
c.3428T>C (p.Val1143Ala)
c.2717T>C (p.Val906Ala)
Xg.153954773A>TCA415122586HCFC1c.3626T>A (p.Val1209Glu)
c.3428T>A (p.Val1143Glu)
c.2717T>A (p.Val906Glu)
Xg.153954774C>ACA415122589HCFC1c.3625G>T (p.Val1209Leu)
c.3427G>T (p.Val1143Leu)
c.2716G>T (p.Val906Leu)
 gnomAD v4
Xg.153954774C>GCA415122590HCFC1c.3625G>C (p.Val1209Leu)
c.3427G>C (p.Val1143Leu)
c.2716G>C (p.Val906Leu)
Xg.153954774C>TCA415122601HCFC1c.3625G>A (p.Val1209Met)
c.3427G>A (p.Val1143Met)
c.2716G>A (p.Val906Met)
Xg.153954775A>CCA415122605HCFC1c.3624T>G (p.Phe1208Leu)
c.3426T>G (p.Phe1142Leu)
c.2715T>G (p.Phe905Leu)
Xg.153954775A>GCA519701947HCFC1c.3624T>C (p.Phe1208=)
c.3426T>C (p.Phe1142=)
c.2715T>C (p.Phe905=)
 gnomAD v4
Xg.153954775A>TCA415122607HCFC1c.3624T>A (p.Phe1208Leu)
c.3426T>A (p.Phe1142Leu)
c.2715T>A (p.Phe905Leu)
Xg.153954776A>CCA415122617HCFC1c.3623T>G (p.Phe1208Cys)
c.3425T>G (p.Phe1142Cys)
c.2714T>G (p.Phe905Cys)
Xg.153954776A>GCA415122610HCFC1c.3623T>C (p.Phe1208Ser)
c.3425T>C (p.Phe1142Ser)
c.2714T>C (p.Phe905Ser)
Xg.153954776A>TCA415122613HCFC1c.3623T>A (p.Phe1208Tyr)
c.3425T>A (p.Phe1142Tyr)
c.2714T>A (p.Phe905Tyr)
Xg.153954777A>CCA415122622HCFC1c.3622T>G (p.Phe1208Val)
c.3424T>G (p.Phe1142Val)
c.2713T>G (p.Phe905Val)
Xg.153954777A>GCA415122625HCFC1c.3622T>C (p.Phe1208Leu)
c.3424T>C (p.Phe1142Leu)
c.2713T>C (p.Phe905Leu)
Xg.153954777A>TCA415122627HCFC1c.3622T>A (p.Phe1208Ile)
c.3424T>A (p.Phe1142Ile)
c.2713T>A (p.Phe905Ile)
Xg.153954778A=CA2466540272HCFC1c.3621T= (p.Ala1207=)
c.3423T= (p.Ala1141=)
c.2712T= (p.Ala904=)
Xg.153954778A>CCA519701948HCFC1c.3621T>G (p.Ala1207=)
c.3423T>G (p.Ala1141=)
c.2712T>G (p.Ala904=)
Xg.153954778A>GCA519701949HCFC1c.3621T>C (p.Ala1207=)
c.3423T>C (p.Ala1141=)
c.2712T>C (p.Ala904=)
Xg.153954778A>TCA519701950HCFC1c.3621T>A (p.Ala1207=)
c.3423T>A (p.Ala1141=)
c.2712T>A (p.Ala904=)
 dbSNP
Xg.153954779G>ACA415122629HCFC1c.3620C>T (p.Ala1207Val)
c.3422C>T (p.Ala1141Val)
c.2711C>T (p.Ala904Val)
 dbSNP gnomAD v3 gnomAD v4
Xg.153954779G>CCA415122632HCFC1c.3620C>G (p.Ala1207Gly)
c.3422C>G (p.Ala1141Gly)
c.2711C>G (p.Ala904Gly)
Xg.153954779G=CA2466540273HCFC1c.3620C= (p.Ala1207=)
c.3422C= (p.Ala1141=)
c.2711C= (p.Ala904=)
Xg.153954779G>TCA415122635HCFC1c.3620C>A (p.Ala1207Asp)
c.3422C>A (p.Ala1141Asp)
c.2711C>A (p.Ala904Asp)
 gnomAD v4
Xg.153954780C>ACA415122637HCFC1c.3619G>T (p.Ala1207Ser)
c.3421G>T (p.Ala1141Ser)
c.2710G>T (p.Ala904Ser)
 gnomAD v4
Xg.153954780C=CA2466540274HCFC1c.3619G= (p.Ala1207=)
c.3421G= (p.Ala1141=)
c.2710G= (p.Ala904=)
Xg.153954780C>GCA415122638HCFC1c.3619G>C (p.Ala1207Pro)
c.3421G>C (p.Ala1141Pro)
c.2710G>C (p.Ala904Pro)
Xg.153954780C>TCA415122640HCFC1c.3619G>A (p.Ala1207Thr)
c.3421G>A (p.Ala1141Thr)
c.2710G>A (p.Ala904Thr)
 dbSNP gnomAD v3 gnomAD v4
Xg.153954781A=CA2466540275HCFC1c.3618T= (p.Pro1206=)
c.3420T= (p.Pro1140=)
c.2709T= (p.Pro903=)
Xg.153954781A>CCA519701951HCFC1c.3618T>G (p.Pro1206=)
c.3420T>G (p.Pro1140=)
c.2709T>G (p.Pro903=)
Xg.153954781A>GCA519701953HCFC1c.3618T>C (p.Pro1206=)
c.3420T>C (p.Pro1140=)
c.2709T>C (p.Pro903=)
Xg.153954781A>TCA519701952HCFC1c.3618T>A (p.Pro1206=)
c.3420T>A (p.Pro1140=)
c.2709T>A (p.Pro903=)
 dbSNP
Xg.153954782G>ACA415122645HCFC1c.3617C>T (p.Pro1206Leu)
c.3419C>T (p.Pro1140Leu)
c.2708C>T (p.Pro903Leu)
Xg.153954782G>CCA415122647HCFC1c.3617C>G (p.Pro1206Arg)
c.3419C>G (p.Pro1140Arg)
c.2708C>G (p.Pro903Arg)
Xg.153954782G>TCA415122649HCFC1c.3617C>A (p.Pro1206His)
c.3419C>A (p.Pro1140His)
c.2708C>A (p.Pro903His)
 gnomAD v4
Xg.153954783G>ACA415122654HCFC1c.3616C>T (p.Pro1206Ser)
c.3418C>T (p.Pro1140Ser)
c.2707C>T (p.Pro903Ser)
Xg.153954783G>CCA415122659HCFC1c.3616C>G (p.Pro1206Ala)
c.3418C>G (p.Pro1140Ala)
c.2707C>G (p.Pro903Ala)
Xg.153954783G=CA2466540276HCFC1c.3616C= (p.Pro1206=)
c.3418C= (p.Pro1140=)
c.2707C= (p.Pro903=)
Xg.153954783G>TCA415122658HCFC1c.3616C>A (p.Pro1206Thr)
c.3418C>A (p.Pro1140Thr)
c.2707C>A (p.Pro903Thr)
 dbSNP gnomAD v2 gnomAD v4
Xg.153954784G>ACA10557162HCFC1c.3615C>T (p.Ser1205=)
c.3417C>T (p.Ser1139=)
c.2706C>T (p.Ser902=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954784G>CCA415122666HCFC1c.3615C>G (p.Ser1205Arg)
c.3417C>G (p.Ser1139Arg)
c.2706C>G (p.Ser902Arg)
Xg.153954784G=CA2466540277HCFC1c.3615C= (p.Ser1205=)
c.3417C= (p.Ser1139=)
c.2706C= (p.Ser902=)
Xg.153954784G>TCA415122664HCFC1c.3615C>A (p.Ser1205Arg)
c.3417C>A (p.Ser1139Arg)
c.2706C>A (p.Ser902Arg)
 gnomAD v4
Xg.153954785C>ACA415122670HCFC1c.3614G>T (p.Ser1205Ile)
c.3416G>T (p.Ser1139Ile)
c.2705G>T (p.Ser902Ile)
Xg.153954785C>GCA415122677HCFC1c.3614G>C (p.Ser1205Thr)
c.3416G>C (p.Ser1139Thr)
c.2705G>C (p.Ser902Thr)
Xg.153954785C>TCA415122672HCFC1c.3614G>A (p.Ser1205Asn)
c.3416G>A (p.Ser1139Asn)
c.2705G>A (p.Ser902Asn)
Xg.153954786T>ACA415122681HCFC1c.3613A>T (p.Ser1205Cys)
c.3415A>T (p.Ser1139Cys)
c.2704A>T (p.Ser902Cys)
Xg.153954786T>CCA415122690HCFC1c.3613A>G (p.Ser1205Gly)
c.3415A>G (p.Ser1139Gly)
c.2704A>G (p.Ser902Gly)
Xg.153954786T>GCA415122684HCFC1c.3613A>C (p.Ser1205Arg)
c.3415A>C (p.Ser1139Arg)
c.2704A>C (p.Ser902Arg)
Xg.153954787G>ACA519701954HCFC1c.3612C>T (p.Arg1204=)
c.3414C>T (p.Arg1138=)
c.2703C>T (p.Arg901=)
 dbSNP gnomAD v4
Xg.153954787G>CCA519701955HCFC1c.3612C>G (p.Arg1204=)
c.3414C>G (p.Arg1138=)
c.2703C>G (p.Arg901=)
Xg.153954787G=CA2466540278HCFC1c.3612C= (p.Arg1204=)
c.3414C= (p.Arg1138=)
c.2703C= (p.Arg901=)
Xg.153954787G>TCA519701956HCFC1c.3612C>A (p.Arg1204=)
c.3414C>A (p.Arg1138=)
c.2703C>A (p.Arg901=)
 gnomAD v4
Xg.153954788C>ACA415122693HCFC1c.3611G>T (p.Arg1204Leu)
c.3413G>T (p.Arg1138Leu)
c.2702G>T (p.Arg901Leu)
 gnomAD v4
Xg.153954788C=CA2466540279HCFC1c.3611G= (p.Arg1204=)
c.3413G= (p.Arg1138=)
c.2702G= (p.Arg901=)
Xg.153954788C>GCA415122703HCFC1c.3611G>C (p.Arg1204Pro)
c.3413G>C (p.Arg1138Pro)
c.2702G>C (p.Arg901Pro)
Xg.153954788C>TCA10557163HCFC1c.3611G>A (p.Arg1204His)
c.3413G>A (p.Arg1138His)
c.2702G>A (p.Arg901His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954789G>ACA10557164HCFC1c.3610C>T (p.Arg1204Cys)
c.3412C>T (p.Arg1138Cys)
c.2701C>T (p.Arg901Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954789G>CCA415122715HCFC1c.3610C>G (p.Arg1204Gly)
c.3412C>G (p.Arg1138Gly)
c.2701C>G (p.Arg901Gly)
Xg.153954789G=CA2466540280HCFC1c.3610C= (p.Arg1204=)
c.3412C= (p.Arg1138=)
c.2701C= (p.Arg901=)
Xg.153954789G>TCA415122720HCFC1c.3610C>A (p.Arg1204Ser)
c.3412C>A (p.Arg1138Ser)
c.2701C>A (p.Arg901Ser)
 dbSNP gnomAD v2 gnomAD v4
Xg.153954790G>ACA519701959HCFC1c.3609C>T (p.Gly1203=)
c.3411C>T (p.Gly1137=)
c.2700C>T (p.Gly900=)
 gnomAD v4
Xg.153954790G>CCA519701958HCFC1c.3609C>G (p.Gly1203=)
c.3411C>G (p.Gly1137=)
c.2700C>G (p.Gly900=)
Xg.153954790G>TCA519701957HCFC1c.3609C>A (p.Gly1203=)
c.3411C>A (p.Gly1137=)
c.2700C>A (p.Gly900=)
Xg.153954790_153954791insGCCA2573105952HCFC1c.3608_3609insGC (p.Arg1204ProfsTer12)
c.3410_3411insGC (p.Arg1138ProfsTer12)
c.2699_2700insGC (p.Arg901ProfsTer12)
Xg.153954791C>ACA415122722HCFC1c.3608G>T (p.Gly1203Val)
c.3410G>T (p.Gly1137Val)
c.2699G>T (p.Gly900Val)
Xg.153954791C=CA2466540281HCFC1c.3608G= (p.Gly1203=)
c.3410G= (p.Gly1137=)
c.2699G= (p.Gly900=)
Xg.153954791C>GCA415122725HCFC1c.3608G>C (p.Gly1203Ala)
c.3410G>C (p.Gly1137Ala)
c.2699G>C (p.Gly900Ala)
Xg.153954791C>TCA415122729HCFC1c.3608G>A (p.Gly1203Asp)
c.3410G>A (p.Gly1137Asp)
c.2699G>A (p.Gly900Asp)
 dbSNP gnomAD v2 gnomAD v4
Xg.153954795delCA2579735263HCFC1c.3608del (p.Gly1203AlafsTer12)
c.3410del (p.Gly1137AlafsTer12)
c.2699del (p.Gly900AlafsTer12)
 gnomAD v4
Xg.153954792C>ACA415122732HCFC1c.3607G>T (p.Gly1203Cys)
c.3409G>T (p.Gly1137Cys)
c.2698G>T (p.Gly900Cys)
 gnomAD v4
Xg.153954792C>GCA415122733HCFC1c.3607G>C (p.Gly1203Arg)
c.3409G>C (p.Gly1137Arg)
c.2698G>C (p.Gly900Arg)
Xg.153954792C>TCA415122735HCFC1c.3607G>A (p.Gly1203Ser)
c.3409G>A (p.Gly1137Ser)
c.2698G>A (p.Gly900Ser)
 gnomAD v4
Xg.153954793C>ACA519701960HCFC1c.3606G>T (p.Gly1202=)
c.3408G>T (p.Gly1136=)
c.2697G>T (p.Gly899=)
Xg.153954793C=CA2466540282HCFC1c.3606G= (p.Gly1202=)
c.3408G= (p.Gly1136=)
c.2697G= (p.Gly899=)
Xg.153954793C>GCA519701961HCFC1c.3606G>C (p.Gly1202=)
c.3408G>C (p.Gly1136=)
c.2697G>C (p.Gly899=)
Xg.153954793C>TCA519701962HCFC1c.3606G>A (p.Gly1202=)
c.3408G>A (p.Gly1136=)
c.2697G>A (p.Gly899=)
 dbSNP gnomAD v3 gnomAD v4
Xg.153954794C>ACA415122737HCFC1c.3605G>T (p.Gly1202Val)
c.3407G>T (p.Gly1136Val)
c.2696G>T (p.Gly899Val)
Xg.153954794C>GCA415122738HCFC1c.3605G>C (p.Gly1202Ala)
c.3407G>C (p.Gly1136Ala)
c.2696G>C (p.Gly899Ala)
Xg.153954794C>TCA415122740HCFC1c.3605G>A (p.Gly1202Glu)
c.3407G>A (p.Gly1136Glu)
c.2696G>A (p.Gly899Glu)
Xg.153954795C>ACA415122751HCFC1c.3604G>T (p.Gly1202Trp)
c.3406G>T (p.Gly1136Trp)
c.2695G>T (p.Gly899Trp)
 gnomAD v4
Xg.153954795C=CA2466540283HCFC1c.3604G= (p.Gly1202=)
c.3406G= (p.Gly1136=)
c.2695G= (p.Gly899=)
Xg.153954795C>GCA415122750HCFC1c.3604G>C (p.Gly1202Arg)
c.3406G>C (p.Gly1136Arg)
c.2695G>C (p.Gly899Arg)
 gnomAD v4
Xg.153954795C>TCA415122743HCFC1c.3604G>A (p.Gly1202Arg)
c.3406G>A (p.Gly1136Arg)
c.2695G>A (p.Gly899Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.153954796G>ACA10557166HCFC1c.3603C>T (p.Pro1201=)
c.3405C>T (p.Pro1135=)
c.2694C>T (p.Pro898=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954796G>CCA519701963HCFC1c.3603C>G (p.Pro1201=)
c.3405C>G (p.Pro1135=)
c.2694C>G (p.Pro898=)
 dbSNP
Xg.153954796G=CA2466540284HCFC1c.3603C= (p.Pro1201=)
c.3405C= (p.Pro1135=)
c.2694C= (p.Pro898=)
Xg.153954796G>TCA10557165HCFC1c.3603C>A (p.Pro1201=)
c.3405C>A (p.Pro1135=)
c.2694C>A (p.Pro898=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954797G>ACA415122757HCFC1c.3602C>T (p.Pro1201Leu)
c.3404C>T (p.Pro1135Leu)
c.2693C>T (p.Pro898Leu)
 gnomAD v4
Xg.153954797G>CCA415122758HCFC1c.3602C>G (p.Pro1201Arg)
c.3404C>G (p.Pro1135Arg)
c.2693C>G (p.Pro898Arg)
 ClinVar gnomAD v4
Xg.153954797G>TCA415122760HCFC1c.3602C>A (p.Pro1201His)
c.3404C>A (p.Pro1135His)
c.2693C>A (p.Pro898His)
 gnomAD v4
Xg.153954798G>ACA415122762HCFC1c.3601C>T (p.Pro1201Ser)
c.3403C>T (p.Pro1135Ser)
c.2692C>T (p.Pro898Ser)
 dbSNP gnomAD v2 gnomAD v4
Xg.153954798G>CCA415122763HCFC1c.3601C>G (p.Pro1201Ala)
c.3403C>G (p.Pro1135Ala)
c.2692C>G (p.Pro898Ala)
Xg.153954798G=CA2466540285HCFC1c.3601C= (p.Pro1201=)
c.3403C= (p.Pro1135=)
c.2692C= (p.Pro898=)
Xg.153954798G>TCA415122766HCFC1c.3601C>A (p.Pro1201Thr)
c.3403C>A (p.Pro1135Thr)
c.2692C>A (p.Pro898Thr)
 gnomAD v4
Xg.153954799C>ACA415122768HCFC1c.3600G>T (p.Glu1200Asp)
c.3402G>T (p.Glu1134Asp)
c.2691G>T (p.Glu897Asp)
 gnomAD v4
Xg.153954799C>GCA415122771HCFC1c.3600G>C (p.Glu1200Asp)
c.3402G>C (p.Glu1134Asp)
c.2691G>C (p.Glu897Asp)
Xg.153954799C>TCA519701964HCFC1c.3600G>A (p.Glu1200=)
c.3402G>A (p.Glu1134=)
c.2691G>A (p.Glu897=)
 gnomAD v4
Xg.153954800T>ACA415122774HCFC1c.3599A>T (p.Glu1200Val)
c.3401A>T (p.Glu1134Val)
c.2690A>T (p.Glu897Val)
Xg.153954800T>CCA415122776HCFC1c.3599A>G (p.Glu1200Gly)
c.3401A>G (p.Glu1134Gly)
c.2690A>G (p.Glu897Gly)
Xg.153954800T>GCA415122779HCFC1c.3599A>C (p.Glu1200Ala)
c.3401A>C (p.Glu1134Ala)
c.2690A>C (p.Glu897Ala)
Xg.153954801C>ACA415122789HCFC1c.3598G>T (p.Glu1200Ter)
c.3400G>T (p.Glu1134Ter)
c.2689G>T (p.Glu897Ter)
 gnomAD v4
Xg.153954801C>GCA415122791HCFC1c.3598G>C (p.Glu1200Gln)
c.3400G>C (p.Glu1134Gln)
c.2689G>C (p.Glu897Gln)
Xg.153954801C>TCA415122782HCFC1c.3598G>A (p.Glu1200Lys)
c.3400G>A (p.Glu1134Lys)
c.2689G>A (p.Glu897Lys)
Xg.153954803dupCA2580611108HCFC1c.3598dup (p.Glu1200GlyfsTer27)
c.3400dup (p.Glu1134GlyfsTer27)
c.2689dup (p.Glu897GlyfsTer27)
Xg.153954802C>ACA519701967HCFC1c.3597G>T (p.Arg1199=)
c.3399G>T (p.Arg1133=)
c.2688G>T (p.Arg896=)
Xg.153954802C>GCA519701968HCFC1c.3597G>C (p.Arg1199=)
c.3399G>C (p.Arg1133=)
c.2688G>C (p.Arg896=)
Xg.153954802C>TCA519701970HCFC1c.3597G>A (p.Arg1199=)
c.3399G>A (p.Arg1133=)
c.2688G>A (p.Arg896=)
 gnomAD v4
Xg.153954803C>ACA415122794HCFC1c.3596G>T (p.Arg1199Leu)
c.3398G>T (p.Arg1133Leu)
c.2687G>T (p.Arg896Leu)
 gnomAD v4
Xg.153954803C=CA2466540286HCFC1c.3596G= (p.Arg1199=)
c.3398G= (p.Arg1133=)
c.2687G= (p.Arg896=)
Xg.153954803C>GCA415122796HCFC1c.3596G>C (p.Arg1199Pro)
c.3398G>C (p.Arg1133Pro)
c.2687G>C (p.Arg896Pro)
 gnomAD v4
Xg.153954803C>TCA415122800HCFC1c.3596G>A (p.Arg1199Gln)
c.3398G>A (p.Arg1133Gln)
c.2687G>A (p.Arg896Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.153954804G>ACA415122802HCFC1c.3595C>T (p.Arg1199Trp)
c.3397C>T (p.Arg1133Trp)
c.2686C>T (p.Arg896Trp)
 dbSNP gnomAD v4
Xg.153954804G>CCA415122804HCFC1c.3595C>G (p.Arg1199Gly)
c.3397C>G (p.Arg1133Gly)
c.2686C>G (p.Arg896Gly)
Xg.153954804G=CA2466540287HCFC1c.3595C= (p.Arg1199=)
c.3397C= (p.Arg1133=)
c.2686C= (p.Arg896=)
Xg.153954804G>TCA519701971HCFC1c.3595C>A (p.Arg1199=)
c.3397C>A (p.Arg1133=)
c.2686C>A (p.Arg896=)
 gnomAD v4
Xg.153954805T>ACA519701972HCFC1c.3594A>T (p.Ala1198=)
c.3396A>T (p.Ala1132=)
c.2685A>T (p.Ala895=)
Xg.153954805T>CCA519701973HCFC1c.3594A>G (p.Ala1198=)
c.3396A>G (p.Ala1132=)
c.2685A>G (p.Ala895=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.153954805T>GCA519701974HCFC1c.3594A>C (p.Ala1198=)
c.3396A>C (p.Ala1132=)
c.2685A>C (p.Ala895=)
Xg.153954805T=CA2466540288HCFC1c.3594A= (p.Ala1198=)
c.3396A= (p.Ala1132=)
c.2685A= (p.Ala895=)
Xg.153954806G>ACA415122806HCFC1c.3593C>T (p.Ala1198Val)
c.3395C>T (p.Ala1132Val)
c.2684C>T (p.Ala895Val)
Xg.153954806G>CCA415122807HCFC1c.3593C>G (p.Ala1198Gly)
c.3395C>G (p.Ala1132Gly)
c.2684C>G (p.Ala895Gly)
Xg.153954806G>TCA415122810HCFC1c.3593C>A (p.Ala1198Glu)
c.3395C>A (p.Ala1132Glu)
c.2684C>A (p.Ala895Glu)
 gnomAD v4
Xg.153954807C>ACA415122813HCFC1c.3592G>T (p.Ala1198Ser)
c.3394G>T (p.Ala1132Ser)
c.2683G>T (p.Ala895Ser)
 gnomAD v4
Xg.153954807C>GCA415122816HCFC1c.3592G>C (p.Ala1198Pro)
c.3394G>C (p.Ala1132Pro)
c.2683G>C (p.Ala895Pro)
Xg.153954807C>TCA415122819HCFC1c.3592G>A (p.Ala1198Thr)
c.3394G>A (p.Ala1132Thr)
c.2683G>A (p.Ala895Thr)
 gnomAD v4
Xg.153954808delCA2579735264HCFC1c.3592del (p.Ala1198HisfsTer17)
c.3394del (p.Ala1132HisfsTer17)
c.2683del (p.Ala895HisfsTer17)
Xg.153954808C>ACA415122831HCFC1c.3591G>T (p.Met1197Ile)
c.3393G>T (p.Met1131Ile)
c.2682G>T (p.Met894Ile)
 gnomAD v4
Xg.153954808C>GCA415122829HCFC1c.3591G>C (p.Met1197Ile)
c.3393G>C (p.Met1131Ile)
c.2682G>C (p.Met894Ile)
Xg.153954808C>TCA415122824HCFC1c.3591G>A (p.Met1197Ile)
c.3393G>A (p.Met1131Ile)
c.2682G>A (p.Met894Ile)
Xg.153954809A>CCA415122840HCFC1c.3590T>G (p.Met1197Arg)
c.3392T>G (p.Met1131Arg)
c.2681T>G (p.Met894Arg)
Xg.153954809A>GCA415122843HCFC1c.3590T>C (p.Met1197Thr)
c.3392T>C (p.Met1131Thr)
c.2681T>C (p.Met894Thr)
 gnomAD v4
Xg.153954809A>TCA415122848HCFC1c.3590T>A (p.Met1197Lys)
c.3392T>A (p.Met1131Lys)
c.2681T>A (p.Met894Lys)
Xg.153954810T>ACA415122851HCFC1c.3589A>T (p.Met1197Leu)
c.3391A>T (p.Met1131Leu)
c.2680A>T (p.Met894Leu)
Xg.153954810T>CCA415122859HCFC1c.3589A>G (p.Met1197Val)
c.3391A>G (p.Met1131Val)
c.2680A>G (p.Met894Val)
 gnomAD v4
Xg.153954810T>GCA415122864HCFC1c.3589A>C (p.Met1197Leu)
c.3391A>C (p.Met1131Leu)
c.2680A>C (p.Met894Leu)
Xg.153954811G>ACA519701977HCFC1c.3588C>T (p.Ser1196=)
c.3390C>T (p.Ser1130=)
c.2679C>T (p.Ser893=)
 dbSNP gnomAD v2 gnomAD v4
Xg.153954811G>CCA415122867HCFC1c.3588C>G (p.Ser1196Arg)
c.3390C>G (p.Ser1130Arg)
c.2679C>G (p.Ser893Arg)
Xg.153954811G=CA2466540289HCFC1c.3588C= (p.Ser1196=)
c.3390C= (p.Ser1130=)
c.2679C= (p.Ser893=)
Xg.153954811G>TCA415122869HCFC1c.3588C>A (p.Ser1196Arg)
c.3390C>A (p.Ser1130Arg)
c.2679C>A (p.Ser893Arg)
 gnomAD v4
Xg.153954812C>ACA415122874HCFC1c.3587G>T (p.Ser1196Ile)
c.3389G>T (p.Ser1130Ile)
c.2678G>T (p.Ser893Ile)
 gnomAD v4
Xg.153954812C>GCA415122877HCFC1c.3587G>C (p.Ser1196Thr)
c.3389G>C (p.Ser1130Thr)
c.2678G>C (p.Ser893Thr)
Xg.153954812C>TCA415122881HCFC1c.3587G>A (p.Ser1196Asn)
c.3389G>A (p.Ser1130Asn)
c.2678G>A (p.Ser893Asn)
 gnomAD v4 COSMIC COSMIC
Xg.153954813T>ACA415122883HCFC1c.3586A>T (p.Ser1196Cys)
c.3388A>T (p.Ser1130Cys)
c.2677A>T (p.Ser893Cys)
 gnomAD v4
Xg.153954813T>CCA415122891HCFC1c.3586A>G (p.Ser1196Gly)
c.3388A>G (p.Ser1130Gly)
c.2677A>G (p.Ser893Gly)
 dbSNP
Xg.153954813T>GCA415122888HCFC1c.3586A>C (p.Ser1196Arg)
c.3388A>C (p.Ser1130Arg)
c.2677A>C (p.Ser893Arg)
Xg.153954813T=CA2466540290HCFC1c.3586A= (p.Ser1196=)
c.3388A= (p.Ser1130=)
c.2677A= (p.Ser893=)
Xg.153954814C>ACA519701978HCFC1c.3585G>T (p.Pro1195=)
c.3387G>T (p.Pro1129=)
c.2676G>T (p.Pro892=)
 gnomAD v4
Xg.153954814C=CA2466540291HCFC1c.3585G= (p.Pro1195=)
c.3387G= (p.Pro1129=)
c.2676G= (p.Pro892=)
Xg.153954814C>GCA519701979HCFC1c.3585G>C (p.Pro1195=)
c.3387G>C (p.Pro1129=)
c.2676G>C (p.Pro892=)
 gnomAD v4
Xg.153954814C>TCA519701980HCFC1c.3585G>A (p.Pro1195=)
c.3387G>A (p.Pro1129=)
c.2676G>A (p.Pro892=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954815G>ACA415122894HCFC1c.3584C>T (p.Pro1195Leu)
c.3386C>T (p.Pro1129Leu)
c.2675C>T (p.Pro892Leu)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
Xg.153954815G>CCA415122901HCFC1c.3584C>G (p.Pro1195Arg)
c.3386C>G (p.Pro1129Arg)
c.2675C>G (p.Pro892Arg)
Xg.153954815G=CA2466540292HCFC1c.3584C= (p.Pro1195=)
c.3386C= (p.Pro1129=)
c.2675C= (p.Pro892=)
Xg.153954815G>TCA415122898HCFC1c.3584C>A (p.Pro1195Gln)
c.3386C>A (p.Pro1129Gln)
c.2675C>A (p.Pro892Gln)
Xg.153954816G>ACA415122904HCFC1c.3583C>T (p.Pro1195Ser)
c.3385C>T (p.Pro1129Ser)
c.2674C>T (p.Pro892Ser)
 gnomAD v4
Xg.153954816G>CCA415122907HCFC1c.3583C>G (p.Pro1195Ala)
c.3385C>G (p.Pro1129Ala)
c.2674C>G (p.Pro892Ala)
Xg.153954816G>TCA415122910HCFC1c.3583C>A (p.Pro1195Thr)
c.3385C>A (p.Pro1129Thr)
c.2674C>A (p.Pro892Thr)
Xg.153954817C>ACA519701984HCFC1c.3582G>T (p.Gly1194=)
c.3384G>T (p.Gly1128=)
c.2673G>T (p.Gly891=)
 gnomAD v4
Xg.153954817C>GCA519701985HCFC1c.3582G>C (p.Gly1194=)
c.3384G>C (p.Gly1128=)
c.2673G>C (p.Gly891=)
 gnomAD v4
Xg.153954817C>TCA519701986HCFC1c.3582G>A (p.Gly1194=)
c.3384G>A (p.Gly1128=)
c.2673G>A (p.Gly891=)
 gnomAD v4
Xg.153954818C>ACA415122912HCFC1c.3581G>T (p.Gly1194Val)
c.3383G>T (p.Gly1128Val)
c.2672G>T (p.Gly891Val)
 gnomAD v4
Xg.153954818C>GCA415122916HCFC1c.3581G>C (p.Gly1194Ala)
c.3383G>C (p.Gly1128Ala)
c.2672G>C (p.Gly891Ala)
Xg.153954818C>TCA415122917HCFC1c.3581G>A (p.Gly1194Glu)
c.3383G>A (p.Gly1128Glu)
c.2672G>A (p.Gly891Glu)
Xg.153954819C>ACA415122918HCFC1c.3580G>T (p.Gly1194Trp)
c.3382G>T (p.Gly1128Trp)
c.2671G>T (p.Gly891Trp)
Xg.153954819C>GCA415122920HCFC1c.3580G>C (p.Gly1194Arg)
c.3382G>C (p.Gly1128Arg)
c.2671G>C (p.Gly891Arg)
Xg.153954819C>TCA415122921HCFC1c.3580G>A (p.Gly1194Arg)
c.3382G>A (p.Gly1128Arg)
c.2671G>A (p.Gly891Arg)
 gnomAD v4
Xg.153954820A=CA2466540293HCFC1c.3579T= (p.Leu1193=)
c.3381T= (p.Leu1127=)
c.2670T= (p.Leu890=)
Xg.153954820A>CCA519701988HCFC1c.3579T>G (p.Leu1193=)
c.3381T>G (p.Leu1127=)
c.2670T>G (p.Leu890=)
Xg.153954820A>GCA519701989HCFC1c.3579T>C (p.Leu1193=)
c.3381T>C (p.Leu1127=)
c.2670T>C (p.Leu890=)
 ClinVar dbSNP
Xg.153954820A>TCA519701991HCFC1c.3579T>A (p.Leu1193=)
c.3381T>A (p.Leu1127=)
c.2670T>A (p.Leu890=)
Xg.153954821A>CCA415122929HCFC1c.3578T>G (p.Leu1193Arg)
c.3380T>G (p.Leu1127Arg)
c.2669T>G (p.Leu890Arg)
Xg.153954821A>GCA415122924HCFC1c.3578T>C (p.Leu1193Pro)
c.3380T>C (p.Leu1127Pro)
c.2669T>C (p.Leu890Pro)
 gnomAD v4
Xg.153954821A>TCA415122927HCFC1c.3578T>A (p.Leu1193His)
c.3380T>A (p.Leu1127His)
c.2669T>A (p.Leu890His)
Xg.153954822G>ACA415122934HCFC1c.3577C>T (p.Leu1193Phe)
c.3379C>T (p.Leu1127Phe)
c.2668C>T (p.Leu890Phe)
 COSMIC COSMIC
Xg.153954822G>CCA415122936HCFC1c.3577C>G (p.Leu1193Val)
c.3379C>G (p.Leu1127Val)
c.2668C>G (p.Leu890Val)
Xg.153954822G>TCA415122938HCFC1c.3577C>A (p.Leu1193Ile)
c.3379C>A (p.Leu1127Ile)
c.2668C>A (p.Leu890Ile)
 gnomAD v4
Xg.153954823G>ACA519701995HCFC1c.3576C>T (p.Leu1192=)
c.3378C>T (p.Leu1126=)
c.2667C>T (p.Leu889=)
Xg.153954823G>CCA519701997HCFC1c.3576C>G (p.Leu1192=)
c.3378C>G (p.Leu1126=)
c.2667C>G (p.Leu889=)
Xg.153954823G>TCA519701998HCFC1c.3576C>A (p.Leu1192=)
c.3378C>A (p.Leu1126=)
c.2667C>A (p.Leu889=)
 gnomAD v4
Xg.153954824A=CA2466540294HCFC1c.3575T= (p.Leu1192=)
c.3377T= (p.Leu1126=)
c.2666T= (p.Leu889=)
Xg.153954824A>CCA415122942HCFC1c.3575T>G (p.Leu1192Arg)
c.3377T>G (p.Leu1126Arg)
c.2666T>G (p.Leu889Arg)
Xg.153954824A>GCA415122944HCFC1c.3575T>C (p.Leu1192Pro)
c.3377T>C (p.Leu1126Pro)
c.2666T>C (p.Leu889Pro)
 dbSNP gnomAD v4
Xg.153954824A>TCA415122946HCFC1c.3575T>A (p.Leu1192His)
c.3377T>A (p.Leu1126His)
c.2666T>A (p.Leu889His)
Xg.153954825G>ACA415122949HCFC1c.3574C>T (p.Leu1192Phe)
c.3376C>T (p.Leu1126Phe)
c.2665C>T (p.Leu889Phe)
 gnomAD v4
Xg.153954825G>CCA415122953HCFC1c.3574C>G (p.Leu1192Val)
c.3376C>G (p.Leu1126Val)
c.2665C>G (p.Leu889Val)
Xg.153954825G>TCA415122956HCFC1c.3574C>A (p.Leu1192Ile)
c.3376C>A (p.Leu1126Ile)
c.2665C>A (p.Leu889Ile)
 gnomAD v4
Xg.153954826T>ACA519702000HCFC1c.3573A>T (p.Pro1191=)
c.3375A>T (p.Pro1125=)
c.2664A>T (p.Pro888=)
Xg.153954826T>CCA519702002HCFC1c.3573A>G (p.Pro1191=)
c.3375A>G (p.Pro1125=)
c.2664A>G (p.Pro888=)
Xg.153954826T>GCA519702003HCFC1c.3573A>C (p.Pro1191=)
c.3375A>C (p.Pro1125=)
c.2664A>C (p.Pro888=)
Xg.153954826_153954846delCA2739239539HCFC1c.3553_3573del (p.Ala1185_Pro1191del)
c.3355_3375del (p.Ala1119_Pro1125del)
c.2644_2664del (p.Ala882_Pro888del)
 dbSNP
Xg.153954827G>ACA10557167HCFC1c.3572C>T (p.Pro1191Leu)
c.3374C>T (p.Pro1125Leu)
c.2663C>T (p.Pro888Leu)
 dbSNP ExAC gnomAD v4
Xg.153954827G>CCA415122964HCFC1c.3572C>G (p.Pro1191Arg)
c.3374C>G (p.Pro1125Arg)
c.2663C>G (p.Pro888Arg)
 dbSNP
Xg.153954827G=CA2466540295HCFC1c.3572C= (p.Pro1191=)
c.3374C= (p.Pro1125=)
c.2663C= (p.Pro888=)
Xg.153954827G>TCA415122960HCFC1c.3572C>A (p.Pro1191Gln)
c.3374C>A (p.Pro1125Gln)
c.2663C>A (p.Pro888Gln)
 gnomAD v4
Xg.153954828G>ACA415122967HCFC1c.3571C>T (p.Pro1191Ser)
c.3373C>T (p.Pro1125Ser)
c.2662C>T (p.Pro888Ser)
 dbSNP gnomAD v3 gnomAD v4
Xg.153954828G>CCA415122970HCFC1c.3571C>G (p.Pro1191Ala)
c.3373C>G (p.Pro1125Ala)
c.2662C>G (p.Pro888Ala)
Xg.153954828G=CA2466540296HCFC1c.3571C= (p.Pro1191=)
c.3373C= (p.Pro1125=)
c.2662C= (p.Pro888=)
Xg.153954828G>TCA415122973HCFC1c.3571C>A (p.Pro1191Thr)
c.3373C>A (p.Pro1125Thr)
c.2662C>A (p.Pro888Thr)
Xg.153954829G>ACA519702010HCFC1c.3570C>T (p.Gly1190=)
c.3372C>T (p.Gly1124=)
c.2661C>T (p.Gly887=)
 gnomAD v4
Xg.153954829G>CCA519702011HCFC1c.3570C>G (p.Gly1190=)
c.3372C>G (p.Gly1124=)
c.2661C>G (p.Gly887=)
Xg.153954829G>TCA519702012HCFC1c.3570C>A (p.Gly1190=)
c.3372C>A (p.Gly1124=)
c.2661C>A (p.Gly887=)
 gnomAD v4
Xg.153954830C>ACA415122978HCFC1c.3569G>T (p.Gly1190Val)
c.3371G>T (p.Gly1124Val)
c.2660G>T (p.Gly887Val)
 gnomAD v4
Xg.153954830C>GCA415122981HCFC1c.3569G>C (p.Gly1190Ala)
c.3371G>C (p.Gly1124Ala)
c.2660G>C (p.Gly887Ala)
Xg.153954830C>TCA415122984HCFC1c.3569G>A (p.Gly1190Asp)
c.3371G>A (p.Gly1124Asp)
c.2660G>A (p.Gly887Asp)
 gnomAD v4
Xg.153954831C>ACA415122987HCFC1c.3568G>T (p.Gly1190Cys)
c.3370G>T (p.Gly1124Cys)
c.2659G>T (p.Gly887Cys)
 gnomAD v4
Xg.153954831C=CA2466540297HCFC1c.3568G= (p.Gly1190=)
c.3370G= (p.Gly1124=)
c.2659G= (p.Gly887=)
Xg.153954831C>GCA415122990HCFC1c.3568G>C (p.Gly1190Arg)
c.3370G>C (p.Gly1124Arg)
c.2659G>C (p.Gly887Arg)
Xg.153954831C>TCA153072HCFC1c.3568G>A (p.Gly1190Ser)
c.3370G>A (p.Gly1124Ser)
c.2659G>A (p.Gly887Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954832G>ACA10557168HCFC1c.3567C>T (p.Ala1189=)
c.3369C>T (p.Ala1123=)
c.2658C>T (p.Ala886=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954832G>CCA519702017HCFC1c.3567C>G (p.Ala1189=)
c.3369C>G (p.Ala1123=)
c.2658C>G (p.Ala886=)
Xg.153954832G=CA2466540298HCFC1c.3567C= (p.Ala1189=)
c.3369C= (p.Ala1123=)
c.2658C= (p.Ala886=)
Xg.153954832G>TCA519702018HCFC1c.3567C>A (p.Ala1189=)
c.3369C>A (p.Ala1123=)
c.2658C>A (p.Ala886=)
 gnomAD v4
Xg.153954833G>ACA415123000HCFC1c.3566C>T (p.Ala1189Val)
c.3368C>T (p.Ala1123Val)
c.2657C>T (p.Ala886Val)
 gnomAD v4
Xg.153954833G>CCA415122997HCFC1c.3566C>G (p.Ala1189Gly)
c.3368C>G (p.Ala1123Gly)
c.2657C>G (p.Ala886Gly)
Xg.153954833G>TCA415122995HCFC1c.3566C>A (p.Ala1189Asp)
c.3368C>A (p.Ala1123Asp)
c.2657C>A (p.Ala886Asp)
 gnomAD v4
Xg.153954834C>ACA415123003HCFC1c.3565G>T (p.Ala1189Ser)
c.3367G>T (p.Ala1123Ser)
c.2656G>T (p.Ala886Ser)
 gnomAD v4
Xg.153954834C>GCA415123006HCFC1c.3565G>C (p.Ala1189Pro)
c.3367G>C (p.Ala1123Pro)
c.2656G>C (p.Ala886Pro)
Xg.153954834C>TCA415123007HCFC1c.3565G>A (p.Ala1189Thr)
c.3367G>A (p.Ala1123Thr)
c.2656G>A (p.Ala886Thr)
 gnomAD v4
Xg.153954835C>ACA519702022HCFC1c.3564G>T (p.Ser1188=)
c.3366G>T (p.Ser1122=)
c.2655G>T (p.Ser885=)
 gnomAD v4
Xg.153954835C=CA2466540299HCFC1c.3564G= (p.Ser1188=)
c.3366G= (p.Ser1122=)
c.2655G= (p.Ser885=)
Xg.153954835C>GCA519702024HCFC1c.3564G>C (p.Ser1188=)
c.3366G>C (p.Ser1122=)
c.2655G>C (p.Ser885=)
Xg.153954835C>TCA10557169HCFC1c.3564G>A (p.Ser1188=)
c.3366G>A (p.Ser1122=)
c.2655G>A (p.Ser885=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954836G>ACA10557170HCFC1c.3563C>T (p.Ser1188Leu)
c.3365C>T (p.Ser1122Leu)
c.2654C>T (p.Ser885Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.153954836G>CCA415123016HCFC1c.3563C>G (p.Ser1188Trp)
c.3365C>G (p.Ser1122Trp)
c.2654C>G (p.Ser885Trp)
Xg.153954836G=CA2466540300HCFC1c.3563C= (p.Ser1188=)
c.3365C= (p.Ser1122=)
c.2654C= (p.Ser885=)
Xg.153954836G>TCA415123020HCFC1c.3563C>A (p.Ser1188Ter)
c.3365C>A (p.Ser1122Ter)
c.2654C>A (p.Ser885Ter)
Xg.153954837A>CCA415123023HCFC1c.3562T>G (p.Ser1188Ala)
c.3364T>G (p.Ser1122Ala)
c.2653T>G (p.Ser885Ala)
Xg.153954837A>GCA415123025HCFC1c.3562T>C (p.Ser1188Pro)
c.3364T>C (p.Ser1122Pro)
c.2653T>C (p.Ser885Pro)
Xg.153954837A>TCA415123027HCFC1c.3562T>A (p.Ser1188Thr)
c.3364T>A (p.Ser1122Thr)
c.2653T>A (p.Ser885Thr)
Xg.153954838G>ACA519702027HCFC1c.3561C>T (p.Cys1187=)
c.3363C>T (p.Cys1121=)
c.2652C>T (p.Cys884=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954838G>CCA415123030HCFC1c.3561C>G (p.Cys1187Trp)
c.3363C>G (p.Cys1121Trp)
c.2652C>G (p.Cys884Trp)
 dbSNP
Xg.153954838G=CA2466540301HCFC1c.3561C= (p.Cys1187=)
c.3363C= (p.Cys1121=)
c.2652C= (p.Cys884=)
Xg.153954838G>TCA415123033HCFC1c.3561C>A (p.Cys1187Ter)
c.3363C>A (p.Cys1121Ter)
c.2652C>A (p.Cys884Ter)
 gnomAD v4
Xg.153954839C>ACA415123043HCFC1c.3560G>T (p.Cys1187Phe)
c.3362G>T (p.Cys1121Phe)
c.2651G>T (p.Cys884Phe)
 gnomAD v4
Xg.153954839C>GCA415123039HCFC1c.3560G>C (p.Cys1187Ser)
c.3362G>C (p.Cys1121Ser)
c.2651G>C (p.Cys884Ser)
Xg.153954839C>TCA415123036HCFC1c.3560G>A (p.Cys1187Tyr)
c.3362G>A (p.Cys1121Tyr)
c.2651G>A (p.Cys884Tyr)
 gnomAD v4
Xg.153954840A>CCA415123045HCFC1c.3559T>G (p.Cys1187Gly)
c.3361T>G (p.Cys1121Gly)
c.2650T>G (p.Cys884Gly)
Xg.153954840A>GCA415123050HCFC1c.3559T>C (p.Cys1187Arg)
c.3361T>C (p.Cys1121Arg)
c.2650T>C (p.Cys884Arg)
Xg.153954840A>TCA415123047HCFC1c.3559T>A (p.Cys1187Ser)
c.3361T>A (p.Cys1121Ser)
c.2650T>A (p.Cys884Ser)
Xg.153954841C>ACA519702034HCFC1c.3558G>T (p.Pro1186=)
c.3360G>T (p.Pro1120=)
c.2649G>T (p.Pro883=)
 gnomAD v4
Xg.153954841C=CA2466540302HCFC1c.3558G= (p.Pro1186=)
c.3360G= (p.Pro1120=)
c.2649G= (p.Pro883=)
Xg.153954841C>GCA519702033HCFC1c.3558G>C (p.Pro1186=)
c.3360G>C (p.Pro1120=)
c.2649G>C (p.Pro883=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954841C>TCA10557171HCFC1c.3558G>A (p.Pro1186=)
c.3360G>A (p.Pro1120=)
c.2649G>A (p.Pro883=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153954842G>ACA415123051HCFC1c.3557C>T (p.Pro1186Leu)
c.3359C>T (p.Pro1120Leu)
c.2648C>T (p.Pro883Leu)
 gnomAD v4
Xg.153954842G>CCA415123052HCFC1c.3557C>G (p.Pro1186Arg)
c.3359C>G (p.Pro1120Arg)
c.2648C>G (p.Pro883Arg)
Xg.153954842G>TCA415123054HCFC1c.3557C>A (p.Pro1186Gln)
c.3359C>A (p.Pro1120Gln)
c.2648C>A (p.Pro883Gln)
 gnomAD v4
Xg.153954843G>ACA415123057HCFC1c.3556C>T (p.Pro1186Ser)
c.3358C>T (p.Pro1120Ser)
c.2647C>T (p.Pro883Ser)
 gnomAD v4
Xg.153954843G>CCA415123058HCFC1c.3556C>G (p.Pro1186Ala)
c.3358C>G (p.Pro1120Ala)
c.2647C>G (p.Pro883Ala)
Xg.153954843G>TCA415123060HCFC1c.3556C>A (p.Pro1186Thr)
c.3358C>A (p.Pro1120Thr)
c.2647C>A (p.Pro883Thr)
 gnomAD v4
Xg.153954844G>ACA519702036HCFC1c.3555C>T (p.Ala1185=)
c.3357C>T (p.Ala1119=)
c.2646C>T (p.Ala882=)
Xg.153954844G>CCA519702037HCFC1c.3555C>G (p.Ala1185=)
c.3357C>G (p.Ala1119=)
c.2646C>G (p.Ala882=)
Xg.153954844G>TCA519702038HCFC1c.3555C>A (p.Ala1185=)
c.3357C>A (p.Ala1119=)
c.2646C>A (p.Ala882=)
 gnomAD v4
Xg.153954848_153954856delCA2695088896HCFC1c.3547_3555del (p.Thr1183_Ala1185del)
c.3349_3357del (p.Thr1117_Ala1119del)
c.2638_2646del (p.Thr880_Ala882del)
 gnomAD v4
Xg.153954845G>ACA415123063HCFC1c.3554C>T (p.Ala1185Val)
c.3356C>T (p.Ala1119Val)
c.2645C>T (p.Ala882Val)
 COSMIC COSMIC
Xg.153954845G>CCA415123064HCFC1c.3554C>G (p.Ala1185Gly)
c.3356C>G (p.Ala1119Gly)
c.2645C>G (p.Ala882Gly)
Xg.153954845G>TCA415123067HCFC1c.3554C>A (p.Ala1185Asp)
c.3356C>A (p.Ala1119Asp)
c.2645C>A (p.Ala882Asp)
 gnomAD v4
Xg.153954846C>ACA415123076HCFC1c.3553G>T (p.Ala1185Ser)
c.3355G>T (p.Ala1119Ser)
c.2644G>T (p.Ala882Ser)
 gnomAD v4
Xg.153954846C=CA2466540303HCFC1c.3553G= (p.Ala1185=)
c.3355G= (p.Ala1119=)
c.2644G= (p.Ala882=)
Xg.153954846C>GCA337253652HCFC1c.3553G>C (p.Ala1185Pro)
c.3355G>C (p.Ala1119Pro)
c.2644G>C (p.Ala882Pro)
 dbSNP
Xg.153954846C>TCA415123073HCFC1c.3553G>A (p.Ala1185Thr)
c.3355G>A (p.Ala1119Thr)
c.2644G>A (p.Ala882Thr)
 dbSNP gnomAD v3 gnomAD v4
Xg.153954849delCA2579735265HCFC1c.3553del (p.Ala1185ProfsTer30)
c.3355del (p.Ala1119ProfsTer30)
c.2644del (p.Ala882ProfsTer30)
 gnomAD v4
Xg.153954847C>ACA519702042HCFC1c.3552G>T (p.Gly1184=)
c.3354G>T (p.Gly1118=)
c.2643G>T (p.Gly881=)
Xg.153954847C>GCA519702043HCFC1c.3552G>C (p.Gly1184=)
c.3354G>C (p.Gly1118=)
c.2643G>C (p.Gly881=)
Xg.153954847C>TCA519702044HCFC1c.3552G>A (p.Gly1184=)
c.3354G>A (p.Gly1118=)
c.2643G>A (p.Gly881=)
 gnomAD v4
Xg.153954848C>ACA415123079HCFC1c.3551G>T (p.Gly1184Val)
c.3353G>T (p.Gly1118Val)
c.2642G>T (p.Gly881Val)
Xg.153954848C>GCA415123084HCFC1c.3551G>C (p.Gly1184Ala)
c.3353G>C (p.Gly1118Ala)
c.2642G>C (p.Gly881Ala)
Xg.153954848C>TCA415123091HCFC1c.3551G>A (p.Gly1184Glu)
c.3353G>A (p.Gly1118Glu)
c.2642G>A (p.Gly881Glu)
Xg.153954848_153954851delinsCCGGCA2466540304HCFC1c.3548_3551delinsCCGG (p.Thr1183=)
c.3350_3353delinsCCGG (p.Thr1117=)
c.2639_2642delinsCCGG (p.Thr880=)
Xg.153954849C>ACA415123096HCFC1c.3550G>T (p.Gly1184Trp)
c.3352G>T (p.Gly1118Trp)
c.2641G>T (p.Gly881Trp)
 gnomAD v4
Xg.153954849C=CA2466540305HCFC1c.3550G= (p.Gly1184=)
c.3352G= (p.Gly1118=)
c.2641G= (p.Gly881=)
Xg.153954849C>GCA415123098HCFC1c.3550G>C (p.Gly1184Arg)
c.3352G>C (p.Gly1118Arg)
c.2641G>C (p.Gly881Arg)
Xg.153954849C>TCA222865HCFC1c.3550G>A (p.Gly1184Arg)
c.3352G>A (p.Gly1118Arg)
c.2641G>A (p.Gly881Arg)
 ClinVar dbSNP gnomAD v4
Xg.153954849_153954851delCA645289620HCFC1c.3548_3550del (p.Thr1183_Gly1184delinsArg)
c.3350_3352del (p.Thr1117_Gly1118delinsArg)
c.2639_2641del (p.Thr880_Gly881delinsArg)
 dbSNP gnomAD v2 gnomAD v4
Xg.153954850G>ACA10557172HCFC1c.3549C>T (p.Thr1183=)
c.3351C>T (p.Thr1117=)
c.2640C>T (p.Thr880=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153954850G>CCA519702052HCFC1c.3549C>G (p.Thr1183=)
c.3351C>G (p.Thr1117=)
c.2640C>G (p.Thr880=)
Xg.153954850G=CA2466540306HCFC1c.3549C= (p.Thr1183=)
c.3351C= (p.Thr1117=)
c.2640C= (p.Thr880=)
Xg.153954850G>TCA519702054HCFC1c.3549C>A (p.Thr1183=)
c.3351C>A (p.Thr1117=)
c.2640C>A (p.Thr880=)
 gnomAD v4
Xg.153954851G>ACA415123103HCFC1c.3548C>T (p.Thr1183Ile)
c.3350C>T (p.Thr1117Ile)
c.2639C>T (p.Thr880Ile)
 gnomAD v4
Xg.153954851G>CCA415123104HCFC1c.3548C>G (p.Thr1183Ser)
c.3350C>G (p.Thr1117Ser)
c.2639C>G (p.Thr880Ser)
Xg.153954851G>TCA415123106HCFC1c.3548C>A (p.Thr1183Asn)
c.3350C>A (p.Thr1117Asn)
c.2639C>A (p.Thr880Asn)
Xg.153954852T>ACA415123114HCFC1c.3547A>T (p.Thr1183Ser)
c.3349A>T (p.Thr1117Ser)
c.2638A>T (p.Thr880Ser)
Xg.153954852T>CCA415123112HCFC1c.3547A>G (p.Thr1183Ala)
c.3349A>G (p.Thr1117Ala)
c.2638A>G (p.Thr880Ala)
Xg.153954852T>GCA415123109HCFC1c.3547A>C (p.Thr1183Pro)
c.3349A>C (p.Thr1117Pro)
c.2638A>C (p.Thr880Pro)
Xg.153954853G>ACA519702060HCFC1c.3546C>T (p.Ala1182=)
c.3348C>T (p.Ala1116=)
c.2637C>T (p.Ala879=)
 gnomAD v4
Xg.153954853G>CCA519702061HCFC1c.3546C>G (p.Ala1182=)
c.3348C>G (p.Ala1116=)
c.2637C>G (p.Ala879=)
Xg.153954853G>TCA519702062HCFC1c.3546C>A (p.Ala1182=)
c.3348C>A (p.Ala1116=)
c.2637C>A (p.Ala879=)
 gnomAD v4
Xg.153954854G>ACA415123121HCFC1c.3545C>T (p.Ala1182Val)
c.3347C>T (p.Ala1116Val)
c.2636C>T (p.Ala879Val)
Xg.153954854G>CCA415123116HCFC1c.3545C>G (p.Ala1182Gly)
c.3347C>G (p.Ala1116Gly)
c.2636C>G (p.Ala879Gly)
Xg.153954854G>TCA415123118HCFC1c.3545C>A (p.Ala1182Asp)
c.3347C>A (p.Ala1116Asp)
c.2636C>A (p.Ala879Asp)
 gnomAD v4
Xg.153954855C>ACA415123126HCFC1c.3544G>T (p.Ala1182Ser)
c.3346G>T (p.Ala1116Ser)
c.2635G>T (p.Ala879Ser)
 gnomAD v4
Xg.153954855C=CA2466540307HCFC1c.3544G= (p.Ala1182=)
c.3346G= (p.Ala1116=)
c.2635G= (p.Ala879=)
Xg.153954855C>GCA415123130HCFC1c.3544G>C (p.Ala1182Pro)
c.3346G>C (p.Ala1116Pro)
c.2635G>C (p.Ala879Pro)
Xg.153954855C>TCA415123132HCFC1c.3544G>A (p.Ala1182Thr)
c.3346G>A (p.Ala1116Thr)
c.2635G>A (p.Ala879Thr)
 dbSNP gnomAD v2 gnomAD v4
Xg.153954856C>ACA415123134HCFC1c.3543G>T (p.Met1181Ile)
c.3345G>T (p.Met1115Ile)
c.2634G>T (p.Met878Ile)
Xg.153954856C>GCA415123136HCFC1c.3543G>C (p.Met1181Ile)
c.3345G>C (p.Met1115Ile)
c.2634G>C (p.Met878Ile)
Xg.153954856C>TCA415123137HCFC1c.3543G>A (p.Met1181Ile)
c.3345G>A (p.Met1115Ile)
c.2634G>A (p.Met878Ile)
Xg.153954857A>CCA415123141HCFC1c.3542T>G (p.Met1181Arg)
c.3344T>G (p.Met1115Arg)
c.2633T>G (p.Met878Arg)
Xg.153954857A>GCA415123154HCFC1c.3542T>C (p.Met1181Thr)
c.3344T>C (p.Met1115Thr)
c.2633T>C (p.Met878Thr)
Xg.153954857A>TCA415123157HCFC1c.3542T>A (p.Met1181Lys)
c.3344T>A (p.Met1115Lys)
c.2633T>A (p.Met878Lys)
Xg.153954858T>ACA415123168HCFC1c.3541A>T (p.Met1181Leu)
c.3343A>T (p.Met1115Leu)
c.2632A>T (p.Met878Leu)
Xg.153954858T>CCA415123165HCFC1c.3541A>G (p.Met1181Val)
c.3343A>G (p.Met1115Val)
c.2632A>G (p.Met878Val)
 gnomAD v4
Xg.153954858T>GCA415123162HCFC1c.3541A>C (p.Met1181Leu)
c.3343A>C (p.Met1115Leu)
c.2632A>C (p.Met878Leu)
Xg.153954859C>ACA519702072HCFC1c.3540G>T (p.Val1180=)
c.3342G>T (p.Val1114=)
c.2631G>T (p.Val877=)
 gnomAD v4
Xg.153954859C>GCA519702073HCFC1c.3540G>C (p.Val1180=)
c.3342G>C (p.Val1114=)
c.2631G>C (p.Val877=)
Xg.153954859C>TCA519702074HCFC1c.3540G>A (p.Val1180=)
c.3342G>A (p.Val1114=)
c.2631G>A (p.Val877=)
Xg.153954860A>CCA415123176HCFC1c.3539T>G (p.Val1180Gly)
c.3341T>G (p.Val1114Gly)
c.2630T>G (p.Val877Gly)
Xg.153954860A>GCA415123178HCFC1c.3539T>C (p.Val1180Ala)
c.3341T>C (p.Val1114Ala)
c.2630T>C (p.Val877Ala)
 gnomAD v4
Xg.153954860A>TCA415123182HCFC1c.3539T>A (p.Val1180Glu)
c.3341T>A (p.Val1114Glu)
c.2630T>A (p.Val877Glu)
Xg.153954861C>ACA415123186HCFC1c.3538G>T (p.Val1180Leu)
c.3340G>T (p.Val1114Leu)
c.2629G>T (p.Val877Leu)
Xg.153954861C>GCA415123189HCFC1c.3538G>C (p.Val1180Leu)
c.3340G>C (p.Val1114Leu)
c.2629G>C (p.Val877Leu)
Xg.153954861C>TCA415123193HCFC1c.3538G>A (p.Val1180Met)
c.3340G>A (p.Val1114Met)
c.2629G>A (p.Val877Met)
 gnomAD v4
Xg.153954862A=CA2466540308HCFC1c.3537T= (p.Thr1179=)
c.3339T= (p.Thr1113=)
c.2628T= (p.Thr876=)
Xg.153954862A>CCA519702082HCFC1c.3537T>G (p.Thr1179=)
c.3339T>G (p.Thr1113=)
c.2628T>G (p.Thr876=)
Xg.153954862A>GCA519702081HCFC1c.3537T>C (p.Thr1179=)
c.3339T>C (p.Thr1113=)
c.2628T>C (p.Thr876=)
 gnomAD v4
Xg.153954862A>TCA519702080HCFC1c.3537T>A (p.Thr1179=)
c.3339T>A (p.Thr1113=)
c.2628T>A (p.Thr876=)
 ClinVar dbSNP gnomAD v4
Xg.153954863G>ACA415123197HCFC1c.3536C>T (p.Thr1179Ile)
c.3338C>T (p.Thr1113Ile)
c.2627C>T (p.Thr876Ile)
Xg.153954863G>CCA415123199HCFC1c.3536C>G (p.Thr1179Ser)
c.3338C>G (p.Thr1113Ser)
c.2627C>G (p.Thr876Ser)
Xg.153954863G>TCA415123202HCFC1c.3536C>A (p.Thr1179Asn)
c.3338C>A (p.Thr1113Asn)
c.2627C>A (p.Thr876Asn)

Number of alleles fetched