Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.153954544_153954549delCA2466540177HCFC1c.3853_3858del (p.Val1285_Thr1286del)
c.3655_3660del (p.Val1219_Thr1220del)
c.2944_2949del (p.Val982_Thr983del)
 dbSNP
Xg.153954547G>ACA10557125HCFC1c.3852C>T (p.Thr1284=)
c.3654C>T (p.Thr1218=)
c.2943C>T (p.Thr981=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.153954547G>CCA519702055HCFC1c.3852C>G (p.Thr1284=)
c.3654C>G (p.Thr1218=)
c.2943C>G (p.Thr981=)
Xg.153954547G=CA2466540181HCFC1c.3852C= (p.Thr1284=)
c.3654C= (p.Thr1218=)
c.2943C= (p.Thr981=)
Xg.153954547G>TCA519702056HCFC1c.3852C>A (p.Thr1284=)
c.3654C>A (p.Thr1218=)
c.2943C>A (p.Thr981=)
Xg.153954548G>ACA415119061HCFC1c.3851C>T (p.Thr1284Ile)
c.3653C>T (p.Thr1218Ile)
c.2942C>T (p.Thr981Ile)
 gnomAD v4
Xg.153954548G>CCA415119065HCFC1c.3851C>G (p.Thr1284Ser)
c.3653C>G (p.Thr1218Ser)
c.2942C>G (p.Thr981Ser)
Xg.153954548G>TCA415119063HCFC1c.3851C>A (p.Thr1284Asn)
c.3653C>A (p.Thr1218Asn)
c.2942C>A (p.Thr981Asn)
Xg.153954548_153954555delinsGTGGCCGACA2466540182HCFC1c.3844_3851delinsTCGGCCAC (p.Ser1282=)
c.3646_3653delinsTCGGCCAC (p.Ser1216=)
c.2935_2942delinsTCGGCCAC (p.Ser979=)
Xg.153954549T>ACA415119067HCFC1c.3850A>T (p.Thr1284Ser)
c.3652A>T (p.Thr1218Ser)
c.2941A>T (p.Thr981Ser)
Xg.153954549T>CCA415119070HCFC1c.3850A>G (p.Thr1284Ala)
c.3652A>G (p.Thr1218Ala)
c.2941A>G (p.Thr981Ala)
Xg.153954549T>GCA415119071HCFC1c.3850A>C (p.Thr1284Pro)
c.3652A>C (p.Thr1218Pro)
c.2941A>C (p.Thr981Pro)
Xg.153954549_153954555delCA645289623HCFC1c.3844_3850del (p.Ser1282ProfsTer2)
c.3646_3652del (p.Ser1216ProfsTer2)
c.2935_2941del (p.Ser979ProfsTer2)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954550G>ACA519702063HCFC1c.3849C>T (p.Ala1283=)
c.3651C>T (p.Ala1217=)
c.2940C>T (p.Ala980=)
Xg.153954550G>CCA519702064HCFC1c.3849C>G (p.Ala1283=)
c.3651C>G (p.Ala1217=)
c.2940C>G (p.Ala980=)
Xg.153954550G>TCA519702065HCFC1c.3849C>A (p.Ala1283=)
c.3651C>A (p.Ala1217=)
c.2940C>A (p.Ala980=)
Xg.153954551G>ACA337252604HCFC1c.3848C>T (p.Ala1283Val)
c.3650C>T (p.Ala1217Val)
c.2939C>T (p.Ala980Val)
 dbSNP
Xg.153954551G>CCA415119076HCFC1c.3848C>G (p.Ala1283Gly)
c.3650C>G (p.Ala1217Gly)
c.2939C>G (p.Ala980Gly)
Xg.153954551G=CA2466540184HCFC1c.3848C= (p.Ala1283=)
c.3650C= (p.Ala1217=)
c.2939C= (p.Ala980=)
Xg.153954551G>TCA415119078HCFC1c.3848C>A (p.Ala1283Asp)
c.3650C>A (p.Ala1217Asp)
c.2939C>A (p.Ala980Asp)
Xg.153954551_153954553delinsGCCCA2466540183HCFC1c.3846_3848delinsGGC (p.Ser1282=)
c.3648_3650delinsGGC (p.Ser1216=)
c.2937_2939delinsGGC (p.Ser979=)
Xg.153954552C>ACA415119079HCFC1c.3847G>T (p.Ala1283Ser)
c.3649G>T (p.Ala1217Ser)
c.2938G>T (p.Ala980Ser)
Xg.153954552C=CA2466540186HCFC1c.3847G= (p.Ala1283=)
c.3649G= (p.Ala1217=)
c.2938G= (p.Ala980=)
Xg.153954552C>GCA415119082HCFC1c.3847G>C (p.Ala1283Pro)
c.3649G>C (p.Ala1217Pro)
c.2938G>C (p.Ala980Pro)
 dbSNP gnomAD v3 gnomAD v4
Xg.153954552C>TCA415119084HCFC1c.3847G>A (p.Ala1283Thr)
c.3649G>A (p.Ala1217Thr)
c.2938G>A (p.Ala980Thr)
Xg.153954552_153954553delCA2466540185HCFC1c.3846_3847del (p.Ala1283HisfsTer12)
c.3648_3649del (p.Ala1217HisfsTer12)
c.2937_2938del (p.Ala980HisfsTer12)
 dbSNP
Xg.153954553C>ACA519702075HCFC1c.3846G>T (p.Ser1282=)
c.3648G>T (p.Ser1216=)
c.2937G>T (p.Ser979=)
Xg.153954553C=CA2466540187HCFC1c.3846G= (p.Ser1282=)
c.3648G= (p.Ser1216=)
c.2937G= (p.Ser979=)
Xg.153954553C>GCA519702076HCFC1c.3846G>C (p.Ser1282=)
c.3648G>C (p.Ser1216=)
c.2937G>C (p.Ser979=)
Xg.153954553C>TCA10557126HCFC1c.3846G>A (p.Ser1282=)
c.3648G>A (p.Ser1216=)
c.2937G>A (p.Ser979=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954554G>ACA10557127HCFC1c.3845C>T (p.Ser1282Leu)
c.3647C>T (p.Ser1216Leu)
c.2936C>T (p.Ser979Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954554G>CCA415119089HCFC1c.3845C>G (p.Ser1282Trp)
c.3647C>G (p.Ser1216Trp)
c.2936C>G (p.Ser979Trp)
Xg.153954554G=CA2466540188HCFC1c.3845C= (p.Ser1282=)
c.3647C= (p.Ser1216=)
c.2936C= (p.Ser979=)
Xg.153954554G>TCA415119091HCFC1c.3845C>A (p.Ser1282Ter)
c.3647C>A (p.Ser1216Ter)
c.2936C>A (p.Ser979Ter)
Xg.153954555A=CA2466540189HCFC1c.3844T= (p.Ser1282=)
c.3646T= (p.Ser1216=)
c.2935T= (p.Ser979=)
Xg.153954555A>CCA415119098HCFC1c.3844T>G (p.Ser1282Ala)
c.3646T>G (p.Ser1216Ala)
c.2935T>G (p.Ser979Ala)
Xg.153954555A>GCA415119094HCFC1c.3844T>C (p.Ser1282Pro)
c.3646T>C (p.Ser1216Pro)
c.2935T>C (p.Ser979Pro)
Xg.153954555A>TCA415119096HCFC1c.3844T>A (p.Ser1282Thr)
c.3646T>A (p.Ser1216Thr)
c.2935T>A (p.Ser979Thr)
 dbSNP
Xg.153954556G>ACA519702083HCFC1c.3843C>T (p.Pro1281=)
c.3645C>T (p.Pro1215=)
c.2934C>T (p.Pro978=)
Xg.153954556G>CCA519702084HCFC1c.3843C>G (p.Pro1281=)
c.3645C>G (p.Pro1215=)
c.2934C>G (p.Pro978=)
Xg.153954556G=CA2466540190HCFC1c.3843C= (p.Pro1281=)
c.3645C= (p.Pro1215=)
c.2934C= (p.Pro978=)
Xg.153954556G>TCA519702085HCFC1c.3843C>A (p.Pro1281=)
c.3645C>A (p.Pro1215=)
c.2934C>A (p.Pro978=)
 dbSNP
Xg.153954556_153954557insTTCA645289624HCFC1c.3842_3843insAA (p.Ser1282ThrfsTer5)
c.3644_3645insAA (p.Ser1216ThrfsTer5)
c.2933_2934insAA (p.Ser979ThrfsTer5)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954557G>ACA415119099HCFC1c.3842C>T (p.Pro1281Leu)
c.3644C>T (p.Pro1215Leu)
c.2933C>T (p.Pro978Leu)
Xg.153954557G>CCA415119103HCFC1c.3842C>G (p.Pro1281Arg)
c.3644C>G (p.Pro1215Arg)
c.2933C>G (p.Pro978Arg)
Xg.153954557G>TCA415119106HCFC1c.3842C>A (p.Pro1281His)
c.3644C>A (p.Pro1215His)
c.2933C>A (p.Pro978His)
Xg.153954558G>ACA415119109HCFC1c.3841C>T (p.Pro1281Ser)
c.3643C>T (p.Pro1215Ser)
c.2932C>T (p.Pro978Ser)
 dbSNP gnomAD v2 gnomAD v4
Xg.153954558G>CCA415119111HCFC1c.3841C>G (p.Pro1281Ala)
c.3643C>G (p.Pro1215Ala)
c.2932C>G (p.Pro978Ala)
 gnomAD v4
Xg.153954558G=CA2466540191HCFC1c.3841C= (p.Pro1281=)
c.3643C= (p.Pro1215=)
c.2932C= (p.Pro978=)
Xg.153954558G>TCA415119113HCFC1c.3841C>A (p.Pro1281Thr)
c.3643C>A (p.Pro1215Thr)
c.2932C>A (p.Pro978Thr)
Xg.153954559G>ACA519702094HCFC1c.3840C>T (p.Cys1280=)
c.3642C>T (p.Cys1214=)
c.2931C>T (p.Cys977=)
 gnomAD v4
Xg.153954559G>CCA415119116HCFC1c.3840C>G (p.Cys1280Trp)
c.3642C>G (p.Cys1214Trp)
c.2931C>G (p.Cys977Trp)
 gnomAD v4
Xg.153954559G>TCA415119118HCFC1c.3840C>A (p.Cys1280Ter)
c.3642C>A (p.Cys1214Ter)
c.2931C>A (p.Cys977Ter)
Xg.153954560C>ACA415119120HCFC1c.3839G>T (p.Cys1280Phe)
c.3641G>T (p.Cys1214Phe)
c.2930G>T (p.Cys977Phe)
Xg.153954560C>GCA415119121HCFC1c.3839G>C (p.Cys1280Ser)
c.3641G>C (p.Cys1214Ser)
c.2930G>C (p.Cys977Ser)
 ClinVar
Xg.153954560C>TCA415119123HCFC1c.3839G>A (p.Cys1280Tyr)
c.3641G>A (p.Cys1214Tyr)
c.2930G>A (p.Cys977Tyr)
Xg.153954561A>CCA415119127HCFC1c.3838T>G (p.Cys1280Gly)
c.3640T>G (p.Cys1214Gly)
c.2929T>G (p.Cys977Gly)
Xg.153954561A>GCA415119131HCFC1c.3838T>C (p.Cys1280Arg)
c.3640T>C (p.Cys1214Arg)
c.2929T>C (p.Cys977Arg)
Xg.153954561A>TCA415119130HCFC1c.3838T>A (p.Cys1280Ser)
c.3640T>A (p.Cys1214Ser)
c.2929T>A (p.Cys977Ser)
Xg.153954561_153954568delinsACAGCAGTCA2466540192HCFC1c.3831_3838delinsACTGCTGT (p.Ala1277=)
c.3633_3640delinsACTGCTGT (p.Ala1211=)
c.2922_2929delinsACTGCTGT (p.Ala974=)
Xg.153954562C>ACA519702102HCFC1c.3837G>T (p.Leu1279=)
c.3639G>T (p.Leu1213=)
c.2928G>T (p.Leu976=)
Xg.153954562C=CA2466540193HCFC1c.3837G= (p.Leu1279=)
c.3639G= (p.Leu1213=)
c.2928G= (p.Leu976=)
Xg.153954562C>GCA519702104HCFC1c.3837G>C (p.Leu1279=)
c.3639G>C (p.Leu1213=)
c.2928G>C (p.Leu976=)
Xg.153954562C>TCA337252631HCFC1c.3837G>A (p.Leu1279=)
c.3639G>A (p.Leu1213=)
c.2928G>A (p.Leu976=)
 dbSNP gnomAD v4
Xg.153954562_153954568delCA645289625HCFC1c.3831_3837del (p.Leu1278AlafsTer6)
c.3633_3639del (p.Leu1212AlafsTer6)
c.2922_2928del (p.Leu975AlafsTer6)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954563A>CCA415119134HCFC1c.3836T>G (p.Leu1279Arg)
c.3638T>G (p.Leu1213Arg)
c.2927T>G (p.Leu976Arg)
Xg.153954563A>GCA415119137HCFC1c.3836T>C (p.Leu1279Pro)
c.3638T>C (p.Leu1213Pro)
c.2927T>C (p.Leu976Pro)
Xg.153954563A>TCA415119139HCFC1c.3836T>A (p.Leu1279Gln)
c.3638T>A (p.Leu1213Gln)
c.2927T>A (p.Leu976Gln)
Xg.153954564G>ACA519702109HCFC1c.3835C>T (p.Leu1279=)
c.3637C>T (p.Leu1213=)
c.2926C>T (p.Leu976=)
Xg.153954564G>CCA415119142HCFC1c.3835C>G (p.Leu1279Val)
c.3637C>G (p.Leu1213Val)
c.2926C>G (p.Leu976Val)
Xg.153954564G>TCA415119144HCFC1c.3835C>A (p.Leu1279Met)
c.3637C>A (p.Leu1213Met)
c.2926C>A (p.Leu976Met)
Xg.153954565C>ACA519702117HCFC1c.3834G>T (p.Leu1278=)
c.3636G>T (p.Leu1212=)
c.2925G>T (p.Leu975=)
Xg.153954565C=CA2466540194HCFC1c.3834G= (p.Leu1278=)
c.3636G= (p.Leu1212=)
c.2925G= (p.Leu975=)
Xg.153954565C>GCA519702115HCFC1c.3834G>C (p.Leu1278=)
c.3636G>C (p.Leu1212=)
c.2925G>C (p.Leu975=)
 gnomAD v4
Xg.153954565C>TCA519702113HCFC1c.3834G>A (p.Leu1278=)
c.3636G>A (p.Leu1212=)
c.2925G>A (p.Leu975=)
 ClinVar dbSNP
Xg.153954566A>CCA415119147HCFC1c.3833T>G (p.Leu1278Arg)
c.3635T>G (p.Leu1212Arg)
c.2924T>G (p.Leu975Arg)
Xg.153954566A>GCA415119148HCFC1c.3833T>C (p.Leu1278Pro)
c.3635T>C (p.Leu1212Pro)
c.2924T>C (p.Leu975Pro)
Xg.153954566A>TCA415119151HCFC1c.3833T>A (p.Leu1278Gln)
c.3635T>A (p.Leu1212Gln)
c.2924T>A (p.Leu975Gln)
Xg.153954567G>ACA519702121HCFC1c.3832C>T (p.Leu1278=)
c.3634C>T (p.Leu1212=)
c.2923C>T (p.Leu975=)
Xg.153954567G>CCA415119158HCFC1c.3832C>G (p.Leu1278Val)
c.3634C>G (p.Leu1212Val)
c.2923C>G (p.Leu975Val)
Xg.153954567G>TCA415119161HCFC1c.3832C>A (p.Leu1278Met)
c.3634C>A (p.Leu1212Met)
c.2923C>A (p.Leu975Met)
Xg.153954568T>ACA519702125HCFC1c.3831A>T (p.Ala1277=)
c.3633A>T (p.Ala1211=)
c.2922A>T (p.Ala974=)
Xg.153954568T>CCA519702127HCFC1c.3831A>G (p.Ala1277=)
c.3633A>G (p.Ala1211=)
c.2922A>G (p.Ala974=)
Xg.153954568T>GCA519702129HCFC1c.3831A>C (p.Ala1277=)
c.3633A>C (p.Ala1211=)
c.2922A>C (p.Ala974=)
Xg.153954569G>ACA415119164HCFC1c.3830C>T (p.Ala1277Val)
c.3632C>T (p.Ala1211Val)
c.2921C>T (p.Ala974Val)
Xg.153954569G>CCA415119163HCFC1c.3830C>G (p.Ala1277Gly)
c.3632C>G (p.Ala1211Gly)
c.2921C>G (p.Ala974Gly)
Xg.153954569G>TCA415119162HCFC1c.3830C>A (p.Ala1277Glu)
c.3632C>A (p.Ala1211Glu)
c.2921C>A (p.Ala974Glu)
Xg.153954570C>ACA415119166HCFC1c.3829G>T (p.Ala1277Ser)
c.3631G>T (p.Ala1211Ser)
c.2920G>T (p.Ala974Ser)
 dbSNP gnomAD v4
Xg.153954570C=CA2466540195HCFC1c.3829G= (p.Ala1277=)
c.3631G= (p.Ala1211=)
c.2920G= (p.Ala974=)
Xg.153954570C>GCA415119170HCFC1c.3829G>C (p.Ala1277Pro)
c.3631G>C (p.Ala1211Pro)
c.2920G>C (p.Ala974Pro)
Xg.153954570C>TCA415119171HCFC1c.3829G>A (p.Ala1277Thr)
c.3631G>A (p.Ala1211Thr)
c.2920G>A (p.Ala974Thr)
 ClinVar dbSNP
Xg.153954571C>ACA415119175HCFC1c.3828G>T (p.Glu1276Asp)
c.3630G>T (p.Glu1210Asp)
c.2919G>T (p.Glu973Asp)
Xg.153954571C>GCA415119176HCFC1c.3828G>C (p.Glu1276Asp)
c.3630G>C (p.Glu1210Asp)
c.2919G>C (p.Glu973Asp)
Xg.153954571C>TCA519702139HCFC1c.3828G>A (p.Glu1276=)
c.3630G>A (p.Glu1210=)
c.2919G>A (p.Glu973=)
Xg.153954572T>ACA415119179HCFC1c.3827A>T (p.Glu1276Val)
c.3629A>T (p.Glu1210Val)
c.2918A>T (p.Glu973Val)
 dbSNP gnomAD v2 gnomAD v4
Xg.153954572T>CCA415119181HCFC1c.3827A>G (p.Glu1276Gly)
c.3629A>G (p.Glu1210Gly)
c.2918A>G (p.Glu973Gly)
Xg.153954572T>GCA415119185HCFC1c.3827A>C (p.Glu1276Ala)
c.3629A>C (p.Glu1210Ala)
c.2918A>C (p.Glu973Ala)
Xg.153954572T=CA2466540196HCFC1c.3827A= (p.Glu1276=)
c.3629A= (p.Glu1210=)
c.2918A= (p.Glu973=)
Xg.153954573C>ACA415119187HCFC1c.3826G>T (p.Glu1276Ter)
c.3628G>T (p.Glu1210Ter)
c.2917G>T (p.Glu973Ter)
Xg.153954573C>GCA415119189HCFC1c.3826G>C (p.Glu1276Gln)
c.3628G>C (p.Glu1210Gln)
c.2917G>C (p.Glu973Gln)
Xg.153954573C>TCA415119192HCFC1c.3826G>A (p.Glu1276Lys)
c.3628G>A (p.Glu1210Lys)
c.2917G>A (p.Glu973Lys)
 COSMIC COSMIC
Xg.153954574C>ACA519702145HCFC1c.3825G>T (p.Leu1275=)
c.3627G>T (p.Leu1209=)
c.2916G>T (p.Leu972=)
Xg.153954574C=CA2466540197HCFC1c.3825G= (p.Leu1275=)
c.3627G= (p.Leu1209=)
c.2916G= (p.Leu972=)
Xg.153954574C>GCA519702147HCFC1c.3825G>C (p.Leu1275=)
c.3627G>C (p.Leu1209=)
c.2916G>C (p.Leu972=)
 dbSNP gnomAD v4
Xg.153954574C>TCA519702148HCFC1c.3825G>A (p.Leu1275=)
c.3627G>A (p.Leu1209=)
c.2916G>A (p.Leu972=)
Xg.153954575A>CCA415119195HCFC1c.3824T>G (p.Leu1275Arg)
c.3626T>G (p.Leu1209Arg)
c.2915T>G (p.Leu972Arg)
Xg.153954575A>GCA415119201HCFC1c.3824T>C (p.Leu1275Pro)
c.3626T>C (p.Leu1209Pro)
c.2915T>C (p.Leu972Pro)
 gnomAD v4
Xg.153954575A>TCA415119197HCFC1c.3824T>A (p.Leu1275Gln)
c.3626T>A (p.Leu1209Gln)
c.2915T>A (p.Leu972Gln)
Xg.153954576G>ACA519702152HCFC1c.3823C>T (p.Leu1275=)
c.3625C>T (p.Leu1209=)
c.2914C>T (p.Leu972=)
Xg.153954576G>CCA415119203HCFC1c.3823C>G (p.Leu1275Val)
c.3625C>G (p.Leu1209Val)
c.2914C>G (p.Leu972Val)
Xg.153954576G>TCA415119206HCFC1c.3823C>A (p.Leu1275Met)
c.3625C>A (p.Leu1209Met)
c.2914C>A (p.Leu972Met)
Xg.153954577G>ACA519702156HCFC1c.3822C>T (p.Ala1274=)
c.3624C>T (p.Ala1208=)
c.2913C>T (p.Ala971=)
 gnomAD v4
Xg.153954577G>CCA519702157HCFC1c.3822C>G (p.Ala1274=)
c.3624C>G (p.Ala1208=)
c.2913C>G (p.Ala971=)
Xg.153954577G>TCA519702158HCFC1c.3822C>A (p.Ala1274=)
c.3624C>A (p.Ala1208=)
c.2913C>A (p.Ala971=)
Xg.153954578G>ACA415119209HCFC1c.3821C>T (p.Ala1274Val)
c.3623C>T (p.Ala1208Val)
c.2912C>T (p.Ala971Val)
Xg.153954578G>CCA415119211HCFC1c.3821C>G (p.Ala1274Gly)
c.3623C>G (p.Ala1208Gly)
c.2912C>G (p.Ala971Gly)
Xg.153954578G>TCA415119213HCFC1c.3821C>A (p.Ala1274Asp)
c.3623C>A (p.Ala1208Asp)
c.2912C>A (p.Ala971Asp)
Xg.153954579C>ACA415119222HCFC1c.3820G>T (p.Ala1274Ser)
c.3622G>T (p.Ala1208Ser)
c.2911G>T (p.Ala971Ser)
Xg.153954579C>GCA415119220HCFC1c.3820G>C (p.Ala1274Pro)
c.3622G>C (p.Ala1208Pro)
c.2911G>C (p.Ala971Pro)
Xg.153954579C>TCA415119217HCFC1c.3820G>A (p.Ala1274Thr)
c.3622G>A (p.Ala1208Thr)
c.2911G>A (p.Ala971Thr)
Xg.153954580T>ACA519702165HCFC1c.3819A>T (p.Thr1273=)
c.3621A>T (p.Thr1207=)
c.2910A>T (p.Thr970=)
Xg.153954580T>CCA519702166HCFC1c.3819A>G (p.Thr1273=)
c.3621A>G (p.Thr1207=)
c.2910A>G (p.Thr970=)
Xg.153954580T>GCA519702164HCFC1c.3819A>C (p.Thr1273=)
c.3621A>C (p.Thr1207=)
c.2910A>C (p.Thr970=)
Xg.153954581G>ACA415119224HCFC1c.3818C>T (p.Thr1273Ile)
c.3620C>T (p.Thr1207Ile)
c.2909C>T (p.Thr970Ile)
 gnomAD v4
Xg.153954581G>CCA415119226HCFC1c.3818C>G (p.Thr1273Arg)
c.3620C>G (p.Thr1207Arg)
c.2909C>G (p.Thr970Arg)
Xg.153954581G>TCA415119229HCFC1c.3818C>A (p.Thr1273Lys)
c.3620C>A (p.Thr1207Lys)
c.2909C>A (p.Thr970Lys)
Xg.153954582T>ACA415119230HCFC1c.3817A>T (p.Thr1273Ser)
c.3619A>T (p.Thr1207Ser)
c.2908A>T (p.Thr970Ser)
Xg.153954582T>CCA415119232HCFC1c.3817A>G (p.Thr1273Ala)
c.3619A>G (p.Thr1207Ala)
c.2908A>G (p.Thr970Ala)
Xg.153954582T>GCA415119235HCFC1c.3817A>C (p.Thr1273Pro)
c.3619A>C (p.Thr1207Pro)
c.2908A>C (p.Thr970Pro)
Xg.153954583C>ACA519702171HCFC1c.3816G>T (p.Val1272=)
c.3618G>T (p.Val1206=)
c.2907G>T (p.Val969=)
Xg.153954583C>GCA519702172HCFC1c.3816G>C (p.Val1272=)
c.3618G>C (p.Val1206=)
c.2907G>C (p.Val969=)
Xg.153954583C>TCA519702173HCFC1c.3816G>A (p.Val1272=)
c.3618G>A (p.Val1206=)
c.2907G>A (p.Val969=)
 gnomAD v4 COSMIC COSMIC
Xg.153954584A>CCA415119242HCFC1c.3815T>G (p.Val1272Gly)
c.3617T>G (p.Val1206Gly)
c.2906T>G (p.Val969Gly)
Xg.153954584A>GCA415119238HCFC1c.3815T>C (p.Val1272Ala)
c.3617T>C (p.Val1206Ala)
c.2906T>C (p.Val969Ala)
Xg.153954584A>TCA415119239HCFC1c.3815T>A (p.Val1272Glu)
c.3617T>A (p.Val1206Glu)
c.2906T>A (p.Val969Glu)
Xg.153954585C>ACA415119244HCFC1c.3814G>T (p.Val1272Leu)
c.3616G>T (p.Val1206Leu)
c.2905G>T (p.Val969Leu)
 COSMIC COSMIC
Xg.153954585C>GCA415119247HCFC1c.3814G>C (p.Val1272Leu)
c.3616G>C (p.Val1206Leu)
c.2905G>C (p.Val969Leu)
Xg.153954585C>TCA415119249HCFC1c.3814G>A (p.Val1272Met)
c.3616G>A (p.Val1206Met)
c.2905G>A (p.Val969Met)
Xg.153954586A>CCA519702180HCFC1c.3813T>G (p.Thr1271=)
c.3615T>G (p.Thr1205=)
c.2904T>G (p.Thr968=)
Xg.153954586A>GCA519702181HCFC1c.3813T>C (p.Thr1271=)
c.3615T>C (p.Thr1205=)
c.2904T>C (p.Thr968=)
Xg.153954586A>TCA519702182HCFC1c.3813T>A (p.Thr1271=)
c.3615T>A (p.Thr1205=)
c.2904T>A (p.Thr968=)
Xg.153954587G>ACA415119253HCFC1c.3812C>T (p.Thr1271Ile)
c.3614C>T (p.Thr1205Ile)
c.2903C>T (p.Thr968Ile)
 ClinVar dbSNP
Xg.153954587G>CCA415119255HCFC1c.3812C>G (p.Thr1271Ser)
c.3614C>G (p.Thr1205Ser)
c.2903C>G (p.Thr968Ser)
Xg.153954587G=CA2466540198HCFC1c.3812C= (p.Thr1271=)
c.3614C= (p.Thr1205=)
c.2903C= (p.Thr968=)
Xg.153954587G>TCA415119259HCFC1c.3812C>A (p.Thr1271Asn)
c.3614C>A (p.Thr1205Asn)
c.2903C>A (p.Thr968Asn)
 gnomAD v4
Xg.153954589_153954594delCA2580101725HCFC1c.3807_3812del (p.Val1270_Thr1271del)
c.3609_3614del (p.Val1204_Thr1205del)
c.2898_2903del (p.Val967_Thr968del)
 ClinVar
Xg.153954588T>ACA415119261HCFC1c.3811A>T (p.Thr1271Ser)
c.3613A>T (p.Thr1205Ser)
c.2902A>T (p.Thr968Ser)
Xg.153954588T>CCA415119263HCFC1c.3811A>G (p.Thr1271Ala)
c.3613A>G (p.Thr1205Ala)
c.2902A>G (p.Thr968Ala)
 ClinVar
Xg.153954588T>GCA415119266HCFC1c.3811A>C (p.Thr1271Pro)
c.3613A>C (p.Thr1205Pro)
c.2902A>C (p.Thr968Pro)
Xg.153954589C>ACA519702187HCFC1c.3810G>T (p.Val1270=)
c.3612G>T (p.Val1204=)
c.2901G>T (p.Val967=)
Xg.153954589C>GCA519702188HCFC1c.3810G>C (p.Val1270=)
c.3612G>C (p.Val1204=)
c.2901G>C (p.Val967=)
Xg.153954589C>TCA519702189HCFC1c.3810G>A (p.Val1270=)
c.3612G>A (p.Val1204=)
c.2901G>A (p.Val967=)
Xg.153954590A>CCA415119270HCFC1c.3809T>G (p.Val1270Gly)
c.3611T>G (p.Val1204Gly)
c.2900T>G (p.Val967Gly)
Xg.153954590A>GCA415119271HCFC1c.3809T>C (p.Val1270Ala)
c.3611T>C (p.Val1204Ala)
c.2900T>C (p.Val967Ala)
 gnomAD v4
Xg.153954590A>TCA415119274HCFC1c.3809T>A (p.Val1270Glu)
c.3611T>A (p.Val1204Glu)
c.2900T>A (p.Val967Glu)
Xg.153954591C>ACA415119280HCFC1c.3808G>T (p.Val1270Leu)
c.3610G>T (p.Val1204Leu)
c.2899G>T (p.Val967Leu)
Xg.153954591C>GCA415119278HCFC1c.3808G>C (p.Val1270Leu)
c.3610G>C (p.Val1204Leu)
c.2899G>C (p.Val967Leu)
Xg.153954591C>TCA415119279HCFC1c.3808G>A (p.Val1270Met)
c.3610G>A (p.Val1204Met)
c.2899G>A (p.Val967Met)
Xg.153954592T>ACA519702196HCFC1c.3807A>T (p.Thr1269=)
c.3609A>T (p.Thr1203=)
c.2898A>T (p.Thr966=)
Xg.153954592T>CCA519702198HCFC1c.3807A>G (p.Thr1269=)
c.3609A>G (p.Thr1203=)
c.2898A>G (p.Thr966=)
Xg.153954592T>GCA519702199HCFC1c.3807A>C (p.Thr1269=)
c.3609A>C (p.Thr1203=)
c.2898A>C (p.Thr966=)
Xg.153954593G>ACA415119283HCFC1c.3806C>T (p.Thr1269Ile)
c.3608C>T (p.Thr1203Ile)
c.2897C>T (p.Thr966Ile)
 gnomAD v4
Xg.153954593G>CCA415119286HCFC1c.3806C>G (p.Thr1269Arg)
c.3608C>G (p.Thr1203Arg)
c.2897C>G (p.Thr966Arg)
Xg.153954593G>TCA415119288HCFC1c.3806C>A (p.Thr1269Lys)
c.3608C>A (p.Thr1203Lys)
c.2897C>A (p.Thr966Lys)
Xg.153954594T>ACA415119290HCFC1c.3805A>T (p.Thr1269Ser)
c.3607A>T (p.Thr1203Ser)
c.2896A>T (p.Thr966Ser)
Xg.153954594T>CCA337252635HCFC1c.3805A>G (p.Thr1269Ala)
c.3607A>G (p.Thr1203Ala)
c.2896A>G (p.Thr966Ala)
 dbSNP
Xg.153954594T>GCA415119293HCFC1c.3805A>C (p.Thr1269Pro)
c.3607A>C (p.Thr1203Pro)
c.2896A>C (p.Thr966Pro)
Xg.153954594T=CA2466540199HCFC1c.3805A= (p.Thr1269=)
c.3607A= (p.Thr1203=)
c.2896A= (p.Thr966=)
Xg.153954595G>ACA519702206HCFC1c.3804C>T (p.Thr1268=)
c.3606C>T (p.Thr1202=)
c.2895C>T (p.Thr965=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954595G>CCA519702210HCFC1c.3804C>G (p.Thr1268=)
c.3606C>G (p.Thr1202=)
c.2895C>G (p.Thr965=)
Xg.153954595G=CA2466540200HCFC1c.3804C= (p.Thr1268=)
c.3606C= (p.Thr1202=)
c.2895C= (p.Thr965=)
Xg.153954595G>TCA519702211HCFC1c.3804C>A (p.Thr1268=)
c.3606C>A (p.Thr1202=)
c.2895C>A (p.Thr965=)
Xg.153954596G>ACA415119300HCFC1c.3803C>T (p.Thr1268Ile)
c.3605C>T (p.Thr1202Ile)
c.2894C>T (p.Thr965Ile)
Xg.153954596G>CCA415119297HCFC1c.3803C>G (p.Thr1268Ser)
c.3605C>G (p.Thr1202Ser)
c.2894C>G (p.Thr965Ser)
Xg.153954596G>TCA415119298HCFC1c.3803C>A (p.Thr1268Asn)
c.3605C>A (p.Thr1202Asn)
c.2894C>A (p.Thr965Asn)
Xg.153954597T>ACA415119303HCFC1c.3802A>T (p.Thr1268Ser)
c.3604A>T (p.Thr1202Ser)
c.2893A>T (p.Thr965Ser)
Xg.153954597T>CCA415119305HCFC1c.3802A>G (p.Thr1268Ala)
c.3604A>G (p.Thr1202Ala)
c.2893A>G (p.Thr965Ala)
Xg.153954597T>GCA415119307HCFC1c.3802A>C (p.Thr1268Pro)
c.3604A>C (p.Thr1202Pro)
c.2893A>C (p.Thr965Pro)
Xg.153954598G>ACA519702218HCFC1c.3801C>T (p.Ser1267=)
c.3603C>T (p.Ser1201=)
c.2892C>T (p.Ser964=)
Xg.153954598G>CCA415119308HCFC1c.3801C>G (p.Ser1267Arg)
c.3603C>G (p.Ser1201Arg)
c.2892C>G (p.Ser964Arg)
Xg.153954598G>TCA415119309HCFC1c.3801C>A (p.Ser1267Arg)
c.3603C>A (p.Ser1201Arg)
c.2892C>A (p.Ser964Arg)
Xg.153954599C>ACA415119312HCFC1c.3800G>T (p.Ser1267Ile)
c.3602G>T (p.Ser1201Ile)
c.2891G>T (p.Ser964Ile)
 gnomAD v4
Xg.153954599C>GCA415119316HCFC1c.3800G>C (p.Ser1267Thr)
c.3602G>C (p.Ser1201Thr)
c.2891G>C (p.Ser964Thr)
Xg.153954599C>TCA415119315HCFC1c.3800G>A (p.Ser1267Asn)
c.3602G>A (p.Ser1201Asn)
c.2891G>A (p.Ser964Asn)
 gnomAD v4
Xg.153954600T>ACA415119319HCFC1c.3799A>T (p.Ser1267Cys)
c.3601A>T (p.Ser1201Cys)
c.2890A>T (p.Ser964Cys)
Xg.153954600T>CCA415119322HCFC1c.3799A>G (p.Ser1267Gly)
c.3601A>G (p.Ser1201Gly)
c.2890A>G (p.Ser964Gly)
 gnomAD v4
Xg.153954600T>GCA415119324HCFC1c.3799A>C (p.Ser1267Arg)
c.3601A>C (p.Ser1201Arg)
c.2890A>C (p.Ser964Arg)
Xg.153954601G>ACA519702224HCFC1c.3798C>T (p.Pro1266=)
c.3600C>T (p.Pro1200=)
c.2889C>T (p.Pro963=)
 ClinVar gnomAD v4
Xg.153954601G>CCA519702227HCFC1c.3798C>G (p.Pro1266=)
c.3600C>G (p.Pro1200=)
c.2889C>G (p.Pro963=)
Xg.153954601G>TCA519702229HCFC1c.3798C>A (p.Pro1266=)
c.3600C>A (p.Pro1200=)
c.2889C>A (p.Pro963=)
Xg.153954603delCA2579735260HCFC1c.3798del (p.Ser1267AlafsTer4)
c.3600del (p.Ser1201AlafsTer4)
c.2889del (p.Ser964AlafsTer4)
Xg.153954602G>ACA415119326HCFC1c.3797C>T (p.Pro1266Leu)
c.3599C>T (p.Pro1200Leu)
c.2888C>T (p.Pro963Leu)
Xg.153954602G>CCA415119327HCFC1c.3797C>G (p.Pro1266Arg)
c.3599C>G (p.Pro1200Arg)
c.2888C>G (p.Pro963Arg)
 dbSNP
Xg.153954602G=CA2466540201HCFC1c.3797C= (p.Pro1266=)
c.3599C= (p.Pro1200=)
c.2888C= (p.Pro963=)
Xg.153954602G>TCA415119330HCFC1c.3797C>A (p.Pro1266His)
c.3599C>A (p.Pro1200His)
c.2888C>A (p.Pro963His)
Xg.153954603G>ACA415119337HCFC1c.3796C>T (p.Pro1266Ser)
c.3598C>T (p.Pro1200Ser)
c.2887C>T (p.Pro963Ser)
 gnomAD v4
Xg.153954603G>CCA415119338HCFC1c.3796C>G (p.Pro1266Ala)
c.3598C>G (p.Pro1200Ala)
c.2887C>G (p.Pro963Ala)
Xg.153954603G>TCA415119339HCFC1c.3796C>A (p.Pro1266Thr)
c.3598C>A (p.Pro1200Thr)
c.2887C>A (p.Pro963Thr)
Xg.153954604C>ACA519702231HCFC1c.3795G>T (p.Ser1265=)
c.3597G>T (p.Ser1199=)
c.2886G>T (p.Ser962=)
Xg.153954604C=CA2466540202HCFC1c.3795G= (p.Ser1265=)
c.3597G= (p.Ser1199=)
c.2886G= (p.Ser962=)
Xg.153954604C>GCA519702232HCFC1c.3795G>C (p.Ser1265=)
c.3597G>C (p.Ser1199=)
c.2886G>C (p.Ser962=)
Xg.153954604C>TCA10557128HCFC1c.3795G>A (p.Ser1265=)
c.3597G>A (p.Ser1199=)
c.2886G>A (p.Ser962=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153954605G>ACA10557129HCFC1c.3794C>T (p.Ser1265Leu)
c.3596C>T (p.Ser1199Leu)
c.2885C>T (p.Ser962Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954605G>CCA415119348HCFC1c.3794C>G (p.Ser1265Trp)
c.3596C>G (p.Ser1199Trp)
c.2885C>G (p.Ser962Trp)
Xg.153954605G=CA2466540203HCFC1c.3794C= (p.Ser1265=)
c.3596C= (p.Ser1199=)
c.2885C= (p.Ser962=)
Xg.153954605G>TCA415119345HCFC1c.3794C>A (p.Ser1265Ter)
c.3596C>A (p.Ser1199Ter)
c.2885C>A (p.Ser962Ter)
Xg.153954606A>CCA415119350HCFC1c.3793T>G (p.Ser1265Ala)
c.3595T>G (p.Ser1199Ala)
c.2884T>G (p.Ser962Ala)
Xg.153954606A>GCA415119354HCFC1c.3793T>C (p.Ser1265Pro)
c.3595T>C (p.Ser1199Pro)
c.2884T>C (p.Ser962Pro)
Xg.153954606A>TCA415119352HCFC1c.3793T>A (p.Ser1265Thr)
c.3595T>A (p.Ser1199Thr)
c.2884T>A (p.Ser962Thr)
Xg.153954607G>ACA519702243HCFC1c.3792C>T (p.Gly1264=)
c.3594C>T (p.Gly1198=)
c.2883C>T (p.Gly961=)
 ClinVar gnomAD v4
Xg.153954607G>CCA519702242HCFC1c.3792C>G (p.Gly1264=)
c.3594C>G (p.Gly1198=)
c.2883C>G (p.Gly961=)
Xg.153954607G>TCA519702238HCFC1c.3792C>A (p.Gly1264=)
c.3594C>A (p.Gly1198=)
c.2883C>A (p.Gly961=)
Xg.153954608C>ACA415119356HCFC1c.3791G>T (p.Gly1264Val)
c.3593G>T (p.Gly1198Val)
c.2882G>T (p.Gly961Val)
Xg.153954608C=CA2466540204HCFC1c.3791G= (p.Gly1264=)
c.3593G= (p.Gly1198=)
c.2882G= (p.Gly961=)
Xg.153954608C>GCA415119359HCFC1c.3791G>C (p.Gly1264Ala)
c.3593G>C (p.Gly1198Ala)
c.2882G>C (p.Gly961Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.153954608C>TCA415119361HCFC1c.3791G>A (p.Gly1264Asp)
c.3593G>A (p.Gly1198Asp)
c.2882G>A (p.Gly961Asp)
Xg.153954609C>ACA415119364HCFC1c.3790G>T (p.Gly1264Cys)
c.3592G>T (p.Gly1198Cys)
c.2881G>T (p.Gly961Cys)
Xg.153954609C>GCA415119366HCFC1c.3790G>C (p.Gly1264Arg)
c.3592G>C (p.Gly1198Arg)
c.2881G>C (p.Gly961Arg)
Xg.153954609C>TCA415119369HCFC1c.3790G>A (p.Gly1264Ser)
c.3592G>A (p.Gly1198Ser)
c.2881G>A (p.Gly961Ser)
Xg.153954610A>CCA519702246HCFC1c.3789T>G (p.Gly1263=)
c.3591T>G (p.Gly1197=)
c.2880T>G (p.Gly960=)
Xg.153954610A>GCA519702247HCFC1c.3789T>C (p.Gly1263=)
c.3591T>C (p.Gly1197=)
c.2880T>C (p.Gly960=)
Xg.153954610A>TCA519702248HCFC1c.3789T>A (p.Gly1263=)
c.3591T>A (p.Gly1197=)
c.2880T>A (p.Gly960=)
Xg.153954611C>ACA415119371HCFC1c.3788G>T (p.Gly1263Val)
c.3590G>T (p.Gly1197Val)
c.2879G>T (p.Gly960Val)
Xg.153954611C>GCA415119372HCFC1c.3788G>C (p.Gly1263Ala)
c.3590G>C (p.Gly1197Ala)
c.2879G>C (p.Gly960Ala)
Xg.153954611C>TCA415119374HCFC1c.3788G>A (p.Gly1263Asp)
c.3590G>A (p.Gly1197Asp)
c.2879G>A (p.Gly960Asp)
Xg.153954613delCA2579735261HCFC1c.3788del (p.Gly1263ValfsTer8)
c.3590del (p.Gly1197ValfsTer8)
c.2879del (p.Gly960ValfsTer8)
Xg.153954612C>ACA415119381HCFC1c.3787G>T (p.Gly1263Cys)
c.3589G>T (p.Gly1197Cys)
c.2878G>T (p.Gly960Cys)
 gnomAD v4
Xg.153954612C>GCA415119380HCFC1c.3787G>C (p.Gly1263Arg)
c.3589G>C (p.Gly1197Arg)
c.2878G>C (p.Gly960Arg)
Xg.153954612C>TCA415119377HCFC1c.3787G>A (p.Gly1263Ser)
c.3589G>A (p.Gly1197Ser)
c.2878G>A (p.Gly960Ser)
Xg.153954613C>ACA415119383HCFC1c.3786G>T (p.Gln1262His)
c.3588G>T (p.Gln1196His)
c.2877G>T (p.Gln959His)
Xg.153954613C>GCA415119386HCFC1c.3786G>C (p.Gln1262His)
c.3588G>C (p.Gln1196His)
c.2877G>C (p.Gln959His)
Xg.153954613C>TCA519702253HCFC1c.3786G>A (p.Gln1262=)
c.3588G>A (p.Gln1196=)
c.2877G>A (p.Gln959=)
Xg.153954614T>ACA415119389HCFC1c.3785A>T (p.Gln1262Leu)
c.3587A>T (p.Gln1196Leu)
c.2876A>T (p.Gln959Leu)
 gnomAD v4
Xg.153954614T>CCA415119391HCFC1c.3785A>G (p.Gln1262Arg)
c.3587A>G (p.Gln1196Arg)
c.2876A>G (p.Gln959Arg)
Xg.153954614T>GCA415119393HCFC1c.3785A>C (p.Gln1262Pro)
c.3587A>C (p.Gln1196Pro)
c.2876A>C (p.Gln959Pro)
Xg.153954615G>ACA415119395HCFC1c.3784C>T (p.Gln1262Ter)
c.3586C>T (p.Gln1196Ter)
c.2875C>T (p.Gln959Ter)
Xg.153954615G>CCA415119397HCFC1c.3784C>G (p.Gln1262Glu)
c.3586C>G (p.Gln1196Glu)
c.2875C>G (p.Gln959Glu)
Xg.153954615G>TCA415119400HCFC1c.3784C>A (p.Gln1262Lys)
c.3586C>A (p.Gln1196Lys)
c.2875C>A (p.Gln959Lys)
Xg.153954616G>ACA519702265HCFC1c.3783C>T (p.Leu1261=)
c.3585C>T (p.Leu1195=)
c.2874C>T (p.Leu958=)
 ClinVar
Xg.153954616G>CCA519702266HCFC1c.3783C>G (p.Leu1261=)
c.3585C>G (p.Leu1195=)
c.2874C>G (p.Leu958=)
Xg.153954616G>TCA519702267HCFC1c.3783C>A (p.Leu1261=)
c.3585C>A (p.Leu1195=)
c.2874C>A (p.Leu958=)
Xg.153954617A>CCA415119403HCFC1c.3782T>G (p.Leu1261Arg)
c.3584T>G (p.Leu1195Arg)
c.2873T>G (p.Leu958Arg)
Xg.153954617A>GCA415119405HCFC1c.3782T>C (p.Leu1261Pro)
c.3584T>C (p.Leu1195Pro)
c.2873T>C (p.Leu958Pro)
Xg.153954617A>TCA415119407HCFC1c.3782T>A (p.Leu1261His)
c.3584T>A (p.Leu1195His)
c.2873T>A (p.Leu958His)
Xg.153954618G>ACA415119413HCFC1c.3781C>T (p.Leu1261Phe)
c.3583C>T (p.Leu1195Phe)
c.2872C>T (p.Leu958Phe)
 gnomAD v4
Xg.153954618G>CCA415119414HCFC1c.3781C>G (p.Leu1261Val)
c.3583C>G (p.Leu1195Val)
c.2872C>G (p.Leu958Val)
Xg.153954618G=CA2466540205HCFC1c.3781C= (p.Leu1261=)
c.3583C= (p.Leu1195=)
c.2872C= (p.Leu958=)
Xg.153954618G>TCA415119410HCFC1c.3781C>A (p.Leu1261Ile)
c.3583C>A (p.Leu1195Ile)
c.2872C>A (p.Leu958Ile)
 dbSNP gnomAD v3 gnomAD v4
Xg.153954619G>ACA519702268HCFC1c.3780C>T (p.Ser1260=)
c.3582C>T (p.Ser1194=)
c.2871C>T (p.Ser957=)
Xg.153954619G>CCA415119416HCFC1c.3780C>G (p.Ser1260Arg)
c.3582C>G (p.Ser1194Arg)
c.2871C>G (p.Ser957Arg)
Xg.153954619G=CA2466540206HCFC1c.3780C= (p.Ser1260=)
c.3582C= (p.Ser1194=)
c.2871C= (p.Ser957=)
Xg.153954619G>TCA415119419HCFC1c.3780C>A (p.Ser1260Arg)
c.3582C>A (p.Ser1194Arg)
c.2871C>A (p.Ser957Arg)
 dbSNP
Xg.153954620C>ACA415119421HCFC1c.3779G>T (p.Ser1260Ile)
c.3581G>T (p.Ser1194Ile)
c.2870G>T (p.Ser957Ile)
 ClinVar dbSNP
Xg.153954620C=CA2466540207HCFC1c.3779G= (p.Ser1260=)
c.3581G= (p.Ser1194=)
c.2870G= (p.Ser957=)
Xg.153954620C>GCA415119425HCFC1c.3779G>C (p.Ser1260Thr)
c.3581G>C (p.Ser1194Thr)
c.2870G>C (p.Ser957Thr)
Xg.153954620C>TCA415119427HCFC1c.3779G>A (p.Ser1260Asn)
c.3581G>A (p.Ser1194Asn)
c.2870G>A (p.Ser957Asn)
Xg.153954621T>ACA415119434HCFC1c.3778A>T (p.Ser1260Cys)
c.3580A>T (p.Ser1194Cys)
c.2869A>T (p.Ser957Cys)
Xg.153954621T>CCA415119430HCFC1c.3778A>G (p.Ser1260Gly)
c.3580A>G (p.Ser1194Gly)
c.2869A>G (p.Ser957Gly)
Xg.153954621T>GCA415119433HCFC1c.3778A>C (p.Ser1260Arg)
c.3580A>C (p.Ser1194Arg)
c.2869A>C (p.Ser957Arg)
Xg.153954622C>ACA415119437HCFC1c.3777G>T (p.Glu1259Asp)
c.3579G>T (p.Glu1193Asp)
c.2868G>T (p.Glu956Asp)
Xg.153954622C>GCA415119438HCFC1c.3777G>C (p.Glu1259Asp)
c.3579G>C (p.Glu1193Asp)
c.2868G>C (p.Glu956Asp)
Xg.153954622C>TCA519702273HCFC1c.3777G>A (p.Glu1259=)
c.3579G>A (p.Glu1193=)
c.2868G>A (p.Glu956=)
Xg.153954623T>ACA415119441HCFC1c.3776A>T (p.Glu1259Val)
c.3578A>T (p.Glu1193Val)
c.2867A>T (p.Glu956Val)
 dbSNP
Xg.153954623T>CCA415119444HCFC1c.3776A>G (p.Glu1259Gly)
c.3578A>G (p.Glu1193Gly)
c.2867A>G (p.Glu956Gly)
Xg.153954623T>GCA415119446HCFC1c.3776A>C (p.Glu1259Ala)
c.3578A>C (p.Glu1193Ala)
c.2867A>C (p.Glu956Ala)
Xg.153954623T=CA2466540208HCFC1c.3776A= (p.Glu1259=)
c.3578A= (p.Glu1193=)
c.2867A= (p.Glu956=)
Xg.153954624C>ACA415119448HCFC1c.3775G>T (p.Glu1259Ter)
c.3577G>T (p.Glu1193Ter)
c.2866G>T (p.Glu956Ter)
Xg.153954624C=CA2466540209HCFC1c.3775G= (p.Glu1259=)
c.3577G= (p.Glu1193=)
c.2866G= (p.Glu956=)
Xg.153954624C>GCA415119451HCFC1c.3775G>C (p.Glu1259Gln)
c.3577G>C (p.Glu1193Gln)
c.2866G>C (p.Glu956Gln)
 dbSNP
Xg.153954624C>TCA10557130HCFC1c.3775G>A (p.Glu1259Lys)
c.3577G>A (p.Glu1193Lys)
c.2866G>A (p.Glu956Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954625G>ACA519702281HCFC1c.3774C>T (p.Cys1258=)
c.3576C>T (p.Cys1192=)
c.2865C>T (p.Cys955=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.153954625G>CCA415119454HCFC1c.3774C>G (p.Cys1258Trp)
c.3576C>G (p.Cys1192Trp)
c.2865C>G (p.Cys955Trp)
Xg.153954625G=CA2466540210HCFC1c.3774C= (p.Cys1258=)
c.3576C= (p.Cys1192=)
c.2865C= (p.Cys955=)
Xg.153954625G>TCA415119456HCFC1c.3774C>A (p.Cys1258Ter)
c.3576C>A (p.Cys1192Ter)
c.2865C>A (p.Cys955Ter)
Xg.153954626C>ACA415119459HCFC1c.3773G>T (p.Cys1258Phe)
c.3575G>T (p.Cys1192Phe)
c.2864G>T (p.Cys955Phe)
Xg.153954626C>GCA415119462HCFC1c.3773G>C (p.Cys1258Ser)
c.3575G>C (p.Cys1192Ser)
c.2864G>C (p.Cys955Ser)
 COSMIC COSMIC
Xg.153954626C>TCA415119463HCFC1c.3773G>A (p.Cys1258Tyr)
c.3575G>A (p.Cys1192Tyr)
c.2864G>A (p.Cys955Tyr)
 gnomAD v4
Xg.153954627A>CCA415119465HCFC1c.3772T>G (p.Cys1258Gly)
c.3574T>G (p.Cys1192Gly)
c.2863T>G (p.Cys955Gly)
Xg.153954627A>GCA415119466HCFC1c.3772T>C (p.Cys1258Arg)
c.3574T>C (p.Cys1192Arg)
c.2863T>C (p.Cys955Arg)
Xg.153954627A>TCA415119468HCFC1c.3772T>A (p.Cys1258Ser)
c.3574T>A (p.Cys1192Ser)
c.2863T>A (p.Cys955Ser)
Xg.153954628C>ACA519702289HCFC1c.3771G>T (p.Val1257=)
c.3573G>T (p.Val1191=)
c.2862G>T (p.Val954=)
Xg.153954628C>GCA519702292HCFC1c.3771G>C (p.Val1257=)
c.3573G>C (p.Val1191=)
c.2862G>C (p.Val954=)
Xg.153954628C>TCA519702294HCFC1c.3771G>A (p.Val1257=)
c.3573G>A (p.Val1191=)
c.2862G>A (p.Val954=)
Xg.153954629A>CCA415119471HCFC1c.3770T>G (p.Val1257Gly)
c.3572T>G (p.Val1191Gly)
c.2861T>G (p.Val954Gly)
Xg.153954629A>GCA415119472HCFC1c.3770T>C (p.Val1257Ala)
c.3572T>C (p.Val1191Ala)
c.2861T>C (p.Val954Ala)
Xg.153954629A>TCA415119476HCFC1c.3770T>A (p.Val1257Glu)
c.3572T>A (p.Val1191Glu)
c.2861T>A (p.Val954Glu)
 COSMIC COSMIC
Xg.153954630C>ACA415119479HCFC1c.3769G>T (p.Val1257Leu)
c.3571G>T (p.Val1191Leu)
c.2860G>T (p.Val954Leu)
Xg.153954630C>GCA415119483HCFC1c.3769G>C (p.Val1257Leu)
c.3571G>C (p.Val1191Leu)
c.2860G>C (p.Val954Leu)
Xg.153954630C>TCA415119481HCFC1c.3769G>A (p.Val1257Met)
c.3571G>A (p.Val1191Met)
c.2860G>A (p.Val954Met)
Xg.153954631A>CCA519702299HCFC1c.3768T>G (p.Pro1256=)
c.3570T>G (p.Pro1190=)
c.2859T>G (p.Pro953=)
Xg.153954631A>GCA519702302HCFC1c.3768T>C (p.Pro1256=)
c.3570T>C (p.Pro1190=)
c.2859T>C (p.Pro953=)
 gnomAD v4
Xg.153954631A>TCA519702303HCFC1c.3768T>A (p.Pro1256=)
c.3570T>A (p.Pro1190=)
c.2859T>A (p.Pro953=)
Xg.153954632G>ACA415119487HCFC1c.3767C>T (p.Pro1256Leu)
c.3569C>T (p.Pro1190Leu)
c.2858C>T (p.Pro953Leu)
 ClinVar
Xg.153954632G>CCA10557131HCFC1c.3767C>G (p.Pro1256Arg)
c.3569C>G (p.Pro1190Arg)
c.2858C>G (p.Pro953Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954632G=CA2466540211HCFC1c.3767C= (p.Pro1256=)
c.3569C= (p.Pro1190=)
c.2858C= (p.Pro953=)
Xg.153954632G>TCA415119490HCFC1c.3767C>A (p.Pro1256His)
c.3569C>A (p.Pro1190His)
c.2858C>A (p.Pro953His)
Xg.153954633G>ACA10557132HCFC1c.3766C>T (p.Pro1256Ser)
c.3568C>T (p.Pro1190Ser)
c.2857C>T (p.Pro953Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153954633G>CCA415119495HCFC1c.3766C>G (p.Pro1256Ala)
c.3568C>G (p.Pro1190Ala)
c.2857C>G (p.Pro953Ala)
Xg.153954633G=CA2466540212HCFC1c.3766C= (p.Pro1256=)
c.3568C= (p.Pro1190=)
c.2857C= (p.Pro953=)
Xg.153954633G>TCA415119497HCFC1c.3766C>A (p.Pro1256Thr)
c.3568C>A (p.Pro1190Thr)
c.2857C>A (p.Pro953Thr)
Xg.153954634T>ACA519702310HCFC1c.3765A>T (p.Ala1255=)
c.3567A>T (p.Ala1189=)
c.2856A>T (p.Ala952=)
Xg.153954634T>CCA519702314HCFC1c.3765A>G (p.Ala1255=)
c.3567A>G (p.Ala1189=)
c.2856A>G (p.Ala952=)
 gnomAD v4
Xg.153954634T>GCA519702312HCFC1c.3765A>C (p.Ala1255=)
c.3567A>C (p.Ala1189=)
c.2856A>C (p.Ala952=)
Xg.153954635G>ACA415119498HCFC1c.3764C>T (p.Ala1255Val)
c.3566C>T (p.Ala1189Val)
c.2855C>T (p.Ala952Val)
Xg.153954635G>CCA415119501HCFC1c.3764C>G (p.Ala1255Gly)
c.3566C>G (p.Ala1189Gly)
c.2855C>G (p.Ala952Gly)
Xg.153954635G>TCA415119508HCFC1c.3764C>A (p.Ala1255Glu)
c.3566C>A (p.Ala1189Glu)
c.2855C>A (p.Ala952Glu)
Xg.153954636C>ACA415119513HCFC1c.3763G>T (p.Ala1255Ser)
c.3565G>T (p.Ala1189Ser)
c.2854G>T (p.Ala952Ser)
Xg.153954636C>GCA415119515HCFC1c.3763G>C (p.Ala1255Pro)
c.3565G>C (p.Ala1189Pro)
c.2854G>C (p.Ala952Pro)
Xg.153954636C>TCA415119517HCFC1c.3763G>A (p.Ala1255Thr)
c.3565G>A (p.Ala1189Thr)
c.2854G>A (p.Ala952Thr)
Xg.153954637C>ACA415119521HCFC1c.3762G>T (p.Met1254Ile)
c.3564G>T (p.Met1188Ile)
c.2853G>T (p.Met951Ile)
Xg.153954637C=CA2466540213HCFC1c.3762G= (p.Met1254=)
c.3564G= (p.Met1188=)
c.2853G= (p.Met951=)
Xg.153954637C>GCA415119523HCFC1c.3762G>C (p.Met1254Ile)
c.3564G>C (p.Met1188Ile)
c.2853G>C (p.Met951Ile)
Xg.153954637C>TCA415119525HCFC1c.3762G>A (p.Met1254Ile)
c.3564G>A (p.Met1188Ile)
c.2853G>A (p.Met951Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954638A>CCA415119532HCFC1c.3761T>G (p.Met1254Arg)
c.3563T>G (p.Met1188Arg)
c.2852T>G (p.Met951Arg)
Xg.153954638A>GCA415119529HCFC1c.3761T>C (p.Met1254Thr)
c.3563T>C (p.Met1188Thr)
c.2852T>C (p.Met951Thr)
Xg.153954638A>TCA415119528HCFC1c.3761T>A (p.Met1254Lys)
c.3563T>A (p.Met1188Lys)
c.2852T>A (p.Met951Lys)
Xg.153954639T>ACA415119534HCFC1c.3760A>T (p.Met1254Leu)
c.3562A>T (p.Met1188Leu)
c.2851A>T (p.Met951Leu)
Xg.153954639T>CCA10557133HCFC1c.3760A>G (p.Met1254Val)
c.3562A>G (p.Met1188Val)
c.2851A>G (p.Met951Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954639T>GCA415119538HCFC1c.3760A>C (p.Met1254Leu)
c.3562A>C (p.Met1188Leu)
c.2851A>C (p.Met951Leu)
Xg.153954639T=CA2466540214HCFC1c.3760A= (p.Met1254=)
c.3562A= (p.Met1188=)
c.2851A= (p.Met951=)
Xg.153954640G>ACA519702329HCFC1c.3759C>T (p.Arg1253=)
c.3561C>T (p.Arg1187=)
c.2850C>T (p.Arg950=)
Xg.153954640G>CCA519702330HCFC1c.3759C>G (p.Arg1253=)
c.3561C>G (p.Arg1187=)
c.2850C>G (p.Arg950=)
Xg.153954640G>TCA519702332HCFC1c.3759C>A (p.Arg1253=)
c.3561C>A (p.Arg1187=)
c.2850C>A (p.Arg950=)
Xg.153954641C>ACA10557135HCFC1c.3758G>T (p.Arg1253Leu)
c.3560G>T (p.Arg1187Leu)
c.2849G>T (p.Arg950Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153954641C=CA2466540215HCFC1c.3758G= (p.Arg1253=)
c.3560G= (p.Arg1187=)
c.2849G= (p.Arg950=)
Xg.153954641C>GCA10557136HCFC1c.3758G>C (p.Arg1253Pro)
c.3560G>C (p.Arg1187Pro)
c.2849G>C (p.Arg950Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153954641C>TCA10557134HCFC1c.3758G>A (p.Arg1253His)
c.3560G>A (p.Arg1187His)
c.2849G>A (p.Arg950His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954642G>ACA10557137HCFC1c.3757C>T (p.Arg1253Cys)
c.3559C>T (p.Arg1187Cys)
c.2848C>T (p.Arg950Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954642G>CCA415119547HCFC1c.3757C>G (p.Arg1253Gly)
c.3559C>G (p.Arg1187Gly)
c.2848C>G (p.Arg950Gly)
Xg.153954642G=CA2466540216HCFC1c.3757C= (p.Arg1253=)
c.3559C= (p.Arg1187=)
c.2848C= (p.Arg950=)
Xg.153954642G>TCA415119549HCFC1c.3757C>A (p.Arg1253Ser)
c.3559C>A (p.Arg1187Ser)
c.2848C>A (p.Arg950Ser)
Xg.153954643G>ACA519702342HCFC1c.3756C>T (p.Pro1252=)
c.3558C>T (p.Pro1186=)
c.2847C>T (p.Pro949=)
Xg.153954643G>CCA519702341HCFC1c.3756C>G (p.Pro1252=)
c.3558C>G (p.Pro1186=)
c.2847C>G (p.Pro949=)
 gnomAD v4
Xg.153954643G>TCA519702340HCFC1c.3756C>A (p.Pro1252=)
c.3558C>A (p.Pro1186=)
c.2847C>A (p.Pro949=)
 ClinVar gnomAD v4
Xg.153954644G>ACA415119551HCFC1c.3755C>T (p.Pro1252Leu)
c.3557C>T (p.Pro1186Leu)
c.2846C>T (p.Pro949Leu)
Xg.153954644G>CCA415119553HCFC1c.3755C>G (p.Pro1252Arg)
c.3557C>G (p.Pro1186Arg)
c.2846C>G (p.Pro949Arg)
 dbSNP gnomAD v2 gnomAD v4
Xg.153954644G=CA2466540217HCFC1c.3755C= (p.Pro1252=)
c.3557C= (p.Pro1186=)
c.2846C= (p.Pro949=)
Xg.153954644G>TCA415119556HCFC1c.3755C>A (p.Pro1252His)
c.3557C>A (p.Pro1186His)
c.2846C>A (p.Pro949His)
Xg.153954645G>ACA10557138HCFC1c.3754C>T (p.Pro1252Ser)
c.3556C>T (p.Pro1186Ser)
c.2845C>T (p.Pro949Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153954645G>CCA415119562HCFC1c.3754C>G (p.Pro1252Ala)
c.3556C>G (p.Pro1186Ala)
c.2845C>G (p.Pro949Ala)
Xg.153954645G=CA2466540218HCFC1c.3754C= (p.Pro1252=)
c.3556C= (p.Pro1186=)
c.2845C= (p.Pro949=)
Xg.153954645G>TCA415119561HCFC1c.3754C>A (p.Pro1252Thr)
c.3556C>A (p.Pro1186Thr)
c.2845C>A (p.Pro949Thr)
Xg.153954646C>ACA415119564HCFC1c.3753G>T (p.Glu1251Asp)
c.3555G>T (p.Glu1185Asp)
c.2844G>T (p.Glu948Asp)
Xg.153954646C>GCA415119566HCFC1c.3753G>C (p.Glu1251Asp)
c.3555G>C (p.Glu1185Asp)
c.2844G>C (p.Glu948Asp)
Xg.153954646C>TCA519702349HCFC1c.3753G>A (p.Glu1251=)
c.3555G>A (p.Glu1185=)
c.2844G>A (p.Glu948=)
Xg.153954647T>ACA415119569HCFC1c.3752A>T (p.Glu1251Val)
c.3554A>T (p.Glu1185Val)
c.2843A>T (p.Glu948Val)
Xg.153954647T>CCA415119571HCFC1c.3752A>G (p.Glu1251Gly)
c.3554A>G (p.Glu1185Gly)
c.2843A>G (p.Glu948Gly)
 ClinVar
Xg.153954647T>GCA415119572HCFC1c.3752A>C (p.Glu1251Ala)
c.3554A>C (p.Glu1185Ala)
c.2843A>C (p.Glu948Ala)

Number of alleles fetched