Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.48688819_48688825delCA2693644713WASn.335_341del
c.1091_1097del (p.Arg364ProfsTer?)
c.935_941del (p.Arg312ProfsTer?)
 gnomAD v4
Xg.48688820delCA2695233774WASn.336del
c.1092del (p.Gly366AlafsTer?)
c.936del (p.Gly314AlafsTer?)
Xg.48688820A>CCA516356408WASn.336A>C
c.1092A>C (p.Arg364=)
c.936A>C (p.Arg312=)
 ClinVar gnomAD v4
Xg.48688820A>GCA516356410WASn.336A>G
c.1092A>G (p.Arg364=)
c.936A>G (p.Arg312=)
 gnomAD v4
Xg.48688820A>TCA516356409WASn.336A>T
c.1092A>T (p.Arg364=)
c.936A>T (p.Arg312=)
 gnomAD v4
Xg.48688820_48688821delinsAGCA2428355693WASn.336_337delinsAG
c.1092_1093delinsAG (p.Arg364=)
c.936_937delinsAG (p.Arg312=)
Xg.48688821G>ACA412873271WASn.337G>A
c.1093G>A (p.Gly365Arg)
c.937G>A (p.Gly313Arg)
Xg.48688821G>CCA412873272WASn.337G>C
c.1093G>C (p.Gly365Arg)
c.937G>C (p.Gly313Arg)
Xg.48688821G>TCA412873273WASn.337G>T
c.1093G>T (p.Gly365Trp)
c.937G>T (p.Gly313Trp)
Xg.48688825dupCA2693644719WASn.341dup
c.1097dup (p.Pro368SerfsTer?)
c.941dup (p.Pro316SerfsTer?)
 gnomAD v4
Xg.48688825delCA341014WASn.341del
c.1097del (p.Gly366AlafsTer?)
c.941del (p.Gly314AlafsTer?)
 ClinVar dbSNP
Xg.48688822G>ACA412873278WASn.338G>A
c.1094G>A (p.Gly365Glu)
c.938G>A (p.Gly313Glu)
 gnomAD v4
Xg.48688822G>CCA412873277WASn.338G>C
c.1094G>C (p.Gly365Ala)
c.938G>C (p.Gly313Ala)
Xg.48688822G>TCA412873276WASn.338G>T
c.1094G>T (p.Gly365Val)
c.938G>T (p.Gly313Val)
 gnomAD v4
Xg.48688823G>ACA516356413WASn.339G>A
c.1095G>A (p.Gly365=)
c.939G>A (p.Gly313=)
 dbSNP gnomAD v4
Xg.48688823G>CCA516356414WASn.339G>C
c.1095G>C (p.Gly365=)
c.939G>C (p.Gly313=)
Xg.48688823G=CA2428355694WASn.339G=
c.1095G= (p.Gly365=)
c.939G= (p.Gly313=)
Xg.48688823G>TCA516356415WASn.339G>T
c.1095G>T (p.Gly365=)
c.939G>T (p.Gly313=)
 gnomAD v4
Xg.48688824G>ACA412873279WASn.340G>A
c.1096G>A (p.Gly366Ser)
c.940G>A (p.Gly314Ser)
 gnomAD v4
Xg.48688824G>CCA412873280WASn.340G>C
c.1096G>C (p.Gly366Arg)
c.940G>C (p.Gly314Arg)
Xg.48688824G>TCA412873281WASn.340G>T
c.1096G>T (p.Gly366Cys)
c.940G>T (p.Gly314Cys)
Xg.48688825G>ACA412873282WASn.341G>A
c.1097G>A (p.Gly366Asp)
c.941G>A (p.Gly314Asp)
 dbSNP gnomAD v4
Xg.48688825G>CCA412873283WASn.341G>C
c.1097G>C (p.Gly366Ala)
c.941G>C (p.Gly314Ala)
 gnomAD v4
Xg.48688825G=CA2428355695WASn.341G=
c.1097G= (p.Gly366=)
c.941G= (p.Gly314=)
Xg.48688825G>TCA412873284WASn.341G>T
c.1097G>T (p.Gly366Val)
c.941G>T (p.Gly314Val)
Xg.48688826C>ACA516356419WASn.342C>A
c.1098C>A (p.Gly366=)
c.942C>A (p.Gly314=)
 gnomAD v4
Xg.48688826C>GCA516356420WASn.342C>G
c.1098C>G (p.Gly366=)
c.942C>G (p.Gly314=)
 gnomAD v4
Xg.48688826C>TCA516356421WASn.342C>T
c.1098C>T (p.Gly366=)
c.942C>T (p.Gly314=)
 gnomAD v4
Xg.48688828_48688829insCCCCCCCA2693644729WASn.344_345insCCCCCC
c.1100_1101insCCCCCC (p.Pro367_Pro368insProPro)
c.944_945insCCCCCC (p.Pro315_Pro316insProPro)
 gnomAD v4
Xg.48688827C>ACA412873285WASn.343C>A
c.1099C>A (p.Pro367Thr)
c.943C>A (p.Pro315Thr)
 gnomAD v4
Xg.48688827C>GCA412873286WASn.343C>G
c.1099C>G (p.Pro367Ala)
c.943C>G (p.Pro315Ala)
Xg.48688827C>TCA412873287WASn.343C>T
c.1099C>T (p.Pro367Ser)
c.943C>T (p.Pro315Ser)
 gnomAD v4
Xg.48688829_48688831delCA2579600722WASn.345_347del
c.1101_1103del (p.Pro368del)
c.945_947del (p.Pro316del)
Xg.48688828C>ACA412873288WASn.344C>A
c.1100C>A (p.Pro367His)
c.944C>A (p.Pro315His)
 gnomAD v4
Xg.48688828C>GCA412873289WASn.344C>G
c.1100C>G (p.Pro367Arg)
c.944C>G (p.Pro315Arg)
Xg.48688828C>TCA412873290WASn.344C>T
c.1100C>T (p.Pro367Leu)
c.944C>T (p.Pro315Leu)
Xg.48688829T>ACA516356423WASn.345T>A
c.1101T>A (p.Pro367=)
c.945T>A (p.Pro315=)
 dbSNP gnomAD v3 gnomAD v4
Xg.48688829T>CCA516356424WASn.345T>C
c.1101T>C (p.Pro367=)
c.945T>C (p.Pro315=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.48688829T>GCA516356425WASn.345T>G
c.1101T>G (p.Pro367=)
c.945T>G (p.Pro315=)
 ClinVar
Xg.48688829T=CA2428355697WASn.345T=
c.1101T= (p.Pro367=)
c.945T= (p.Pro315=)
Xg.48688829_48688832delinsTCCACA2428355696WASn.345_348delinsTCCA
c.1101_1104delinsTCCA (p.Pro367=)
c.945_948delinsTCCA (p.Pro315=)
Xg.48688830C>ACA412873291WASn.346C>A
c.1102C>A (p.Pro368Thr)
c.946C>A (p.Pro316Thr)
 gnomAD v4
Xg.48688830C>GCA412873292WASn.346C>G
c.1102C>G (p.Pro368Ala)
c.946C>G (p.Pro316Ala)
Xg.48688830C>TCA412873293WASn.346C>T
c.1102C>T (p.Pro368Ser)
c.946C>T (p.Pro316Ser)
 gnomAD v4
Xg.48688838_48688840delCA641901739WASn.354_356del
c.1110_1112del (p.Pro371del)
c.954_956del (p.Pro319del)
 dbSNP gnomAD v2 gnomAD v4
Xg.48688838_48688918delCA2693644735WASn.354_434del
c.1110_1190del (p.Pro371_Pro397del)
c.954_1034del (p.Pro319_Pro345del)
 gnomAD v4
Xg.48688838_48688927delCA2693644759WASn.354_443del
c.1110_1199del (p.Pro371_Pro400del)
c.954_1043del (p.Pro319_Pro348del)
 gnomAD v4
Xg.48688831C>ACA412873294WASn.347C>A
c.1103C>A (p.Pro368Gln)
c.947C>A (p.Pro316Gln)
 gnomAD v4
Xg.48688831C>GCA412873296WASn.347C>G
c.1103C>G (p.Pro368Arg)
c.947C>G (p.Pro316Arg)
Xg.48688831C>TCA412873295WASn.347C>T
c.1103C>T (p.Pro368Leu)
c.947C>T (p.Pro316Leu)
 gnomAD v4
Xg.48688832A=CA2428355698WASn.348A=
c.1104A= (p.Pro368=)
c.948A= (p.Pro316=)
Xg.48688832A>CCA516356428WASn.348A>C
c.1104A>C (p.Pro368=)
c.948A>C (p.Pro316=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.48688832A>GCA516356429WASn.348A>G
c.1104A>G (p.Pro368=)
c.948A>G (p.Pro316=)
Xg.48688832A>TCA516356430WASn.348A>T
c.1104A>T (p.Pro368=)
c.948A>T (p.Pro316=)
 gnomAD v4
Xg.48688833C>ACA412873297WASn.349C>A
c.1105C>A (p.Pro369Thr)
c.949C>A (p.Pro317Thr)
 gnomAD v4
Xg.48688833C=CA2428355699WASn.349C=
c.1105C= (p.Pro369=)
c.949C= (p.Pro317=)
Xg.48688833C>GCA412873298WASn.349C>G
c.1105C>G (p.Pro369Ala)
c.949C>G (p.Pro317Ala)
 dbSNP gnomAD v2
Xg.48688833C>TCA412873299WASn.349C>T
c.1105C>T (p.Pro369Ser)
c.949C>T (p.Pro317Ser)
 gnomAD v4
Xg.48688834C>ACA412873300WASn.350C>A
c.1106C>A (p.Pro369Gln)
c.950C>A (p.Pro317Gln)
 gnomAD v4
Xg.48688834C=CA2428355700WASn.350C=
c.1106C= (p.Pro369=)
c.950C= (p.Pro317=)
Xg.48688834C>GCA412873301WASn.350C>G
c.1106C>G (p.Pro369Arg)
c.950C>G (p.Pro317Arg)
Xg.48688834C>TCA412873303WASn.350C>T
c.1106C>T (p.Pro369Leu)
c.950C>T (p.Pro317Leu)
 dbSNP gnomAD v2 gnomAD v4
Xg.48688835A=CA2428355701WASn.351A=
c.1107A= (p.Pro369=)
c.951A= (p.Pro317=)
Xg.48688835A>CCA516356434WASn.351A>C
c.1107A>C (p.Pro369=)
c.951A>C (p.Pro317=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
Xg.48688835A>GCA10404036WASn.351A>G
c.1107A>G (p.Pro369=)
c.951A>G (p.Pro317=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688835A>TCA516356435WASn.351A>T
c.1107A>T (p.Pro369=)
c.951A>T (p.Pro317=)
Xg.48688836C>ACA412873304WASn.352C>A
c.1108C>A (p.Pro370Thr)
c.952C>A (p.Pro318Thr)
 gnomAD v4
Xg.48688836C>GCA412873305WASn.352C>G
c.1108C>G (p.Pro370Ala)
c.952C>G (p.Pro318Ala)
Xg.48688836C>TCA412873306WASn.352C>T
c.1108C>T (p.Pro370Ser)
c.952C>T (p.Pro318Ser)
 gnomAD v4
Xg.48688837C>ACA412873308WASn.353C>A
c.1109C>A (p.Pro370Gln)
c.953C>A (p.Pro318Gln)
 gnomAD v4
Xg.48688837C=CA2428355702WASn.353C=
c.1109C= (p.Pro370=)
c.953C= (p.Pro318=)
Xg.48688837C>GCA412873309WASn.353C>G
c.1109C>G (p.Pro370Arg)
c.953C>G (p.Pro318Arg)
Xg.48688837C>TCA412873307WASn.353C>T
c.1109C>T (p.Pro370Leu)
c.953C>T (p.Pro318Leu)
 dbSNP gnomAD v2 gnomAD v4
Xg.48688838delCA2695233775WASn.354del
c.1110del (p.Pro372LeufsTer?)
c.954del (p.Pro320LeufsTer?)
Xg.48688838A=CA2428355703WASn.354A=
c.1110A= (p.Pro370=)
c.954A= (p.Pro318=)
Xg.48688838A>CCA10404037WASn.354A>C
c.1110A>C (p.Pro370=)
c.954A>C (p.Pro318=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688838A>GCA516356441WASn.354A>G
c.1110A>G (p.Pro370=)
c.954A>G (p.Pro318=)
Xg.48688838A>TCA516356439WASn.354A>T
c.1110A>T (p.Pro370=)
c.954A>T (p.Pro318=)
Xg.48688839C>ACA412873310WASn.355C>A
c.1111C>A (p.Pro371Thr)
c.955C>A (p.Pro319Thr)
 dbSNP gnomAD v3 gnomAD v4
Xg.48688839C=CA2428355704WASn.355C=
c.1111C= (p.Pro371=)
c.955C= (p.Pro319=)
Xg.48688839C>GCA412873311WASn.355C>G
c.1111C>G (p.Pro371Ala)
c.955C>G (p.Pro319Ala)
 gnomAD v4
Xg.48688839C>TCA412873312WASn.355C>T
c.1111C>T (p.Pro371Ser)
c.955C>T (p.Pro319Ser)
Xg.48688843delCA2554499492WASn.359del
c.1115del (p.Pro372LeufsTer?)
c.959del (p.Pro320LeufsTer?)
 gnomAD v4
Xg.48688841_48688843delCA2693644793WASn.357_359del
c.1113_1115del (p.Pro372del)
c.957_959del (p.Pro320del)
 gnomAD v4
Xg.48688840C>ACA412873313WASn.356C>A
c.1112C>A (p.Pro371His)
c.956C>A (p.Pro319His)
 gnomAD v4
Xg.48688840C=CA2428355705WASn.356C=
c.1112C= (p.Pro371=)
c.956C= (p.Pro319=)
Xg.48688840C>GCA412873314WASn.356C>G
c.1112C>G (p.Pro371Arg)
c.956C>G (p.Pro319Arg)
Xg.48688840C>TCA412873315WASn.356C>T
c.1112C>T (p.Pro371Leu)
c.956C>T (p.Pro319Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688841C>ACA516356444WASn.357C>A
c.1113C>A (p.Pro371=)
c.957C>A (p.Pro319=)
 gnomAD v4
Xg.48688841C=CA2428355706WASn.357C=
c.1113C= (p.Pro371=)
c.957C= (p.Pro319=)
Xg.48688841C>GCA516356445WASn.357C>G
c.1113C>G (p.Pro371=)
c.957C>G (p.Pro319=)
 gnomAD v4
Xg.48688841C>TCA516356447WASn.357C>T
c.1113C>T (p.Pro371=)
c.957C>T (p.Pro319=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688842C>ACA412873316WASn.358C>A
c.1114C>A (p.Pro372Thr)
c.958C>A (p.Pro320Thr)
Xg.48688842C>GCA412873317WASn.358C>G
c.1114C>G (p.Pro372Ala)
c.958C>G (p.Pro320Ala)
Xg.48688842C>TCA412873318WASn.358C>T
c.1114C>T (p.Pro372Ser)
c.958C>T (p.Pro320Ser)
Xg.48688843C>ACA412873319WASn.359C>A
c.1115C>A (p.Pro372His)
c.959C>A (p.Pro320His)
 gnomAD v4
Xg.48688843C=CA2428355707WASn.359C=
c.1115C= (p.Pro372=)
c.959C= (p.Pro320=)
Xg.48688843C>GCA412873320WASn.359C>G
c.1115C>G (p.Pro372Arg)
c.959C>G (p.Pro320Arg)
Xg.48688843C>TCA10404038WASn.359C>T
c.1115C>T (p.Pro372Leu)
c.959C>T (p.Pro320Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48688844delCA2695233776WASn.360del
c.1116del (p.Pro373GlnfsTer?)
c.960del (p.Pro321GlnfsTer?)
Xg.48688844T>ACA516356450WASn.360T>A
c.1116T>A (p.Pro372=)
c.960T>A (p.Pro320=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.48688844T>CCA516356452WASn.360T>C
c.1116T>C (p.Pro372=)
c.960T>C (p.Pro320=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.48688844T>GCA516356454WASn.360T>G
c.1116T>G (p.Pro372=)
c.960T>G (p.Pro320=)
 gnomAD v4
Xg.48688844T=CA2428355708WASn.360T=
c.1116T= (p.Pro372=)
c.960T= (p.Pro320=)
Xg.48688845C>ACA412873323WASn.361C>A
c.1117C>A (p.Pro373Thr)
c.961C>A (p.Pro321Thr)
 gnomAD v4
Xg.48688845C=CA2428355709WASn.361C=
c.1117C= (p.Pro373=)
c.961C= (p.Pro321=)
Xg.48688845C>GCA412873322WASn.361C>G
c.1117C>G (p.Pro373Ala)
c.961C>G (p.Pro321Ala)
Xg.48688845C>TCA412873321WASn.361C>T
c.1117C>T (p.Pro373Ser)
c.961C>T (p.Pro321Ser)
 dbSNP gnomAD v2 gnomAD v4
Xg.48688846C>ACA412873324WASn.362C>A
c.1118C>A (p.Pro373Gln)
c.962C>A (p.Pro321Gln)
 gnomAD v4
Xg.48688846C=CA2428355710WASn.362C=
c.1118C= (p.Pro373=)
c.962C= (p.Pro321=)
Xg.48688846C>GCA412873325WASn.362C>G
c.1118C>G (p.Pro373Arg)
c.962C>G (p.Pro321Arg)
Xg.48688846C>TCA412873326WASn.362C>T
c.1118C>T (p.Pro373Leu)
c.962C>T (p.Pro321Leu)
 dbSNP gnomAD v4
Xg.48688847A=CA2428355711WASn.363A=
c.1119A= (p.Pro373=)
c.963A= (p.Pro321=)
Xg.48688847A>CCA516356231WASn.363A>C
c.1119A>C (p.Pro373=)
c.963A>C (p.Pro321=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.48688847A>GCA516356233WASn.363A>G
c.1119A>G (p.Pro373=)
c.963A>G (p.Pro321=)
 gnomAD v4
Xg.48688847A>TCA516356234WASn.363A>T
c.1119A>T (p.Pro373=)
c.963A>T (p.Pro321=)
Xg.48688847dupCA2580101062WASn.363dup
c.1119dup (p.Ala374SerfsTer?)
c.963dup (p.Ala322SerfsTer?)
 ClinVar
Xg.48688848G>ACA10404039WASn.364G>A
c.1120G>A (p.Ala374Thr)
c.964G>A (p.Ala322Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688848G>CCA412873327WASn.364G>C
c.1120G>C (p.Ala374Pro)
c.964G>C (p.Ala322Pro)
 gnomAD v4
Xg.48688848G=CA2428355712WASn.364G=
c.1120G= (p.Ala374=)
c.964G= (p.Ala322=)
Xg.48688848G>TCA412873328WASn.364G>T
c.1120G>T (p.Ala374Ser)
c.964G>T (p.Ala322Ser)
 gnomAD v4
Xg.48688849_48688855delCA2695233777WASn.365_371del
c.1121_1127del (p.Ala374AspfsTer?)
c.965_971del (p.Ala322AspfsTer?)
Xg.48688849C>ACA412873329WASn.365C>A
c.1121C>A (p.Ala374Asp)
c.965C>A (p.Ala322Asp)
 dbSNP gnomAD v4
Xg.48688849C=CA2428355713WASn.365C=
c.1121C= (p.Ala374=)
c.965C= (p.Ala322=)
Xg.48688849C>GCA412873330WASn.365C>G
c.1121C>G (p.Ala374Gly)
c.965C>G (p.Ala322Gly)
Xg.48688849C>TCA412873331WASn.365C>T
c.1121C>T (p.Ala374Val)
c.965C>T (p.Ala322Val)
Xg.48688850T>ACA516356235WASn.366T>A
c.1122T>A (p.Ala374=)
c.966T>A (p.Ala322=)
Xg.48688850T>CCA10404040WASn.366T>C
c.1122T>C (p.Ala374=)
c.966T>C (p.Ala322=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688850T>GCA516356236WASn.366T>G
c.1122T>G (p.Ala374=)
c.966T>G (p.Ala322=)
 ClinVar
Xg.48688850T=CA2428355714WASn.366T=
c.1122T= (p.Ala374=)
c.966T= (p.Ala322=)
Xg.48688851A>CCA412873332WASn.367A>C
c.1123A>C (p.Thr375Pro)
c.967A>C (p.Thr323Pro)
Xg.48688851A>GCA412873333WASn.367A>G
c.1123A>G (p.Thr375Ala)
c.967A>G (p.Thr323Ala)
 gnomAD v4
Xg.48688851A>TCA412873334WASn.367A>T
c.1123A>T (p.Thr375Ser)
c.967A>T (p.Thr323Ser)
Xg.48688853_48688857delCA2695233778WASn.369_373del
c.1125_1129del (p.Gly376PhefsTer?)
c.969_973del (p.Gly324PhefsTer?)
Xg.48688852delCA2695233779WASn.368del
c.1124del (p.Thr375MetfsTer?)
c.968del (p.Thr323MetfsTer?)
Xg.48688852C>ACA412873337WASn.368C>A
c.1124C>A (p.Thr375Asn)
c.968C>A (p.Thr323Asn)
 gnomAD v4
Xg.48688852C>GCA412873336WASn.368C>G
c.1124C>G (p.Thr375Ser)
c.968C>G (p.Thr323Ser)
Xg.48688852C>TCA412873335WASn.368C>T
c.1124C>T (p.Thr375Ile)
c.968C>T (p.Thr323Ile)
Xg.48688853delCA2579600723WASn.369del
c.1125del (p.Gly376AspfsTer?)
c.969del (p.Gly324AspfsTer?)
Xg.48688853T>ACA516356238WASn.369T>A
c.1125T>A (p.Thr375=)
c.969T>A (p.Thr323=)
 ClinVar gnomAD v4
Xg.48688853T>CCA516356240WASn.369T>C
c.1125T>C (p.Thr375=)
c.969T>C (p.Thr323=)
 gnomAD v4
Xg.48688853T>GCA516356241WASn.369T>G
c.1125T>G (p.Thr375=)
c.969T>G (p.Thr323=)
 ClinVar
Xg.48688854G>ACA412873338WASn.370G>A
c.1126G>A (p.Gly376Arg)
c.970G>A (p.Gly324Arg)
 gnomAD v4
Xg.48688854G>CCA412873340WASn.370G>C
c.1126G>C (p.Gly376Arg)
c.970G>C (p.Gly324Arg)
Xg.48688854G=CA2428355715WASn.370G=
c.1126G= (p.Gly376=)
c.970G= (p.Gly324=)
Xg.48688854G>TCA412873339WASn.370G>T
c.1126G>T (p.Gly376Ter)
c.970G>T (p.Gly324Ter)
 dbSNP gnomAD v2 gnomAD v4
Xg.48688855delCA2579600724WASn.371del
c.1127del (p.Gly376AspfsTer?)
c.971del (p.Gly324AspfsTer?)
Xg.48688855G>ACA412873341WASn.371G>A
c.1127G>A (p.Gly376Glu)
c.971G>A (p.Gly324Glu)
 dbSNP gnomAD v2 gnomAD v4
Xg.48688855G>CCA412873343WASn.371G>C
c.1127G>C (p.Gly376Ala)
c.971G>C (p.Gly324Ala)
Xg.48688855G=CA2428355716WASn.371G=
c.1127G= (p.Gly376=)
c.971G= (p.Gly324=)
Xg.48688855G>TCA412873342WASn.371G>T
c.1127G>T (p.Gly376Val)
c.971G>T (p.Gly324Val)
 gnomAD v4
Xg.48688856A>CCA516356242WASn.372A>C
c.1128A>C (p.Gly376=)
c.972A>C (p.Gly324=)
Xg.48688856A>GCA516356244WASn.372A>G
c.1128A>G (p.Gly376=)
c.972A>G (p.Gly324=)
 ClinVar gnomAD v4
Xg.48688856A>TCA516356246WASn.372A>T
c.1128A>T (p.Gly376=)
c.972A>T (p.Gly324=)
 gnomAD v4
Xg.48688857C>ACA412873344WASn.373C>A
c.1129C>A (p.Arg377Ser)
c.973C>A (p.Arg325Ser)
 gnomAD v4
Xg.48688857C=CA2428355717WASn.373C=
c.1129C= (p.Arg377=)
c.973C= (p.Arg325=)
Xg.48688857C>GCA412873345WASn.373C>G
c.1129C>G (p.Arg377Gly)
c.973C>G (p.Arg325Gly)
Xg.48688857C>TCA412873346WASn.373C>T
c.1129C>T (p.Arg377Cys)
c.973C>T (p.Arg325Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688858G>ACA329102263WASn.374G>A
c.1130G>A (p.Arg377His)
c.974G>A (p.Arg325His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688858G>CCA412873347WASn.374G>C
c.1130G>C (p.Arg377Pro)
c.974G>C (p.Arg325Pro)
Xg.48688858G=CA2428355718WASn.374G=
c.1130G= (p.Arg377=)
c.974G= (p.Arg325=)
Xg.48688858G>TCA412873348WASn.374G>T
c.1130G>T (p.Arg377Leu)
c.974G>T (p.Arg325Leu)
 gnomAD v4
Xg.48688859T>ACA516356248WASn.375T>A
c.1131T>A (p.Arg377=)
c.975T>A (p.Arg325=)
Xg.48688859T>CCA516356249WASn.375T>C
c.1131T>C (p.Arg377=)
c.975T>C (p.Arg325=)
 gnomAD v4
Xg.48688859T>GCA516356250WASn.375T>G
c.1131T>G (p.Arg377=)
c.975T>G (p.Arg325=)
 ClinVar gnomAD v4
Xg.48688860T>ACA412873351WASn.376T>A
c.1132T>A (p.Ser378Thr)
c.976T>A (p.Ser326Thr)
Xg.48688860T>CCA412873350WASn.376T>C
c.1132T>C (p.Ser378Pro)
c.976T>C (p.Ser326Pro)
Xg.48688860T>GCA412873349WASn.376T>G
c.1132T>G (p.Ser378Ala)
c.976T>G (p.Ser326Ala)
Xg.48688861C>ACA412873352WASn.377C>A
c.1133C>A (p.Ser378Tyr)
c.977C>A (p.Ser326Tyr)
 gnomAD v4
Xg.48688861C>GCA412873353WASn.377C>G
c.1133C>G (p.Ser378Cys)
c.977C>G (p.Ser326Cys)
Xg.48688861C>TCA412873354WASn.377C>T
c.1133C>T (p.Ser378Phe)
c.977C>T (p.Ser326Phe)
Xg.48688862T>ACA516356253WASn.378T>A
c.1134T>A (p.Ser378=)
c.978T>A (p.Ser326=)
Xg.48688862T>CCA516356254WASn.378T>C
c.1134T>C (p.Ser378=)
c.978T>C (p.Ser326=)
 gnomAD v4
Xg.48688862T>GCA516356252WASn.378T>G
c.1134T>G (p.Ser378=)
c.978T>G (p.Ser326=)
 ClinVar
Xg.48688863G>ACA412873355WASn.379G>A
c.1135G>A (p.Gly379Arg)
c.979G>A (p.Gly327Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.48688863G>CCA412873356WASn.379G>C
c.1135G>C (p.Gly379Arg)
c.979G>C (p.Gly327Arg)
Xg.48688863G=CA2428355719WASn.379G=
c.1135G= (p.Gly379=)
c.979G= (p.Gly327=)
Xg.48688863G>TCA412873357WASn.379G>T
c.1135G>T (p.Gly379Ter)
c.979G>T (p.Gly327Ter)
 gnomAD v4
Xg.48688864G>ACA412873358WASn.380G>A
c.1136G>A (p.Gly379Glu)
c.980G>A (p.Gly327Glu)
 gnomAD v4
Xg.48688864G>CCA412873360WASn.380G>C
c.1136G>C (p.Gly379Ala)
c.980G>C (p.Gly327Ala)
Xg.48688864G>TCA412873359WASn.380G>T
c.1136G>T (p.Gly379Val)
c.980G>T (p.Gly327Val)
 gnomAD v4
Xg.48688865A=CA2428355720WASn.381A=
c.1137A= (p.Gly379=)
c.981A= (p.Gly327=)
Xg.48688865A>CCA516356256WASn.381A>C
c.1137A>C (p.Gly379=)
c.981A>C (p.Gly327=)
 dbSNP
Xg.48688865A>GCA516356257WASn.381A>G
c.1137A>G (p.Gly379=)
c.981A>G (p.Gly327=)
 gnomAD v4
Xg.48688865A>TCA516356258WASn.381A>T
c.1137A>T (p.Gly379=)
c.981A>T (p.Gly327=)
 dbSNP
Xg.48688866C>ACA412873361WASn.382C>A
c.1138C>A (p.Pro380Thr)
c.982C>A (p.Pro328Thr)
 gnomAD v4
Xg.48688866C>GCA412873362WASn.382C>G
c.1138C>G (p.Pro380Ala)
c.982C>G (p.Pro328Ala)
Xg.48688866C>TCA412873363WASn.382C>T
c.1138C>T (p.Pro380Ser)
c.982C>T (p.Pro328Ser)
 gnomAD v4
Xg.48688867C>ACA412873364WASn.383C>A
c.1139C>A (p.Pro380Gln)
c.983C>A (p.Pro328Gln)
 gnomAD v4
Xg.48688867C=CA2428355721WASn.383C=
c.1139C= (p.Pro380=)
c.983C= (p.Pro328=)
Xg.48688867C>GCA412873365WASn.383C>G
c.1139C>G (p.Pro380Arg)
c.983C>G (p.Pro328Arg)
 dbSNP gnomAD v2 gnomAD v4
Xg.48688867C>TCA412873366WASn.383C>T
c.1139C>T (p.Pro380Leu)
c.983C>T (p.Pro328Leu)
 gnomAD v4
Xg.48688868A>CCA516356264WASn.384A>C
c.1140A>C (p.Pro380=)
c.984A>C (p.Pro328=)
 ClinVar
Xg.48688868A>GCA516356263WASn.384A>G
c.1140A>G (p.Pro380=)
c.984A>G (p.Pro328=)
Xg.48688868A>TCA516356262WASn.384A>T
c.1140A>T (p.Pro380=)
c.984A>T (p.Pro328=)
Xg.48688869C>ACA412873367WASn.385C>A
c.1141C>A (p.Leu381Met)
c.985C>A (p.Leu329Met)
 gnomAD v4
Xg.48688869C>GCA412873368WASn.385C>G
c.1141C>G (p.Leu381Val)
c.985C>G (p.Leu329Val)
Xg.48688869C>TCA516356267WASn.385C>T
c.1141C>T (p.Leu381=)
c.985C>T (p.Leu329=)
 gnomAD v4
Xg.48688870T>ACA412873370WASn.386T>A
c.1142T>A (p.Leu381Gln)
c.986T>A (p.Leu329Gln)
 gnomAD v4
Xg.48688870T>CCA412873371WASn.386T>C
c.1142T>C (p.Leu381Pro)
c.986T>C (p.Leu329Pro)
 gnomAD v4
Xg.48688870T>GCA412873372WASn.386T>G
c.1142T>G (p.Leu381Arg)
c.986T>G (p.Leu329Arg)
Xg.48688871delCA2695233780WASn.387del
c.1143del (p.Pro383LeufsTer?)
c.987del (p.Pro331LeufsTer?)
Xg.48688871G>ACA516356269WASn.387G>A
c.1143G>A (p.Leu381=)
c.987G>A (p.Leu329=)
Xg.48688871G>CCA516356270WASn.387G>C
c.1143G>C (p.Leu381=)
c.987G>C (p.Leu329=)
 gnomAD v4
Xg.48688871G>TCA516356271WASn.387G>T
c.1143G>T (p.Leu381=)
c.987G>T (p.Leu329=)
 gnomAD v4
Xg.48688872C>ACA412873373WASn.388C>A
c.1144C>A (p.Pro382Thr)
c.988C>A (p.Pro330Thr)
 dbSNP gnomAD v4
Xg.48688872C=CA2428355722WASn.388C=
c.1144C= (p.Pro382=)
c.988C= (p.Pro330=)
Xg.48688872C>GCA412873375WASn.388C>G
c.1144C>G (p.Pro382Ala)
c.988C>G (p.Pro330Ala)
Xg.48688872C>TCA412873374WASn.388C>T
c.1144C>T (p.Pro382Ser)
c.988C>T (p.Pro330Ser)
 gnomAD v4
Xg.48688876dupCA1139554019WASn.392dup
c.1148dup (p.Pro384SerfsTer?)
c.992dup (p.Pro332SerfsTer?)
Xg.48688876delCA2693644878WASn.392del
c.1148del (p.Pro383LeufsTer?)
c.992del (p.Pro331LeufsTer?)
 gnomAD v4
Xg.48688873C>ACA412873376WASn.389C>A
c.1145C>A (p.Pro382His)
c.989C>A (p.Pro330His)
 gnomAD v4
Xg.48688873C>GCA412873377WASn.389C>G
c.1145C>G (p.Pro382Arg)
c.989C>G (p.Pro330Arg)
Xg.48688873C>TCA412873378WASn.389C>T
c.1145C>T (p.Pro382Leu)
c.989C>T (p.Pro330Leu)
 gnomAD v4
Xg.48688874C>ACA516356275WASn.390C>A
c.1146C>A (p.Pro382=)
c.990C>A (p.Pro330=)
 gnomAD v4
Xg.48688874C>GCA516356276WASn.390C>G
c.1146C>G (p.Pro382=)
c.990C>G (p.Pro330=)
Xg.48688874C>TCA516356277WASn.390C>T
c.1146C>T (p.Pro382=)
c.990C>T (p.Pro330=)
 gnomAD v4 COSMIC
Xg.48688875C>ACA412873379WASn.391C>A
c.1147C>A (p.Pro383Thr)
c.991C>A (p.Pro331Thr)
 gnomAD v4
Xg.48688875C>GCA412873380WASn.391C>G
c.1147C>G (p.Pro383Ala)
c.991C>G (p.Pro331Ala)
Xg.48688875C>TCA412873381WASn.391C>T
c.1147C>T (p.Pro383Ser)
c.991C>T (p.Pro331Ser)
 gnomAD v4
Xg.48688876C>ACA412873382WASn.392C>A
c.1148C>A (p.Pro383His)
c.992C>A (p.Pro331His)
 gnomAD v4
Xg.48688876C>GCA412873383WASn.392C>G
c.1148C>G (p.Pro383Arg)
c.992C>G (p.Pro331Arg)
Xg.48688876C>TCA412873384WASn.392C>T
c.1148C>T (p.Pro383Leu)
c.992C>T (p.Pro331Leu)
 ClinVar gnomAD v4
Xg.48688877T>ACA516356281WASn.393T>A
c.1149T>A (p.Pro383=)
c.993T>A (p.Pro331=)
 ClinVar gnomAD v3 gnomAD v4
Xg.48688877T>CCA516356282WASn.393T>C
c.1149T>C (p.Pro383=)
c.993T>C (p.Pro331=)
 dbSNP gnomAD v4
Xg.48688877T>GCA516356283WASn.393T>G
c.1149T>G (p.Pro383=)
c.993T>G (p.Pro331=)
Xg.48688877T=CA2428355723WASn.393T=
c.1149T= (p.Pro383=)
c.993T= (p.Pro331=)
Xg.48688878C>ACA329102264WASn.394C>A
c.1150C>A (p.Pro384Thr)
c.994C>A (p.Pro332Thr)
 dbSNP gnomAD v4
Xg.48688878C=CA2428355724WASn.394C=
c.1150C= (p.Pro384=)
c.994C= (p.Pro332=)
Xg.48688878C>GCA412873385WASn.394C>G
c.1150C>G (p.Pro384Ala)
c.994C>G (p.Pro332Ala)
 gnomAD v4
Xg.48688878C>TCA10404041WASn.394C>T
c.1150C>T (p.Pro384Ser)
c.994C>T (p.Pro332Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688879dupCA2695233781WASn.395dup
c.1151dup (p.Pro385ThrfsTer?)
c.995dup (p.Pro333ThrfsTer?)
Xg.48688879delCA2693644902WASn.395del
c.1151del (p.Pro384HisfsTer?)
c.995del (p.Pro332HisfsTer?)
 gnomAD v4
Xg.48688879C>ACA412873389WASn.395C>A
c.1151C>A (p.Pro384Gln)
c.995C>A (p.Pro332Gln)
 gnomAD v4
Xg.48688879C>GCA412873387WASn.395C>G
c.1151C>G (p.Pro384Arg)
c.995C>G (p.Pro332Arg)
Xg.48688879C>TCA412873388WASn.395C>T
c.1151C>T (p.Pro384Leu)
c.995C>T (p.Pro332Leu)
Xg.48688880A=CA2428355726WASn.396A=
c.1152A= (p.Pro384=)
c.996A= (p.Pro332=)
Xg.48688880A>CCA516356288WASn.396A>C
c.1152A>C (p.Pro384=)
c.996A>C (p.Pro332=)
 dbSNP gnomAD v3 gnomAD v4
Xg.48688880A>GCA516356289WASn.396A>G
c.1152A>G (p.Pro384=)
c.996A>G (p.Pro332=)
 gnomAD v4
Xg.48688880A>TCA516356290WASn.396A>T
c.1152A>T (p.Pro384=)
c.996A>T (p.Pro332=)
Xg.48688880_48688881delinsACCA2428355725WASn.396_397delinsAC
c.1152_1153delinsAC (p.Pro384=)
c.996_997delinsAC (p.Pro332=)
Xg.48688881C>ACA412873390WASn.397C>A
c.1153C>A (p.Pro385Thr)
c.997C>A (p.Pro333Thr)
 gnomAD v4
Xg.48688881C=CA2428355727WASn.397C=
c.1153C= (p.Pro385=)
c.997C= (p.Pro333=)
Xg.48688881C>GCA412873391WASn.397C>G
c.1153C>G (p.Pro385Ala)
c.997C>G (p.Pro333Ala)
 dbSNP gnomAD v2 gnomAD v4
Xg.48688881C>TCA412873392WASn.397C>T
c.1153C>T (p.Pro385Ser)
c.997C>T (p.Pro333Ser)
 gnomAD v4
Xg.48688885dupCA10603599WASn.401dup
c.1157dup (p.Gly387TrpfsTer?)
c.1001dup (p.Gly335TrpfsTer?)
 ClinVar dbSNP gnomAD v4
Xg.48688885delCA1139667532WASn.401del
c.1157del (p.Pro386LeufsTer?)
c.1001del (p.Pro334LeufsTer?)
 ClinVar dbSNP gnomAD v4
Xg.48688882C>ACA412873393WASn.398C>A
c.1154C>A (p.Pro385His)
c.998C>A (p.Pro333His)
 gnomAD v4
Xg.48688882C=CA2428355728WASn.398C=
c.1154C= (p.Pro385=)
c.998C= (p.Pro333=)
Xg.48688882C>GCA412873394WASn.398C>G
c.1154C>G (p.Pro385Arg)
c.998C>G (p.Pro333Arg)
 gnomAD v4
Xg.48688882C>TCA412873395WASn.398C>T
c.1154C>T (p.Pro385Leu)
c.998C>T (p.Pro333Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.48688883C>ACA516356295WASn.399C>A
c.1155C>A (p.Pro385=)
c.999C>A (p.Pro333=)
 gnomAD v4
Xg.48688883C=CA2428355729WASn.399C=
c.1155C= (p.Pro385=)
c.999C= (p.Pro333=)
Xg.48688883C>GCA516356294WASn.399C>G
c.1155C>G (p.Pro385=)
c.999C>G (p.Pro333=)
Xg.48688883C>TCA10404042WASn.399C>T
c.1155C>T (p.Pro385=)
c.999C>T (p.Pro333=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48688884C>ACA412873396WASn.400C>A
c.1156C>A (p.Pro386Thr)
c.1000C>A (p.Pro334Thr)
 gnomAD v4
Xg.48688884C=CA2428355730WASn.400C=
c.1156C= (p.Pro386=)
c.1000C= (p.Pro334=)
Xg.48688884C>GCA412873397WASn.400C>G
c.1156C>G (p.Pro386Ala)
c.1000C>G (p.Pro334Ala)
 gnomAD v4
Xg.48688884C>TCA329102302WASn.400C>T
c.1156C>T (p.Pro386Ser)
c.1000C>T (p.Pro334Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.48688885C>ACA412873400WASn.401C>A
c.1157C>A (p.Pro386His)
c.1001C>A (p.Pro334His)
 dbSNP gnomAD v4
Xg.48688885C=CA2428355731WASn.401C=
c.1157C= (p.Pro386=)
c.1001C= (p.Pro334=)
Xg.48688885C>GCA412873399WASn.401C>G
c.1157C>G (p.Pro386Arg)
c.1001C>G (p.Pro334Arg)
Xg.48688885C>TCA412873398WASn.401C>T
c.1157C>T (p.Pro386Leu)
c.1001C>T (p.Pro334Leu)
 gnomAD v4
Xg.48688886delCA2695233782WASn.402del
c.1158del (p.Gly387GlufsTer?)
c.1002del (p.Gly335GlufsTer?)
Xg.48688886T>ACA516356301WASn.402T>A
c.1158T>A (p.Pro386=)
c.1002T>A (p.Pro334=)
 dbSNP gnomAD v3 gnomAD v4
Xg.48688886T>CCA516356300WASn.402T>C
c.1158T>C (p.Pro386=)
c.1002T>C (p.Pro334=)
 dbSNP gnomAD v4
Xg.48688886T>GCA516356299WASn.402T>G
c.1158T>G (p.Pro386=)
c.1002T>G (p.Pro334=)
Xg.48688886T=CA2428355732WASn.402T=
c.1158T= (p.Pro386=)
c.1002T= (p.Pro334=)
Xg.48688887G>ACA412873401WASn.403G>A
c.1159G>A (p.Gly387Arg)
c.1003G>A (p.Gly335Arg)
 gnomAD v4
Xg.48688887G>CCA412873403WASn.403G>C
c.1159G>C (p.Gly387Arg)
c.1003G>C (p.Gly335Arg)
Xg.48688887G>TCA412873405WASn.403G>T
c.1159G>T (p.Gly387Ter)
c.1003G>T (p.Gly335Ter)
 gnomAD v4
Xg.48688888G>ACA412873406WASn.404G>A
c.1160G>A (p.Gly387Glu)
c.1004G>A (p.Gly335Glu)
 gnomAD v4
Xg.48688888G>CCA412873407WASn.404G>C
c.1160G>C (p.Gly387Ala)
c.1004G>C (p.Gly335Ala)
Xg.48688888G>TCA412873408WASn.404G>T
c.1160G>T (p.Gly387Val)
c.1004G>T (p.Gly335Val)
 gnomAD v4
Xg.48688889A=CA2428355733WASn.405A=
c.1161A= (p.Gly387=)
c.1005A= (p.Gly335=)
Xg.48688889A>CCA516356305WASn.405A>C
c.1161A>C (p.Gly387=)
c.1005A>C (p.Gly335=)
Xg.48688889A>GCA516356306WASn.405A>G
c.1161A>G (p.Gly387=)
c.1005A>G (p.Gly335=)
Xg.48688889A>TCA329102333WASn.405A>T
c.1161A>T (p.Gly387=)
c.1005A>T (p.Gly335=)
 dbSNP
Xg.48688890G>ACA412873411WASn.406G>A
c.1162G>A (p.Ala388Thr)
c.1006G>A (p.Ala336Thr)
 gnomAD v4
Xg.48688890G>CCA412873410WASn.406G>C
c.1162G>C (p.Ala388Pro)
c.1006G>C (p.Ala336Pro)
Xg.48688890G>TCA412873409WASn.406G>T
c.1162G>T (p.Ala388Ser)
c.1006G>T (p.Ala336Ser)
 gnomAD v4
Xg.48688891C>ACA412873412WASn.407C>A
c.1163C>A (p.Ala388Asp)
c.1007C>A (p.Ala336Asp)
 gnomAD v4
Xg.48688891C>GCA412873413WASn.407C>G
c.1163C>G (p.Ala388Gly)
c.1007C>G (p.Ala336Gly)
 gnomAD v4
Xg.48688891C>TCA412873414WASn.407C>T
c.1163C>T (p.Ala388Val)
c.1007C>T (p.Ala336Val)
 gnomAD v4
Xg.48688892T>ACA516356310WASn.408T>A
c.1164T>A (p.Ala388=)
c.1008T>A (p.Ala336=)
Xg.48688892T>CCA516356311WASn.408T>C
c.1164T>C (p.Ala388=)
c.1008T>C (p.Ala336=)
 gnomAD v4
Xg.48688892T>GCA516356312WASn.408T>G
c.1164T>G (p.Ala388=)
c.1008T>G (p.Ala336=)
Xg.48688893G>ACA412873415WASn.409G>A
c.1165G>A (p.Gly389Ser)
c.1009G>A (p.Gly337Ser)
 gnomAD v4
Xg.48688893G>CCA412873416WASn.409G>C
c.1165G>C (p.Gly389Arg)
c.1009G>C (p.Gly337Arg)
Xg.48688893G>TCA412873417WASn.409G>T
c.1165G>T (p.Gly389Cys)
c.1009G>T (p.Gly337Cys)
 gnomAD v4
Xg.48688894G>ACA412873418WASn.410G>A
c.1166G>A (p.Gly389Asp)
c.1010G>A (p.Gly337Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688894G>CCA412873420WASn.410G>C
c.1166G>C (p.Gly389Ala)
c.1010G>C (p.Gly337Ala)
Xg.48688894G=CA2428355734WASn.410G=
c.1166G= (p.Gly389=)
c.1010G= (p.Gly337=)
Xg.48688894G>TCA412873419WASn.410G>T
c.1166G>T (p.Gly389Val)
c.1010G>T (p.Gly337Val)
 gnomAD v4
Xg.48688895T>ACA516356316WASn.411T>A
c.1167T>A (p.Gly389=)
c.1011T>A (p.Gly337=)
 gnomAD v4
Xg.48688895T>CCA516356317WASn.411T>C
c.1167T>C (p.Gly389=)
c.1011T>C (p.Gly337=)
 gnomAD v4
Xg.48688895T>GCA516356318WASn.411T>G
c.1167T>G (p.Gly389=)
c.1011T>G (p.Gly337=)
Xg.48688896G>ACA412873421WASn.412G>A
c.1168G>A (p.Gly390Arg)
c.1012G>A (p.Gly338Arg)
Xg.48688896G>CCA412873422WASn.412G>C
c.1168G>C (p.Gly390Arg)
c.1012G>C (p.Gly338Arg)
Xg.48688896G>TCA412873423WASn.412G>T
c.1168G>T (p.Gly390Trp)
c.1012G>T (p.Gly338Trp)
 gnomAD v4
Xg.48688897G>ACA412873424WASn.413G>A
c.1169G>A (p.Gly390Glu)
c.1013G>A (p.Gly338Glu)
 gnomAD v4
Xg.48688897G>CCA412873425WASn.413G>C
c.1169G>C (p.Gly390Ala)
c.1013G>C (p.Gly338Ala)
Xg.48688897G>TCA412873426WASn.413G>T
c.1169G>T (p.Gly390Val)
c.1013G>T (p.Gly338Val)
 gnomAD v4
Xg.48688898G>ACA516356320WASn.414G>A
c.1170G>A (p.Gly390=)
c.1014G>A (p.Gly338=)
 dbSNP gnomAD v4
Xg.48688898G>CCA516356321WASn.414G>C
c.1170G>C (p.Gly390=)
c.1014G>C (p.Gly338=)
Xg.48688898G=CA2428355735WASn.414G=
c.1170G= (p.Gly390=)
c.1014G= (p.Gly338=)
Xg.48688898G>TCA516356322WASn.414G>T
c.1170G>T (p.Gly390=)
c.1014G>T (p.Gly338=)
Xg.48688899C>ACA412873427WASn.415C>A
c.1171C>A (p.Pro391Thr)
c.1015C>A (p.Pro339Thr)
 gnomAD v4
Xg.48688899C>GCA412873428WASn.415C>G
c.1171C>G (p.Pro391Ala)
c.1015C>G (p.Pro339Ala)
Xg.48688899C>TCA412873429WASn.415C>T
c.1171C>T (p.Pro391Ser)
c.1015C>T (p.Pro339Ser)
 gnomAD v4
Xg.48688901_48688903delCA2499214011WASn.417_419del
c.1173_1175del (p.Pro392del)
c.1017_1019del (p.Pro340del)
 gnomAD v4
Xg.48688900C>ACA412873430WASn.416C>A
c.1172C>A (p.Pro391Gln)
c.1016C>A (p.Pro339Gln)
Xg.48688900C=CA2428355736WASn.416C=
c.1172C= (p.Pro391=)
c.1016C= (p.Pro339=)
Xg.48688900C>GCA412873431WASn.416C>G
c.1172C>G (p.Pro391Arg)
c.1016C>G (p.Pro339Arg)
Xg.48688900C>TCA412873432WASn.416C>T
c.1172C>T (p.Pro391Leu)
c.1016C>T (p.Pro339Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688901A>CCA516356326WASn.417A>C
c.1173A>C (p.Pro391=)
c.1017A>C (p.Pro339=)
 dbSNP
Xg.48688901A>GCA516356327WASn.417A>G
c.1173A>G (p.Pro391=)
c.1017A>G (p.Pro339=)
Xg.48688901A>TCA516356328WASn.417A>T
c.1173A>T (p.Pro391=)
c.1017A>T (p.Pro339=)
Xg.48688902C>ACA329102334WASn.418C>A
c.1174C>A (p.Pro392Thr)
c.1018C>A (p.Pro340Thr)
 ClinVar dbSNP gnomAD v4
Xg.48688902C=CA2428355737WASn.418C=
c.1174C= (p.Pro392=)
c.1018C= (p.Pro340=)
Xg.48688902C>GCA412873434WASn.418C>G
c.1174C>G (p.Pro392Ala)
c.1018C>G (p.Pro340Ala)
Xg.48688902C>TCA412873433WASn.418C>T
c.1174C>T (p.Pro392Ser)
c.1018C>T (p.Pro340Ser)
 gnomAD v4
Xg.48688904delCA2693644932WASn.420del
c.1176del (p.Met393CysfsTer?)
c.1020del (p.Met341CysfsTer?)
 gnomAD v4
Xg.48688903C>ACA412873435WASn.419C>A
c.1175C>A (p.Pro392His)
c.1019C>A (p.Pro340His)
 gnomAD v4
Xg.48688903C=CA2428355738WASn.419C=
c.1175C= (p.Pro392=)
c.1019C= (p.Pro340=)
Xg.48688903C>GCA412873437WASn.419C>G
c.1175C>G (p.Pro392Arg)
c.1019C>G (p.Pro340Arg)
 gnomAD v4
Xg.48688903C>TCA10404043WASn.419C>T
c.1175C>T (p.Pro392Leu)
c.1019C>T (p.Pro340Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48688904C>ACA516356332WASn.420C>A
c.1176C>A (p.Pro392=)
c.1020C>A (p.Pro340=)
Xg.48688904C>GCA516356333WASn.420C>G
c.1176C>G (p.Pro392=)
c.1020C>G (p.Pro340=)
Xg.48688904C>TCA516356331WASn.420C>T
c.1176C>T (p.Pro392=)
c.1020C>T (p.Pro340=)
Xg.48688905A>CCA412873438WASn.421A>C
c.1177A>C (p.Met393Leu)
c.1021A>C (p.Met341Leu)
 dbSNP
Xg.48688905A>GCA412873439WASn.421A>G
c.1177A>G (p.Met393Val)
c.1021A>G (p.Met341Val)
Xg.48688905A>TCA412873440WASn.421A>T
c.1177A>T (p.Met393Leu)
c.1021A>T (p.Met341Leu)
Xg.48688906T>ACA412873441WASn.422T>A
c.1178T>A (p.Met393Lys)
c.1022T>A (p.Met341Lys)
Xg.48688906T>CCA412873442WASn.422T>C
c.1178T>C (p.Met393Thr)
c.1022T>C (p.Met341Thr)
Xg.48688906T>GCA412873443WASn.422T>G
c.1178T>G (p.Met393Arg)
c.1022T>G (p.Met341Arg)
Xg.48688906dupCA2695233783WASn.422dup
c.1178dup (p.Met393IlefsTer?)
c.1022dup (p.Met341IlefsTer?)
Xg.48688907G>ACA412873444WASn.423G>A
c.1179G>A (p.Met393Ile)
c.1023G>A (p.Met341Ile)
 gnomAD v4
Xg.48688907G>CCA412873445WASn.423G>C
c.1179G>C (p.Met393Ile)
c.1023G>C (p.Met341Ile)
 gnomAD v4
Xg.48688907G=CA2428355740WASn.423G=
c.1179G= (p.Met393=)
c.1023G= (p.Met341=)
Xg.48688907G>TCA412873446WASn.423G>T
c.1179G>T (p.Met393Ile)
c.1023G>T (p.Met341Ile)
 gnomAD v4
Xg.48688907_48688912dupCA2693644933WASn.423_428dup
c.1179_1184dup (p.Pro395_Pro396insProPro)
c.1023_1028dup (p.Pro343_Pro344insProPro)
 gnomAD v4
Xg.48688907_48688915dupCA2740092136WASn.423_431dup
c.1179_1187dup (p.Pro396_Pro397insProProPro)
c.1023_1031dup (p.Pro344_Pro345insProProPro)
 ClinVar
Xg.48688907_48688916delinsGCCACCACCACA2428355739WASn.423_432delinsGCCACCACCA
c.1179_1188delinsGCCACCACCA (p.Met393=)
c.1023_1032delinsGCCACCACCA (p.Met341=)
Xg.48688916_48688927dupCA2693644934WASn.432_443dup
c.1188_1199dup (p.Pro400_Pro401insProProProPro)
c.1032_1043dup (p.Pro348_Pro349insProProProPro)
 gnomAD v4
Xg.48688916_48688927delCA2695233784WASn.432_443del
c.1188_1199del (p.Pro397_Pro400del)
c.1032_1043del (p.Pro345_Pro348del)
Xg.48688908C>ACA412873449WASn.424C>A
c.1180C>A (p.Pro394Thr)
c.1024C>A (p.Pro342Thr)
 gnomAD v4
Xg.48688908C=CA2428355741WASn.424C=
c.1180C= (p.Pro394=)
c.1024C= (p.Pro342=)
Xg.48688908C>GCA412873447WASn.424C>G
c.1180C>G (p.Pro394Ala)
c.1024C>G (p.Pro342Ala)
Xg.48688908C>TCA412873448WASn.424C>T
c.1180C>T (p.Pro394Ser)
c.1024C>T (p.Pro342Ser)
 dbSNP gnomAD v2 gnomAD v4
Xg.48688909_48688910insTCCCA2428355742WASn.425_426insTCC
c.1181_1182insTCC (p.Pro394_Pro395insPro)
c.1025_1026insTCC (p.Pro342_Pro343insPro)
 dbSNP
Xg.48688910_48688918dupCA2428355744WASn.426_434dup
c.1182_1190dup (p.Pro397_Pro398insProProPro)
c.1026_1034dup (p.Pro345_Pro346insProProPro)
 dbSNP gnomAD v4
Xg.48688916_48688918delCA641901768WASn.432_434del
c.1188_1190del (p.Pro397del)
c.1032_1034del (p.Pro345del)
 dbSNP gnomAD v2 gnomAD v4
Xg.48688910_48688918delCA2428355743WASn.426_434del
c.1182_1190del (p.Pro395_Pro397del)
c.1026_1034del (p.Pro343_Pro345del)
 dbSNP gnomAD v4
Xg.48688913_48688927delCA516356337WASn.429_443del
c.1185_1199del (p.Pro396_Pro400del)
c.1029_1043del (p.Pro344_Pro348del)
Xg.48688909C>ACA412873450WASn.425C>A
c.1181C>A (p.Pro394Gln)
c.1025C>A (p.Pro342Gln)
 gnomAD v4
Xg.48688909C=CA2428355745WASn.425C=
c.1181C= (p.Pro394=)
c.1025C= (p.Pro342=)
Xg.48688909C>GCA412873451WASn.425C>G
c.1181C>G (p.Pro394Arg)
c.1025C>G (p.Pro342Arg)
Xg.48688909C>TCA10404044WASn.425C>T
c.1181C>T (p.Pro394Leu)
c.1025C>T (p.Pro342Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688910A=CA2428355747WASn.426A=
c.1182A= (p.Pro394=)
c.1026A= (p.Pro342=)
Xg.48688910A>CCA516356342WASn.426A>C
c.1182A>C (p.Pro394=)
c.1026A>C (p.Pro342=)
 dbSNP
Xg.48688910A>GCA516356343WASn.426A>G
c.1182A>G (p.Pro394=)
c.1026A>G (p.Pro342=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688910A>TCA516356344WASn.426A>T
c.1182A>T (p.Pro394=)
c.1026A>T (p.Pro342=)
Xg.48688910_48688919delinsACCACCACCGCA2428355746WASn.426_435delinsACCACCACCG
c.1182_1191delinsACCACCACCG (p.Pro394=)
c.1026_1035delinsACCACCACCG (p.Pro342=)
Xg.48688911C>ACA412873452WASn.427C>A
c.1183C>A (p.Pro395Thr)
c.1027C>A (p.Pro343Thr)
Xg.48688911C=CA2428355748WASn.427C=
c.1183C= (p.Pro395=)
c.1027C= (p.Pro343=)
Xg.48688911C>GCA412873453WASn.427C>G
c.1183C>G (p.Pro395Ala)
c.1027C>G (p.Pro343Ala)
 dbSNP gnomAD v3 gnomAD v4
Xg.48688911C>TCA412873454WASn.427C>T
c.1183C>T (p.Pro395Ser)
c.1027C>T (p.Pro343Ser)
 gnomAD v4
Xg.48688911_48688918dupCA16043275WASn.427_434dup
c.1183_1190dup (p.Pro398HisfsTer?)
c.1027_1034dup (p.Pro346HisfsTer?)
 ClinVar dbSNP
Xg.48688925_48688933dupCA10404045WASn.441_449dup
c.1197_1205dup (p.Pro402_Pro403insProProPro)
c.1041_1049dup (p.Pro350_Pro351insProProPro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688925_48688933delCA342890WASn.441_449del
c.1197_1205del (p.Pro400_Pro402del)
c.1041_1049del (p.Pro348_Pro350del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688912C>ACA412873455WASn.428C>A
c.1184C>A (p.Pro395Gln)
c.1028C>A (p.Pro343Gln)
 gnomAD v4
Xg.48688912C>GCA412873456WASn.428C>G
c.1184C>G (p.Pro395Arg)
c.1028C>G (p.Pro343Arg)
Xg.48688912C>TCA412873457WASn.428C>T
c.1184C>T (p.Pro395Leu)
c.1028C>T (p.Pro343Leu)
 gnomAD v4
Xg.48688913delCA2738505179WASn.429del
c.1185del (p.Pro396HisfsTer?)
c.1029del (p.Pro344HisfsTer?)
 dbSNP
Xg.48688913A>CCA516356351WASn.429A>C
c.1185A>C (p.Pro395=)
c.1029A>C (p.Pro343=)
 dbSNP
Xg.48688913A>GCA516356352WASn.429A>G
c.1185A>G (p.Pro395=)
c.1029A>G (p.Pro343=)
Xg.48688913A>TCA516356353WASn.429A>T
c.1185A>T (p.Pro395=)
c.1029A>T (p.Pro343=)
 gnomAD v4
Xg.48688914C>ACA412873460WASn.430C>A
c.1186C>A (p.Pro396Thr)
c.1030C>A (p.Pro344Thr)
 gnomAD v4
Xg.48688914C>GCA412873458WASn.430C>G
c.1186C>G (p.Pro396Ala)
c.1030C>G (p.Pro344Ala)
Xg.48688914C>TCA412873459WASn.430C>T
c.1186C>T (p.Pro396Ser)
c.1030C>T (p.Pro344Ser)
 gnomAD v4
Xg.48688922_48688936delCA2693644960WASn.438_452del
c.1194_1208del (p.Pro399_Pro403del)
c.1038_1052del (p.Pro347_Pro351del)
 gnomAD v4
Xg.48688915C>ACA412873461WASn.431C>A
c.1187C>A (p.Pro396Gln)
c.1031C>A (p.Pro344Gln)
 ClinVar gnomAD v4
Xg.48688915C=CA2428355749WASn.431C=
c.1187C= (p.Pro396=)
c.1031C= (p.Pro344=)
Xg.48688915C>GCA412873462WASn.431C>G
c.1187C>G (p.Pro396Arg)
c.1031C>G (p.Pro344Arg)
Xg.48688915C>TCA412873463WASn.431C>T
c.1187C>T (p.Pro396Leu)
c.1031C>T (p.Pro344Leu)
 dbSNP gnomAD v2
Xg.48688916A=CA2428355750WASn.432A=
c.1188A= (p.Pro396=)
c.1032A= (p.Pro344=)
Xg.48688916A>CCA516356357WASn.432A>C
c.1188A>C (p.Pro396=)
c.1032A>C (p.Pro344=)
 ClinVar dbSNP
Xg.48688916A>GCA516356358WASn.432A>G
c.1188A>G (p.Pro396=)
c.1032A>G (p.Pro344=)
 gnomAD v4
Xg.48688916A>TCA516356359WASn.432A>T
c.1188A>T (p.Pro396=)
c.1032A>T (p.Pro344=)
Xg.48688917C>ACA412873464WASn.433C>A
c.1189C>A (p.Pro397Thr)
c.1033C>A (p.Pro345Thr)
 gnomAD v4
Xg.48688917C>GCA412873466WASn.433C>G
c.1189C>G (p.Pro397Ala)
c.1033C>G (p.Pro345Ala)
Xg.48688917C>TCA412873465WASn.433C>T
c.1189C>T (p.Pro397Ser)
c.1033C>T (p.Pro345Ser)
 gnomAD v4
Xg.48688918delCA2695233785WASn.434del
c.1190del (p.Pro397ArgfsTer?)
c.1034del (p.Pro345ArgfsTer?)
Xg.48688918C>ACA412873467WASn.434C>A
c.1190C>A (p.Pro397Gln)
c.1034C>A (p.Pro345Gln)
 gnomAD v4
Xg.48688918C=CA2428355751WASn.434C=
c.1190C= (p.Pro397=)
c.1034C= (p.Pro345=)
Xg.48688918C>GCA412873468WASn.434C>G
c.1190C>G (p.Pro397Arg)
c.1034C>G (p.Pro345Arg)
Xg.48688918C>TCA412873469WASn.434C>T
c.1190C>T (p.Pro397Leu)
c.1034C>T (p.Pro345Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688919G>ACA10404046WASn.435G>A
c.1191G>A (p.Pro397=)
c.1035G>A (p.Pro345=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688919G>CCA516356363WASn.435G>C
c.1191G>C (p.Pro397=)
c.1035G>C (p.Pro345=)
 ClinVar dbSNP gnomAD v4
Xg.48688919G=CA2428355752WASn.435G=
c.1191G= (p.Pro397=)
c.1035G= (p.Pro345=)
Xg.48688919G>TCA516356364WASn.435G>T
c.1191G>T (p.Pro397=)
c.1035G>T (p.Pro345=)
 gnomAD v4
Xg.48688920C>ACA412873470WASn.436C>A
c.1192C>A (p.Pro398Thr)
c.1036C>A (p.Pro346Thr)
 gnomAD v4
Xg.48688920C>GCA412873471WASn.436C>G
c.1192C>G (p.Pro398Ala)
c.1036C>G (p.Pro346Ala)
Xg.48688920C>TCA412873472WASn.436C>T
c.1192C>T (p.Pro398Ser)
c.1036C>T (p.Pro346Ser)

Number of alleles fetched