Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.16986722_16986825delCA2643670866ATP13A2c.3223_3236-82del
c.3091_3103+91del
c.3208_3221-82del
n.1097_1200del
c.811_823+91del
c.3223_3235+91del
c.3220_3232+91del
c.3208_3220+91del
c.3196_3208+91del
c.3163_3175+91del
c.3106_3118+91del
c.3205_3217+91del
c.3181_3193+91del
c.3016_3028+91del
c.3205_3218-82del
c.3181_3194-82del
c.3178_3191-82del
c.3106_3119-82del
c.3091_3104-82del
c.3016_3029-82del
 gnomAD v4
1g.16986807T>ACA338233266ATP13A2c.3233A>T (p.Asn1078Ile)
c.3101A>T (p.Asn1034Ile)
c.3218A>T (p.Asn1073Ile)
n.1107A>T
c.821A>T (p.Asn274Ile)
c.3230A>T (p.Asn1077Ile)
c.3206A>T (p.Asn1069Ile)
c.3173A>T (p.Asn1058Ile)
c.3116A>T (p.Asn1039Ile)
c.3215A>T (p.Asn1072Ile)
c.3191A>T (p.Asn1064Ile)
c.3026A>T (p.Asn1009Ile)
c.3188A>T (p.Asn1063Ile)
1g.16986807T>CCA338233268ATP13A2c.3233A>G (p.Asn1078Ser)
c.3101A>G (p.Asn1034Ser)
c.3218A>G (p.Asn1073Ser)
n.1107A>G
c.821A>G (p.Asn274Ser)
c.3230A>G (p.Asn1077Ser)
c.3206A>G (p.Asn1069Ser)
c.3173A>G (p.Asn1058Ser)
c.3116A>G (p.Asn1039Ser)
c.3215A>G (p.Asn1072Ser)
c.3191A>G (p.Asn1064Ser)
c.3026A>G (p.Asn1009Ser)
c.3188A>G (p.Asn1063Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.16986807T>GCA338233269ATP13A2c.3233A>C (p.Asn1078Thr)
c.3101A>C (p.Asn1034Thr)
c.3218A>C (p.Asn1073Thr)
n.1107A>C
c.821A>C (p.Asn274Thr)
c.3230A>C (p.Asn1077Thr)
c.3206A>C (p.Asn1069Thr)
c.3173A>C (p.Asn1058Thr)
c.3116A>C (p.Asn1039Thr)
c.3215A>C (p.Asn1072Thr)
c.3191A>C (p.Asn1064Thr)
c.3026A>C (p.Asn1009Thr)
c.3188A>C (p.Asn1063Thr)
1g.16986807T=CA1156050322ATP13A2c.3233A= (p.Asn1078=)
c.3101A= (p.Asn1034=)
c.3218A= (p.Asn1073=)
n.1107A=
c.821A= (p.Asn274=)
c.3230A= (p.Asn1077=)
c.3206A= (p.Asn1069=)
c.3173A= (p.Asn1058=)
c.3116A= (p.Asn1039=)
c.3215A= (p.Asn1072=)
c.3191A= (p.Asn1064=)
c.3026A= (p.Asn1009=)
c.3188A= (p.Asn1063=)
1g.16986808T>ACA338233273ATP13A2c.3232A>T (p.Asn1078Tyr)
c.3100A>T (p.Asn1034Tyr)
c.3217A>T (p.Asn1073Tyr)
n.1106A>T
c.820A>T (p.Asn274Tyr)
c.3229A>T (p.Asn1077Tyr)
c.3205A>T (p.Asn1069Tyr)
c.3172A>T (p.Asn1058Tyr)
c.3115A>T (p.Asn1039Tyr)
c.3214A>T (p.Asn1072Tyr)
c.3190A>T (p.Asn1064Tyr)
c.3025A>T (p.Asn1009Tyr)
c.3187A>T (p.Asn1063Tyr)
 gnomAD v4
1g.16986808T>CCA338233271ATP13A2c.3232A>G (p.Asn1078Asp)
c.3100A>G (p.Asn1034Asp)
c.3217A>G (p.Asn1073Asp)
n.1106A>G
c.820A>G (p.Asn274Asp)
c.3229A>G (p.Asn1077Asp)
c.3205A>G (p.Asn1069Asp)
c.3172A>G (p.Asn1058Asp)
c.3115A>G (p.Asn1039Asp)
c.3214A>G (p.Asn1072Asp)
c.3190A>G (p.Asn1064Asp)
c.3025A>G (p.Asn1009Asp)
c.3187A>G (p.Asn1063Asp)
1g.16986808T>GCA338233270ATP13A2c.3232A>C (p.Asn1078His)
c.3100A>C (p.Asn1034His)
c.3217A>C (p.Asn1073His)
n.1106A>C
c.820A>C (p.Asn274His)
c.3229A>C (p.Asn1077His)
c.3205A>C (p.Asn1069His)
c.3172A>C (p.Asn1058His)
c.3115A>C (p.Asn1039His)
c.3214A>C (p.Asn1072His)
c.3190A>C (p.Asn1064His)
c.3025A>C (p.Asn1009His)
c.3187A>C (p.Asn1063His)
1g.16986809G>ACA416093544ATP13A2c.3231C>T (p.Thr1077=)
c.3099C>T (p.Thr1033=)
c.3216C>T (p.Thr1072=)
n.1105C>T
c.819C>T (p.Thr273=)
c.3228C>T (p.Thr1076=)
c.3204C>T (p.Thr1068=)
c.3171C>T (p.Thr1057=)
c.3114C>T (p.Thr1038=)
c.3213C>T (p.Thr1071=)
c.3189C>T (p.Thr1063=)
c.3024C>T (p.Thr1008=)
c.3186C>T (p.Thr1062=)
 dbSNP gnomAD v2 gnomAD v4
1g.16986809G>CCA416093545ATP13A2c.3231C>G (p.Thr1077=)
c.3099C>G (p.Thr1033=)
c.3216C>G (p.Thr1072=)
n.1105C>G
c.819C>G (p.Thr273=)
c.3228C>G (p.Thr1076=)
c.3204C>G (p.Thr1068=)
c.3171C>G (p.Thr1057=)
c.3114C>G (p.Thr1038=)
c.3213C>G (p.Thr1071=)
c.3189C>G (p.Thr1063=)
c.3024C>G (p.Thr1008=)
c.3186C>G (p.Thr1062=)
1g.16986809G=CA1156050325ATP13A2c.3231C= (p.Thr1077=)
c.3099C= (p.Thr1033=)
c.3216C= (p.Thr1072=)
n.1105C=
c.819C= (p.Thr273=)
c.3228C= (p.Thr1076=)
c.3204C= (p.Thr1068=)
c.3171C= (p.Thr1057=)
c.3114C= (p.Thr1038=)
c.3213C= (p.Thr1071=)
c.3189C= (p.Thr1063=)
c.3024C= (p.Thr1008=)
c.3186C= (p.Thr1062=)
1g.16986809G>TCA416093546ATP13A2c.3231C>A (p.Thr1077=)
c.3099C>A (p.Thr1033=)
c.3216C>A (p.Thr1072=)
n.1105C>A
c.819C>A (p.Thr273=)
c.3228C>A (p.Thr1076=)
c.3204C>A (p.Thr1068=)
c.3171C>A (p.Thr1057=)
c.3114C>A (p.Thr1038=)
c.3213C>A (p.Thr1071=)
c.3189C>A (p.Thr1063=)
c.3024C>A (p.Thr1008=)
c.3186C>A (p.Thr1062=)
 gnomAD v4
1g.16986810G>ACA338233275ATP13A2c.3230C>T (p.Thr1077Ile)
c.3098C>T (p.Thr1033Ile)
c.3215C>T (p.Thr1072Ile)
n.1104C>T
c.818C>T (p.Thr273Ile)
c.3227C>T (p.Thr1076Ile)
c.3203C>T (p.Thr1068Ile)
c.3170C>T (p.Thr1057Ile)
c.3113C>T (p.Thr1038Ile)
c.3212C>T (p.Thr1071Ile)
c.3188C>T (p.Thr1063Ile)
c.3023C>T (p.Thr1008Ile)
c.3185C>T (p.Thr1062Ile)
 dbSNP gnomAD v2 gnomAD v4
1g.16986810G>CCA338233276ATP13A2c.3230C>G (p.Thr1077Ser)
c.3098C>G (p.Thr1033Ser)
c.3215C>G (p.Thr1072Ser)
n.1104C>G
c.818C>G (p.Thr273Ser)
c.3227C>G (p.Thr1076Ser)
c.3203C>G (p.Thr1068Ser)
c.3170C>G (p.Thr1057Ser)
c.3113C>G (p.Thr1038Ser)
c.3212C>G (p.Thr1071Ser)
c.3188C>G (p.Thr1063Ser)
c.3023C>G (p.Thr1008Ser)
c.3185C>G (p.Thr1062Ser)
1g.16986810G=CA1156050328ATP13A2c.3230C= (p.Thr1077=)
c.3098C= (p.Thr1033=)
c.3215C= (p.Thr1072=)
n.1104C=
c.818C= (p.Thr273=)
c.3227C= (p.Thr1076=)
c.3203C= (p.Thr1068=)
c.3170C= (p.Thr1057=)
c.3113C= (p.Thr1038=)
c.3212C= (p.Thr1071=)
c.3188C= (p.Thr1063=)
c.3023C= (p.Thr1008=)
c.3185C= (p.Thr1062=)
1g.16986810G>TCA338233277ATP13A2c.3230C>A (p.Thr1077Asn)
c.3098C>A (p.Thr1033Asn)
c.3215C>A (p.Thr1072Asn)
n.1104C>A
c.818C>A (p.Thr273Asn)
c.3227C>A (p.Thr1076Asn)
c.3203C>A (p.Thr1068Asn)
c.3170C>A (p.Thr1057Asn)
c.3113C>A (p.Thr1038Asn)
c.3212C>A (p.Thr1071Asn)
c.3188C>A (p.Thr1063Asn)
c.3023C>A (p.Thr1008Asn)
c.3185C>A (p.Thr1062Asn)
 gnomAD v4
1g.16986811T>ACA338233279ATP13A2c.3229A>T (p.Thr1077Ser)
c.3097A>T (p.Thr1033Ser)
c.3214A>T (p.Thr1072Ser)
n.1103A>T
c.817A>T (p.Thr273Ser)
c.3226A>T (p.Thr1076Ser)
c.3202A>T (p.Thr1068Ser)
c.3169A>T (p.Thr1057Ser)
c.3112A>T (p.Thr1038Ser)
c.3211A>T (p.Thr1071Ser)
c.3187A>T (p.Thr1063Ser)
c.3022A>T (p.Thr1008Ser)
c.3184A>T (p.Thr1062Ser)
1g.16986811T>CCA338233280ATP13A2c.3229A>G (p.Thr1077Ala)
c.3097A>G (p.Thr1033Ala)
c.3214A>G (p.Thr1072Ala)
n.1103A>G
c.817A>G (p.Thr273Ala)
c.3226A>G (p.Thr1076Ala)
c.3202A>G (p.Thr1068Ala)
c.3169A>G (p.Thr1057Ala)
c.3112A>G (p.Thr1038Ala)
c.3211A>G (p.Thr1071Ala)
c.3187A>G (p.Thr1063Ala)
c.3022A>G (p.Thr1008Ala)
c.3184A>G (p.Thr1062Ala)
1g.16986811T>GCA338233282ATP13A2c.3229A>C (p.Thr1077Pro)
c.3097A>C (p.Thr1033Pro)
c.3214A>C (p.Thr1072Pro)
n.1103A>C
c.817A>C (p.Thr273Pro)
c.3226A>C (p.Thr1076Pro)
c.3202A>C (p.Thr1068Pro)
c.3169A>C (p.Thr1057Pro)
c.3112A>C (p.Thr1038Pro)
c.3211A>C (p.Thr1071Pro)
c.3187A>C (p.Thr1063Pro)
c.3022A>C (p.Thr1008Pro)
c.3184A>C (p.Thr1062Pro)
1g.16986812G>ACA18625617ATP13A2c.3228C>T (p.Tyr1076=)
c.3096C>T (p.Tyr1032=)
c.3213C>T (p.Tyr1071=)
n.1102C>T
c.816C>T (p.Tyr272=)
c.3225C>T (p.Tyr1075=)
c.3201C>T (p.Tyr1067=)
c.3168C>T (p.Tyr1056=)
c.3111C>T (p.Tyr1037=)
c.3210C>T (p.Tyr1070=)
c.3186C>T (p.Tyr1062=)
c.3021C>T (p.Tyr1007=)
c.3183C>T (p.Tyr1061=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986812G>CCA338233285ATP13A2c.3228C>G (p.Tyr1076Ter)
c.3096C>G (p.Tyr1032Ter)
c.3213C>G (p.Tyr1071Ter)
n.1102C>G
c.816C>G (p.Tyr272Ter)
c.3225C>G (p.Tyr1075Ter)
c.3201C>G (p.Tyr1067Ter)
c.3168C>G (p.Tyr1056Ter)
c.3111C>G (p.Tyr1037Ter)
c.3210C>G (p.Tyr1070Ter)
c.3186C>G (p.Tyr1062Ter)
c.3021C>G (p.Tyr1007Ter)
c.3183C>G (p.Tyr1061Ter)
1g.16986812G=CA1156050333ATP13A2c.3228C= (p.Tyr1076=)
c.3096C= (p.Tyr1032=)
c.3213C= (p.Tyr1071=)
n.1102C=
c.816C= (p.Tyr272=)
c.3225C= (p.Tyr1075=)
c.3201C= (p.Tyr1067=)
c.3168C= (p.Tyr1056=)
c.3111C= (p.Tyr1037=)
c.3210C= (p.Tyr1070=)
c.3186C= (p.Tyr1062=)
c.3021C= (p.Tyr1007=)
c.3183C= (p.Tyr1061=)
1g.16986812G>TCA338233286ATP13A2c.3228C>A (p.Tyr1076Ter)
c.3096C>A (p.Tyr1032Ter)
c.3213C>A (p.Tyr1071Ter)
n.1102C>A
c.816C>A (p.Tyr272Ter)
c.3225C>A (p.Tyr1075Ter)
c.3201C>A (p.Tyr1067Ter)
c.3168C>A (p.Tyr1056Ter)
c.3111C>A (p.Tyr1037Ter)
c.3210C>A (p.Tyr1070Ter)
c.3186C>A (p.Tyr1062Ter)
c.3021C>A (p.Tyr1007Ter)
c.3183C>A (p.Tyr1061Ter)
1g.16986813T>ACA338233288ATP13A2c.3227A>T (p.Tyr1076Phe)
c.3095A>T (p.Tyr1032Phe)
c.3212A>T (p.Tyr1071Phe)
n.1101A>T
c.815A>T (p.Tyr272Phe)
c.3224A>T (p.Tyr1075Phe)
c.3200A>T (p.Tyr1067Phe)
c.3167A>T (p.Tyr1056Phe)
c.3110A>T (p.Tyr1037Phe)
c.3209A>T (p.Tyr1070Phe)
c.3185A>T (p.Tyr1062Phe)
c.3020A>T (p.Tyr1007Phe)
c.3182A>T (p.Tyr1061Phe)
1g.16986813T>CCA338233289ATP13A2c.3227A>G (p.Tyr1076Cys)
c.3095A>G (p.Tyr1032Cys)
c.3212A>G (p.Tyr1071Cys)
n.1101A>G
c.815A>G (p.Tyr272Cys)
c.3224A>G (p.Tyr1075Cys)
c.3200A>G (p.Tyr1067Cys)
c.3167A>G (p.Tyr1056Cys)
c.3110A>G (p.Tyr1037Cys)
c.3209A>G (p.Tyr1070Cys)
c.3185A>G (p.Tyr1062Cys)
c.3020A>G (p.Tyr1007Cys)
c.3182A>G (p.Tyr1061Cys)
1g.16986813T>GCA338233290ATP13A2c.3227A>C (p.Tyr1076Ser)
c.3095A>C (p.Tyr1032Ser)
c.3212A>C (p.Tyr1071Ser)
n.1101A>C
c.815A>C (p.Tyr272Ser)
c.3224A>C (p.Tyr1075Ser)
c.3200A>C (p.Tyr1067Ser)
c.3167A>C (p.Tyr1056Ser)
c.3110A>C (p.Tyr1037Ser)
c.3209A>C (p.Tyr1070Ser)
c.3185A>C (p.Tyr1062Ser)
c.3020A>C (p.Tyr1007Ser)
c.3182A>C (p.Tyr1061Ser)
1g.16986814A>CCA338233296ATP13A2c.3226T>G (p.Tyr1076Asp)
c.3094T>G (p.Tyr1032Asp)
c.3211T>G (p.Tyr1071Asp)
n.1100T>G
c.814T>G (p.Tyr272Asp)
c.3223T>G (p.Tyr1075Asp)
c.3199T>G (p.Tyr1067Asp)
c.3166T>G (p.Tyr1056Asp)
c.3109T>G (p.Tyr1037Asp)
c.3208T>G (p.Tyr1070Asp)
c.3184T>G (p.Tyr1062Asp)
c.3019T>G (p.Tyr1007Asp)
c.3181T>G (p.Tyr1061Asp)
1g.16986814A>GCA338233294ATP13A2c.3226T>C (p.Tyr1076His)
c.3094T>C (p.Tyr1032His)
c.3211T>C (p.Tyr1071His)
n.1100T>C
c.814T>C (p.Tyr272His)
c.3223T>C (p.Tyr1075His)
c.3199T>C (p.Tyr1067His)
c.3166T>C (p.Tyr1056His)
c.3109T>C (p.Tyr1037His)
c.3208T>C (p.Tyr1070His)
c.3184T>C (p.Tyr1062His)
c.3019T>C (p.Tyr1007His)
c.3181T>C (p.Tyr1061His)
1g.16986814A>TCA338233291ATP13A2c.3226T>A (p.Tyr1076Asn)
c.3094T>A (p.Tyr1032Asn)
c.3211T>A (p.Tyr1071Asn)
n.1100T>A
c.814T>A (p.Tyr272Asn)
c.3223T>A (p.Tyr1075Asn)
c.3199T>A (p.Tyr1067Asn)
c.3166T>A (p.Tyr1056Asn)
c.3109T>A (p.Tyr1037Asn)
c.3208T>A (p.Tyr1070Asn)
c.3184T>A (p.Tyr1062Asn)
c.3019T>A (p.Tyr1007Asn)
c.3181T>A (p.Tyr1061Asn)
1g.16986815G>ACA416093550ATP13A2c.3225C>T (p.Leu1075=)
c.3093C>T (p.Leu1031=)
c.3210C>T (p.Leu1070=)
n.1099C>T
c.813C>T (p.Leu271=)
c.3222C>T (p.Leu1074=)
c.3198C>T (p.Leu1066=)
c.3165C>T (p.Leu1055=)
c.3108C>T (p.Leu1036=)
c.3207C>T (p.Leu1069=)
c.3183C>T (p.Leu1061=)
c.3018C>T (p.Leu1006=)
c.3180C>T (p.Leu1060=)
 dbSNP gnomAD v3 gnomAD v4
1g.16986815G>CCA416093552ATP13A2c.3225C>G (p.Leu1075=)
c.3093C>G (p.Leu1031=)
c.3210C>G (p.Leu1070=)
n.1099C>G
c.813C>G (p.Leu271=)
c.3222C>G (p.Leu1074=)
c.3198C>G (p.Leu1066=)
c.3165C>G (p.Leu1055=)
c.3108C>G (p.Leu1036=)
c.3207C>G (p.Leu1069=)
c.3183C>G (p.Leu1061=)
c.3018C>G (p.Leu1006=)
c.3180C>G (p.Leu1060=)
 dbSNP gnomAD v2 gnomAD v4
1g.16986815G=CA1156050337ATP13A2c.3225C= (p.Leu1075=)
c.3093C= (p.Leu1031=)
c.3210C= (p.Leu1070=)
n.1099C=
c.813C= (p.Leu271=)
c.3222C= (p.Leu1074=)
c.3198C= (p.Leu1066=)
c.3165C= (p.Leu1055=)
c.3108C= (p.Leu1036=)
c.3207C= (p.Leu1069=)
c.3183C= (p.Leu1061=)
c.3018C= (p.Leu1006=)
c.3180C= (p.Leu1060=)
1g.16986815G>TCA416093551ATP13A2c.3225C>A (p.Leu1075=)
c.3093C>A (p.Leu1031=)
c.3210C>A (p.Leu1070=)
n.1099C>A
c.813C>A (p.Leu271=)
c.3222C>A (p.Leu1074=)
c.3198C>A (p.Leu1066=)
c.3165C>A (p.Leu1055=)
c.3108C>A (p.Leu1036=)
c.3207C>A (p.Leu1069=)
c.3183C>A (p.Leu1061=)
c.3018C>A (p.Leu1006=)
c.3180C>A (p.Leu1060=)
1g.16986816A>CCA338233297ATP13A2c.3224T>G (p.Leu1075Arg)
c.3092T>G (p.Leu1031Arg)
c.3209T>G (p.Leu1070Arg)
n.1098T>G
c.812T>G (p.Leu271Arg)
c.3221T>G (p.Leu1074Arg)
c.3197T>G (p.Leu1066Arg)
c.3164T>G (p.Leu1055Arg)
c.3107T>G (p.Leu1036Arg)
c.3206T>G (p.Leu1069Arg)
c.3182T>G (p.Leu1061Arg)
c.3017T>G (p.Leu1006Arg)
c.3179T>G (p.Leu1060Arg)
1g.16986816A>GCA338233299ATP13A2c.3224T>C (p.Leu1075Pro)
c.3092T>C (p.Leu1031Pro)
c.3209T>C (p.Leu1070Pro)
n.1098T>C
c.812T>C (p.Leu271Pro)
c.3221T>C (p.Leu1074Pro)
c.3197T>C (p.Leu1066Pro)
c.3164T>C (p.Leu1055Pro)
c.3107T>C (p.Leu1036Pro)
c.3206T>C (p.Leu1069Pro)
c.3182T>C (p.Leu1061Pro)
c.3017T>C (p.Leu1006Pro)
c.3179T>C (p.Leu1060Pro)
1g.16986816A>TCA338233301ATP13A2c.3224T>A (p.Leu1075His)
c.3092T>A (p.Leu1031His)
c.3209T>A (p.Leu1070His)
n.1098T>A
c.812T>A (p.Leu271His)
c.3221T>A (p.Leu1074His)
c.3197T>A (p.Leu1066His)
c.3164T>A (p.Leu1055His)
c.3107T>A (p.Leu1036His)
c.3206T>A (p.Leu1069His)
c.3182T>A (p.Leu1061His)
c.3017T>A (p.Leu1006His)
c.3179T>A (p.Leu1060His)
1g.16986817G>ACA338233303ATP13A2c.3223C>T (p.Leu1075Phe)
c.3091C>T (p.Leu1031Phe)
c.3208C>T (p.Leu1070Phe)
n.1097C>T
c.811C>T (p.Leu271Phe)
c.3220C>T (p.Leu1074Phe)
c.3196C>T (p.Leu1066Phe)
c.3163C>T (p.Leu1055Phe)
c.3106C>T (p.Leu1036Phe)
c.3205C>T (p.Leu1069Phe)
c.3181C>T (p.Leu1061Phe)
c.3016C>T (p.Leu1006Phe)
c.3178C>T (p.Leu1060Phe)
1g.16986817G>CCA338233304ATP13A2c.3223C>G (p.Leu1075Val)
c.3091C>G (p.Leu1031Val)
c.3208C>G (p.Leu1070Val)
n.1097C>G
c.811C>G (p.Leu271Val)
c.3220C>G (p.Leu1074Val)
c.3196C>G (p.Leu1066Val)
c.3163C>G (p.Leu1055Val)
c.3106C>G (p.Leu1036Val)
c.3205C>G (p.Leu1069Val)
c.3181C>G (p.Leu1061Val)
c.3016C>G (p.Leu1006Val)
c.3178C>G (p.Leu1060Val)
1g.16986817G>TCA338233307ATP13A2c.3223C>A (p.Leu1075Ile)
c.3091C>A (p.Leu1031Ile)
c.3208C>A (p.Leu1070Ile)
n.1097C>A
c.811C>A (p.Leu271Ile)
c.3220C>A (p.Leu1074Ile)
c.3196C>A (p.Leu1066Ile)
c.3163C>A (p.Leu1055Ile)
c.3106C>A (p.Leu1036Ile)
c.3205C>A (p.Leu1069Ile)
c.3181C>A (p.Leu1061Ile)
c.3016C>A (p.Leu1006Ile)
c.3178C>A (p.Leu1060Ile)
 gnomAD v3 gnomAD v4
1g.16986818C>ACA416093556ATP13A2c.3222G>T (p.Pro1074=)
c.3090G>T (p.Pro1030=)
c.3207G>T (p.Pro1069=)
n.1096G>T
c.810G>T (p.Pro270=)
c.3219G>T (p.Pro1073=)
c.3195G>T (p.Pro1065=)
c.3162G>T (p.Pro1054=)
c.3105G>T (p.Pro1035=)
c.3204G>T (p.Pro1068=)
c.3180G>T (p.Pro1060=)
c.3015G>T (p.Pro1005=)
c.3177G>T (p.Pro1059=)
1g.16986818C=CA1143898418ATP13A2c.3222G= (p.Pro1074=)
c.3090G= (p.Pro1030=)
c.3207G= (p.Pro1069=)
n.1096G=
c.810G= (p.Pro270=)
c.3219G= (p.Pro1073=)
c.3195G= (p.Pro1065=)
c.3162G= (p.Pro1054=)
c.3105G= (p.Pro1035=)
c.3204G= (p.Pro1068=)
c.3180G= (p.Pro1060=)
c.3015G= (p.Pro1005=)
c.3177G= (p.Pro1059=)
1g.16986818C>GCA636573ATP13A2c.3222G>C (p.Pro1074=)
c.3090G>C (p.Pro1030=)
c.3207G>C (p.Pro1069=)
n.1096G>C
c.810G>C (p.Pro270=)
c.3219G>C (p.Pro1073=)
c.3195G>C (p.Pro1065=)
c.3162G>C (p.Pro1054=)
c.3105G>C (p.Pro1035=)
c.3204G>C (p.Pro1068=)
c.3180G>C (p.Pro1060=)
c.3015G>C (p.Pro1005=)
c.3177G>C (p.Pro1059=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986818C>TCA636572ATP13A2c.3222G>A (p.Pro1074=)
c.3090G>A (p.Pro1030=)
c.3207G>A (p.Pro1069=)
n.1096G>A
c.810G>A (p.Pro270=)
c.3219G>A (p.Pro1073=)
c.3195G>A (p.Pro1065=)
c.3162G>A (p.Pro1054=)
c.3105G>A (p.Pro1035=)
c.3204G>A (p.Pro1068=)
c.3180G>A (p.Pro1060=)
c.3015G>A (p.Pro1005=)
c.3177G>A (p.Pro1059=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986819G>ACA636574ATP13A2c.3221C>T (p.Pro1074Leu)
c.3089C>T (p.Pro1030Leu)
c.3206C>T (p.Pro1069Leu)
n.1095C>T
c.809C>T (p.Pro270Leu)
c.3218C>T (p.Pro1073Leu)
c.3194C>T (p.Pro1065Leu)
c.3161C>T (p.Pro1054Leu)
c.3104C>T (p.Pro1035Leu)
c.3203C>T (p.Pro1068Leu)
c.3179C>T (p.Pro1060Leu)
c.3014C>T (p.Pro1005Leu)
c.3176C>T (p.Pro1059Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.16986819G>CCA338233312ATP13A2c.3221C>G (p.Pro1074Arg)
c.3089C>G (p.Pro1030Arg)
c.3206C>G (p.Pro1069Arg)
n.1095C>G
c.809C>G (p.Pro270Arg)
c.3218C>G (p.Pro1073Arg)
c.3194C>G (p.Pro1065Arg)
c.3161C>G (p.Pro1054Arg)
c.3104C>G (p.Pro1035Arg)
c.3203C>G (p.Pro1068Arg)
c.3179C>G (p.Pro1060Arg)
c.3014C>G (p.Pro1005Arg)
c.3176C>G (p.Pro1059Arg)
1g.16986819G=CA1156050348ATP13A2c.3221C= (p.Pro1074=)
c.3089C= (p.Pro1030=)
c.3206C= (p.Pro1069=)
n.1095C=
c.809C= (p.Pro270=)
c.3218C= (p.Pro1073=)
c.3194C= (p.Pro1065=)
c.3161C= (p.Pro1054=)
c.3104C= (p.Pro1035=)
c.3203C= (p.Pro1068=)
c.3179C= (p.Pro1060=)
c.3014C= (p.Pro1005=)
c.3176C= (p.Pro1059=)
1g.16986819G>TCA338233313ATP13A2c.3221C>A (p.Pro1074Gln)
c.3089C>A (p.Pro1030Gln)
c.3206C>A (p.Pro1069Gln)
n.1095C>A
c.809C>A (p.Pro270Gln)
c.3218C>A (p.Pro1073Gln)
c.3194C>A (p.Pro1065Gln)
c.3161C>A (p.Pro1054Gln)
c.3104C>A (p.Pro1035Gln)
c.3203C>A (p.Pro1068Gln)
c.3179C>A (p.Pro1060Gln)
c.3014C>A (p.Pro1005Gln)
c.3176C>A (p.Pro1059Gln)
1g.16986819_16986820delCA999085388ATP13A2c.3220_3221del (p.Pro1074AlafsTer?)
c.3088_3089del (p.Pro1030AlafsTer5)
c.3205_3206del (p.Pro1069AlafsTer?)
n.1094_1095del
c.808_809del (p.Pro270AlafsTer5)
c.3220_3221del (p.Pro1074AlafsTer5)
c.3217_3218del (p.Pro1073AlafsTer5)
c.3205_3206del (p.Pro1069AlafsTer5)
c.3193_3194del (p.Pro1065AlafsTer5)
c.3160_3161del (p.Pro1054AlafsTer5)
c.3103_3104del (p.Pro1035AlafsTer5)
c.3202_3203del (p.Pro1068AlafsTer5)
c.3178_3179del (p.Pro1060AlafsTer5)
c.3013_3014del (p.Pro1005AlafsTer5)
c.3202_3203del (p.Pro1068AlafsTer?)
c.3178_3179del (p.Pro1060AlafsTer?)
c.3175_3176del (p.Pro1059AlafsTer?)
c.3103_3104del (p.Pro1035AlafsTer?)
c.3088_3089del (p.Pro1030AlafsTer?)
c.3013_3014del (p.Pro1005AlafsTer?)
 gnomAD v3 gnomAD v4
1g.16986820G>ACA338233316ATP13A2c.3220C>T (p.Pro1074Ser)
c.3088C>T (p.Pro1030Ser)
c.3205C>T (p.Pro1069Ser)
n.1094C>T
c.808C>T (p.Pro270Ser)
c.3217C>T (p.Pro1073Ser)
c.3193C>T (p.Pro1065Ser)
c.3160C>T (p.Pro1054Ser)
c.3103C>T (p.Pro1035Ser)
c.3202C>T (p.Pro1068Ser)
c.3178C>T (p.Pro1060Ser)
c.3013C>T (p.Pro1005Ser)
c.3175C>T (p.Pro1059Ser)
1g.16986820G>CCA338233315ATP13A2c.3220C>G (p.Pro1074Ala)
c.3088C>G (p.Pro1030Ala)
c.3205C>G (p.Pro1069Ala)
n.1094C>G
c.808C>G (p.Pro270Ala)
c.3217C>G (p.Pro1073Ala)
c.3193C>G (p.Pro1065Ala)
c.3160C>G (p.Pro1054Ala)
c.3103C>G (p.Pro1035Ala)
c.3202C>G (p.Pro1068Ala)
c.3178C>G (p.Pro1060Ala)
c.3013C>G (p.Pro1005Ala)
c.3175C>G (p.Pro1059Ala)
1g.16986820G>TCA338233314ATP13A2c.3220C>A (p.Pro1074Thr)
c.3088C>A (p.Pro1030Thr)
c.3205C>A (p.Pro1069Thr)
n.1094C>A
c.808C>A (p.Pro270Thr)
c.3217C>A (p.Pro1073Thr)
c.3193C>A (p.Pro1065Thr)
c.3160C>A (p.Pro1054Thr)
c.3103C>A (p.Pro1035Thr)
c.3202C>A (p.Pro1068Thr)
c.3178C>A (p.Pro1060Thr)
c.3013C>A (p.Pro1005Thr)
c.3175C>A (p.Pro1059Thr)
1g.16986821C>ACA416093557ATP13A2c.3219G>T (p.Arg1073=)
c.3087G>T (p.Arg1029=)
c.3204G>T (p.Arg1068=)
n.1093G>T
c.807G>T (p.Arg269=)
c.3216G>T (p.Arg1072=)
c.3192G>T (p.Arg1064=)
c.3159G>T (p.Arg1053=)
c.3102G>T (p.Arg1034=)
c.3201G>T (p.Arg1067=)
c.3177G>T (p.Arg1059=)
c.3012G>T (p.Arg1004=)
c.3174G>T (p.Arg1058=)
1g.16986821C=CA1156050353ATP13A2c.3219G= (p.Arg1073=)
c.3087G= (p.Arg1029=)
c.3204G= (p.Arg1068=)
n.1093G=
c.807G= (p.Arg269=)
c.3216G= (p.Arg1072=)
c.3192G= (p.Arg1064=)
c.3159G= (p.Arg1053=)
c.3102G= (p.Arg1034=)
c.3201G= (p.Arg1067=)
c.3177G= (p.Arg1059=)
c.3012G= (p.Arg1004=)
c.3174G= (p.Arg1058=)
1g.16986821C>GCA416093558ATP13A2c.3219G>C (p.Arg1073=)
c.3087G>C (p.Arg1029=)
c.3204G>C (p.Arg1068=)
n.1093G>C
c.807G>C (p.Arg269=)
c.3216G>C (p.Arg1072=)
c.3192G>C (p.Arg1064=)
c.3159G>C (p.Arg1053=)
c.3102G>C (p.Arg1034=)
c.3201G>C (p.Arg1067=)
c.3177G>C (p.Arg1059=)
c.3012G>C (p.Arg1004=)
c.3174G>C (p.Arg1058=)
 dbSNP gnomAD v2 gnomAD v4
1g.16986821C>TCA416093559ATP13A2c.3219G>A (p.Arg1073=)
c.3087G>A (p.Arg1029=)
c.3204G>A (p.Arg1068=)
n.1093G>A
c.807G>A (p.Arg269=)
c.3216G>A (p.Arg1072=)
c.3192G>A (p.Arg1064=)
c.3159G>A (p.Arg1053=)
c.3102G>A (p.Arg1034=)
c.3201G>A (p.Arg1067=)
c.3177G>A (p.Arg1059=)
c.3012G>A (p.Arg1004=)
c.3174G>A (p.Arg1058=)
 gnomAD v3 gnomAD v4
1g.16986822C>ACA338233318ATP13A2c.3218G>T (p.Arg1073Leu)
c.3086G>T (p.Arg1029Leu)
c.3203G>T (p.Arg1068Leu)
n.1092G>T
c.806G>T (p.Arg269Leu)
c.3215G>T (p.Arg1072Leu)
c.3191G>T (p.Arg1064Leu)
c.3158G>T (p.Arg1053Leu)
c.3101G>T (p.Arg1034Leu)
c.3200G>T (p.Arg1067Leu)
c.3176G>T (p.Arg1059Leu)
c.3011G>T (p.Arg1004Leu)
c.3173G>T (p.Arg1058Leu)
 dbSNP gnomAD v3 gnomAD v4
1g.16986822C=CA1148571456ATP13A2c.3218G= (p.Arg1073=)
c.3086G= (p.Arg1029=)
c.3203G= (p.Arg1068=)
n.1092G=
c.806G= (p.Arg269=)
c.3215G= (p.Arg1072=)
c.3191G= (p.Arg1064=)
c.3158G= (p.Arg1053=)
c.3101G= (p.Arg1034=)
c.3200G= (p.Arg1067=)
c.3176G= (p.Arg1059=)
c.3011G= (p.Arg1004=)
c.3173G= (p.Arg1058=)
1g.16986822C>GCA338233320ATP13A2c.3218G>C (p.Arg1073Pro)
c.3086G>C (p.Arg1029Pro)
c.3203G>C (p.Arg1068Pro)
n.1092G>C
c.806G>C (p.Arg269Pro)
c.3215G>C (p.Arg1072Pro)
c.3191G>C (p.Arg1064Pro)
c.3158G>C (p.Arg1053Pro)
c.3101G>C (p.Arg1034Pro)
c.3200G>C (p.Arg1067Pro)
c.3176G>C (p.Arg1059Pro)
c.3011G>C (p.Arg1004Pro)
c.3173G>C (p.Arg1058Pro)
1g.16986822C>TCA636575ATP13A2c.3218G>A (p.Arg1073Gln)
c.3086G>A (p.Arg1029Gln)
c.3203G>A (p.Arg1068Gln)
n.1092G>A
c.806G>A (p.Arg269Gln)
c.3215G>A (p.Arg1072Gln)
c.3191G>A (p.Arg1064Gln)
c.3158G>A (p.Arg1053Gln)
c.3101G>A (p.Arg1034Gln)
c.3200G>A (p.Arg1067Gln)
c.3176G>A (p.Arg1059Gln)
c.3011G>A (p.Arg1004Gln)
c.3173G>A (p.Arg1058Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986823G>ACA18625632ATP13A2c.3217C>T (p.Arg1073Trp)
c.3085C>T (p.Arg1029Trp)
c.3202C>T (p.Arg1068Trp)
n.1091C>T
c.805C>T (p.Arg269Trp)
c.3214C>T (p.Arg1072Trp)
c.3190C>T (p.Arg1064Trp)
c.3157C>T (p.Arg1053Trp)
c.3100C>T (p.Arg1034Trp)
c.3199C>T (p.Arg1067Trp)
c.3175C>T (p.Arg1059Trp)
c.3010C>T (p.Arg1004Trp)
c.3172C>T (p.Arg1058Trp)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.16986823G>CCA338233321ATP13A2c.3217C>G (p.Arg1073Gly)
c.3085C>G (p.Arg1029Gly)
c.3202C>G (p.Arg1068Gly)
n.1091C>G
c.805C>G (p.Arg269Gly)
c.3214C>G (p.Arg1072Gly)
c.3190C>G (p.Arg1064Gly)
c.3157C>G (p.Arg1053Gly)
c.3100C>G (p.Arg1034Gly)
c.3199C>G (p.Arg1067Gly)
c.3175C>G (p.Arg1059Gly)
c.3010C>G (p.Arg1004Gly)
c.3172C>G (p.Arg1058Gly)
1g.16986823G=CA1156050360ATP13A2c.3217C= (p.Arg1073=)
c.3085C= (p.Arg1029=)
c.3202C= (p.Arg1068=)
n.1091C=
c.805C= (p.Arg269=)
c.3214C= (p.Arg1072=)
c.3190C= (p.Arg1064=)
c.3157C= (p.Arg1053=)
c.3100C= (p.Arg1034=)
c.3199C= (p.Arg1067=)
c.3175C= (p.Arg1059=)
c.3010C= (p.Arg1004=)
c.3172C= (p.Arg1058=)
1g.16986823G>TCA416093560ATP13A2c.3217C>A (p.Arg1073=)
c.3085C>A (p.Arg1029=)
c.3202C>A (p.Arg1068=)
n.1091C>A
c.805C>A (p.Arg269=)
c.3214C>A (p.Arg1072=)
c.3190C>A (p.Arg1064=)
c.3157C>A (p.Arg1053=)
c.3100C>A (p.Arg1034=)
c.3199C>A (p.Arg1067=)
c.3175C>A (p.Arg1059=)
c.3010C>A (p.Arg1004=)
c.3172C>A (p.Arg1058=)
 gnomAD v4
1g.16986824G>ACA416093561ATP13A2c.3216C>T (p.Arg1072=)
c.3084C>T (p.Arg1028=)
c.3201C>T (p.Arg1067=)
n.1090C>T
c.804C>T (p.Arg268=)
c.3213C>T (p.Arg1071=)
c.3189C>T (p.Arg1063=)
c.3156C>T (p.Arg1052=)
c.3099C>T (p.Arg1033=)
c.3198C>T (p.Arg1066=)
c.3174C>T (p.Arg1058=)
c.3009C>T (p.Arg1003=)
c.3171C>T (p.Arg1057=)
 gnomAD v4
1g.16986824G>CCA416093562ATP13A2c.3216C>G (p.Arg1072=)
c.3084C>G (p.Arg1028=)
c.3201C>G (p.Arg1067=)
n.1090C>G
c.804C>G (p.Arg268=)
c.3213C>G (p.Arg1071=)
c.3189C>G (p.Arg1063=)
c.3156C>G (p.Arg1052=)
c.3099C>G (p.Arg1033=)
c.3198C>G (p.Arg1066=)
c.3174C>G (p.Arg1058=)
c.3009C>G (p.Arg1003=)
c.3171C>G (p.Arg1057=)
1g.16986824G>TCA416093563ATP13A2c.3216C>A (p.Arg1072=)
c.3084C>A (p.Arg1028=)
c.3201C>A (p.Arg1067=)
n.1090C>A
c.804C>A (p.Arg268=)
c.3213C>A (p.Arg1071=)
c.3189C>A (p.Arg1063=)
c.3156C>A (p.Arg1052=)
c.3099C>A (p.Arg1033=)
c.3198C>A (p.Arg1066=)
c.3174C>A (p.Arg1058=)
c.3009C>A (p.Arg1003=)
c.3171C>A (p.Arg1057=)
1g.16986825C>ACA338233322ATP13A2c.3215G>T (p.Arg1072Leu)
c.3083G>T (p.Arg1028Leu)
c.3200G>T (p.Arg1067Leu)
n.1089G>T
c.803G>T (p.Arg268Leu)
c.3212G>T (p.Arg1071Leu)
c.3188G>T (p.Arg1063Leu)
c.3155G>T (p.Arg1052Leu)
c.3098G>T (p.Arg1033Leu)
c.3197G>T (p.Arg1066Leu)
c.3173G>T (p.Arg1058Leu)
c.3008G>T (p.Arg1003Leu)
c.3170G>T (p.Arg1057Leu)
1g.16986825C=CA1143780832ATP13A2c.3215G= (p.Arg1072=)
c.3083G= (p.Arg1028=)
c.3200G= (p.Arg1067=)
n.1089G=
c.803G= (p.Arg268=)
c.3212G= (p.Arg1071=)
c.3188G= (p.Arg1063=)
c.3155G= (p.Arg1052=)
c.3098G= (p.Arg1033=)
c.3197G= (p.Arg1066=)
c.3173G= (p.Arg1058=)
c.3008G= (p.Arg1003=)
c.3170G= (p.Arg1057=)
1g.16986825C>GCA338233323ATP13A2c.3215G>C (p.Arg1072Pro)
c.3083G>C (p.Arg1028Pro)
c.3200G>C (p.Arg1067Pro)
n.1089G>C
c.803G>C (p.Arg268Pro)
c.3212G>C (p.Arg1071Pro)
c.3188G>C (p.Arg1063Pro)
c.3155G>C (p.Arg1052Pro)
c.3098G>C (p.Arg1033Pro)
c.3197G>C (p.Arg1066Pro)
c.3173G>C (p.Arg1058Pro)
c.3008G>C (p.Arg1003Pro)
c.3170G>C (p.Arg1057Pro)
1g.16986825C>TCA636576ATP13A2c.3215G>A (p.Arg1072His)
c.3083G>A (p.Arg1028His)
c.3200G>A (p.Arg1067His)
n.1089G>A
c.803G>A (p.Arg268His)
c.3212G>A (p.Arg1071His)
c.3188G>A (p.Arg1063His)
c.3155G>A (p.Arg1052His)
c.3098G>A (p.Arg1033His)
c.3197G>A (p.Arg1066His)
c.3173G>A (p.Arg1058His)
c.3008G>A (p.Arg1003His)
c.3170G>A (p.Arg1057His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986825_16986828delCA999085397ATP13A2c.3212_3215del (p.Phe1071SerfsTer17)
c.3080_3083del (p.Phe1027SerfsTer?)
c.3197_3200del (p.Phe1066SerfsTer17)
n.1086_1089del
c.800_803del (p.Phe267SerfsTer?)
c.3212_3215del (p.Phe1071SerfsTer?)
c.3209_3212del (p.Phe1070SerfsTer?)
c.3197_3200del (p.Phe1066SerfsTer?)
c.3185_3188del (p.Phe1062SerfsTer?)
c.3152_3155del (p.Phe1051SerfsTer?)
c.3095_3098del (p.Phe1032SerfsTer?)
c.3194_3197del (p.Phe1065SerfsTer?)
c.3170_3173del (p.Phe1057SerfsTer?)
c.3005_3008del (p.Phe1002SerfsTer?)
c.3194_3197del (p.Phe1065SerfsTer17)
c.3170_3173del (p.Phe1057SerfsTer17)
c.3167_3170del (p.Phe1056SerfsTer17)
c.3095_3098del (p.Phe1032SerfsTer17)
c.3080_3083del (p.Phe1027SerfsTer17)
c.3005_3008del (p.Phe1002SerfsTer17)
 gnomAD v3 gnomAD v4
1g.16986826G>ACA636577ATP13A2c.3214C>T (p.Arg1072Cys)
c.3082C>T (p.Arg1028Cys)
c.3199C>T (p.Arg1067Cys)
n.1088C>T
c.802C>T (p.Arg268Cys)
c.3211C>T (p.Arg1071Cys)
c.3187C>T (p.Arg1063Cys)
c.3154C>T (p.Arg1052Cys)
c.3097C>T (p.Arg1033Cys)
c.3196C>T (p.Arg1066Cys)
c.3172C>T (p.Arg1058Cys)
c.3007C>T (p.Arg1003Cys)
c.3169C>T (p.Arg1057Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.16986826G>CCA636578ATP13A2c.3214C>G (p.Arg1072Gly)
c.3082C>G (p.Arg1028Gly)
c.3199C>G (p.Arg1067Gly)
n.1088C>G
c.802C>G (p.Arg268Gly)
c.3211C>G (p.Arg1071Gly)
c.3187C>G (p.Arg1063Gly)
c.3154C>G (p.Arg1052Gly)
c.3097C>G (p.Arg1033Gly)
c.3196C>G (p.Arg1066Gly)
c.3172C>G (p.Arg1058Gly)
c.3007C>G (p.Arg1003Gly)
c.3169C>G (p.Arg1057Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16986826G=CA1156050373ATP13A2c.3214C= (p.Arg1072=)
c.3082C= (p.Arg1028=)
c.3199C= (p.Arg1067=)
n.1088C=
c.802C= (p.Arg268=)
c.3211C= (p.Arg1071=)
c.3187C= (p.Arg1063=)
c.3154C= (p.Arg1052=)
c.3097C= (p.Arg1033=)
c.3196C= (p.Arg1066=)
c.3172C= (p.Arg1058=)
c.3007C= (p.Arg1003=)
c.3169C= (p.Arg1057=)
1g.16986826G>TCA338233325ATP13A2c.3214C>A (p.Arg1072Ser)
c.3082C>A (p.Arg1028Ser)
c.3199C>A (p.Arg1067Ser)
n.1088C>A
c.802C>A (p.Arg268Ser)
c.3211C>A (p.Arg1071Ser)
c.3187C>A (p.Arg1063Ser)
c.3154C>A (p.Arg1052Ser)
c.3097C>A (p.Arg1033Ser)
c.3196C>A (p.Arg1066Ser)
c.3172C>A (p.Arg1058Ser)
c.3007C>A (p.Arg1003Ser)
c.3169C>A (p.Arg1057Ser)
1g.16986827G>ACA416093564ATP13A2c.3213C>T (p.Phe1071=)
c.3081C>T (p.Phe1027=)
c.3198C>T (p.Phe1066=)
n.1087C>T
c.801C>T (p.Phe267=)
c.3210C>T (p.Phe1070=)
c.3186C>T (p.Phe1062=)
c.3153C>T (p.Phe1051=)
c.3096C>T (p.Phe1032=)
c.3195C>T (p.Phe1065=)
c.3171C>T (p.Phe1057=)
c.3006C>T (p.Phe1002=)
c.3168C>T (p.Phe1056=)
1g.16986827G>CCA338233327ATP13A2c.3213C>G (p.Phe1071Leu)
c.3081C>G (p.Phe1027Leu)
c.3198C>G (p.Phe1066Leu)
n.1087C>G
c.801C>G (p.Phe267Leu)
c.3210C>G (p.Phe1070Leu)
c.3186C>G (p.Phe1062Leu)
c.3153C>G (p.Phe1051Leu)
c.3096C>G (p.Phe1032Leu)
c.3195C>G (p.Phe1065Leu)
c.3171C>G (p.Phe1057Leu)
c.3006C>G (p.Phe1002Leu)
c.3168C>G (p.Phe1056Leu)
1g.16986827G>TCA338233328ATP13A2c.3213C>A (p.Phe1071Leu)
c.3081C>A (p.Phe1027Leu)
c.3198C>A (p.Phe1066Leu)
n.1087C>A
c.801C>A (p.Phe267Leu)
c.3210C>A (p.Phe1070Leu)
c.3186C>A (p.Phe1062Leu)
c.3153C>A (p.Phe1051Leu)
c.3096C>A (p.Phe1032Leu)
c.3195C>A (p.Phe1065Leu)
c.3171C>A (p.Phe1057Leu)
c.3006C>A (p.Phe1002Leu)
c.3168C>A (p.Phe1056Leu)
1g.16986828A>CCA338233333ATP13A2c.3212T>G (p.Phe1071Cys)
c.3080T>G (p.Phe1027Cys)
c.3197T>G (p.Phe1066Cys)
n.1086T>G
c.800T>G (p.Phe267Cys)
c.3209T>G (p.Phe1070Cys)
c.3185T>G (p.Phe1062Cys)
c.3152T>G (p.Phe1051Cys)
c.3095T>G (p.Phe1032Cys)
c.3194T>G (p.Phe1065Cys)
c.3170T>G (p.Phe1057Cys)
c.3005T>G (p.Phe1002Cys)
c.3167T>G (p.Phe1056Cys)
1g.16986828A>GCA338233334ATP13A2c.3212T>C (p.Phe1071Ser)
c.3080T>C (p.Phe1027Ser)
c.3197T>C (p.Phe1066Ser)
n.1086T>C
c.800T>C (p.Phe267Ser)
c.3209T>C (p.Phe1070Ser)
c.3185T>C (p.Phe1062Ser)
c.3152T>C (p.Phe1051Ser)
c.3095T>C (p.Phe1032Ser)
c.3194T>C (p.Phe1065Ser)
c.3170T>C (p.Phe1057Ser)
c.3005T>C (p.Phe1002Ser)
c.3167T>C (p.Phe1056Ser)
1g.16986828A>TCA338233331ATP13A2c.3212T>A (p.Phe1071Tyr)
c.3080T>A (p.Phe1027Tyr)
c.3197T>A (p.Phe1066Tyr)
n.1086T>A
c.800T>A (p.Phe267Tyr)
c.3209T>A (p.Phe1070Tyr)
c.3185T>A (p.Phe1062Tyr)
c.3152T>A (p.Phe1051Tyr)
c.3095T>A (p.Phe1032Tyr)
c.3194T>A (p.Phe1065Tyr)
c.3170T>A (p.Phe1057Tyr)
c.3005T>A (p.Phe1002Tyr)
c.3167T>A (p.Phe1056Tyr)
1g.16986829A=CA1156050381ATP13A2c.3211T= (p.Phe1071=)
c.3079T= (p.Phe1027=)
c.3196T= (p.Phe1066=)
n.1085T=
c.799T= (p.Phe267=)
c.3208T= (p.Phe1070=)
c.3184T= (p.Phe1062=)
c.3151T= (p.Phe1051=)
c.3094T= (p.Phe1032=)
c.3193T= (p.Phe1065=)
c.3169T= (p.Phe1057=)
c.3004T= (p.Phe1002=)
c.3166T= (p.Phe1056=)
1g.16986829A>CCA338233336ATP13A2c.3211T>G (p.Phe1071Val)
c.3079T>G (p.Phe1027Val)
c.3196T>G (p.Phe1066Val)
n.1085T>G
c.799T>G (p.Phe267Val)
c.3208T>G (p.Phe1070Val)
c.3184T>G (p.Phe1062Val)
c.3151T>G (p.Phe1051Val)
c.3094T>G (p.Phe1032Val)
c.3193T>G (p.Phe1065Val)
c.3169T>G (p.Phe1057Val)
c.3004T>G (p.Phe1002Val)
c.3166T>G (p.Phe1056Val)
 dbSNP
1g.16986829A>GCA338233337ATP13A2c.3211T>C (p.Phe1071Leu)
c.3079T>C (p.Phe1027Leu)
c.3196T>C (p.Phe1066Leu)
n.1085T>C
c.799T>C (p.Phe267Leu)
c.3208T>C (p.Phe1070Leu)
c.3184T>C (p.Phe1062Leu)
c.3151T>C (p.Phe1051Leu)
c.3094T>C (p.Phe1032Leu)
c.3193T>C (p.Phe1065Leu)
c.3169T>C (p.Phe1057Leu)
c.3004T>C (p.Phe1002Leu)
c.3166T>C (p.Phe1056Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986829A>TCA338233339ATP13A2c.3211T>A (p.Phe1071Ile)
c.3079T>A (p.Phe1027Ile)
c.3196T>A (p.Phe1066Ile)
n.1085T>A
c.799T>A (p.Phe267Ile)
c.3208T>A (p.Phe1070Ile)
c.3184T>A (p.Phe1062Ile)
c.3151T>A (p.Phe1051Ile)
c.3094T>A (p.Phe1032Ile)
c.3193T>A (p.Phe1065Ile)
c.3169T>A (p.Phe1057Ile)
c.3004T>A (p.Phe1002Ile)
c.3166T>A (p.Phe1056Ile)
 gnomAD v3 gnomAD v4
1g.16986830G>ACA416093567ATP13A2c.3210C>T (p.Pro1070=)
c.3078C>T (p.Pro1026=)
c.3195C>T (p.Pro1065=)
n.1084C>T
c.798C>T (p.Pro266=)
c.3207C>T (p.Pro1069=)
c.3183C>T (p.Pro1061=)
c.3150C>T (p.Pro1050=)
c.3093C>T (p.Pro1031=)
c.3192C>T (p.Pro1064=)
c.3168C>T (p.Pro1056=)
c.3003C>T (p.Pro1001=)
c.3165C>T (p.Pro1055=)
 dbSNP gnomAD v4
1g.16986830G>CCA416093565ATP13A2c.3210C>G (p.Pro1070=)
c.3078C>G (p.Pro1026=)
c.3195C>G (p.Pro1065=)
n.1084C>G
c.798C>G (p.Pro266=)
c.3207C>G (p.Pro1069=)
c.3183C>G (p.Pro1061=)
c.3150C>G (p.Pro1050=)
c.3093C>G (p.Pro1031=)
c.3192C>G (p.Pro1064=)
c.3168C>G (p.Pro1056=)
c.3003C>G (p.Pro1001=)
c.3165C>G (p.Pro1055=)
1g.16986830G=CA1156050384ATP13A2c.3210C= (p.Pro1070=)
c.3078C= (p.Pro1026=)
c.3195C= (p.Pro1065=)
n.1084C=
c.798C= (p.Pro266=)
c.3207C= (p.Pro1069=)
c.3183C= (p.Pro1061=)
c.3150C= (p.Pro1050=)
c.3093C= (p.Pro1031=)
c.3192C= (p.Pro1064=)
c.3168C= (p.Pro1056=)
c.3003C= (p.Pro1001=)
c.3165C= (p.Pro1055=)
1g.16986830G>TCA416093566ATP13A2c.3210C>A (p.Pro1070=)
c.3078C>A (p.Pro1026=)
c.3195C>A (p.Pro1065=)
n.1084C>A
c.798C>A (p.Pro266=)
c.3207C>A (p.Pro1069=)
c.3183C>A (p.Pro1061=)
c.3150C>A (p.Pro1050=)
c.3093C>A (p.Pro1031=)
c.3192C>A (p.Pro1064=)
c.3168C>A (p.Pro1056=)
c.3003C>A (p.Pro1001=)
c.3165C>A (p.Pro1055=)
1g.16986831G>ACA338233342ATP13A2c.3209C>T (p.Pro1070Leu)
c.3077C>T (p.Pro1026Leu)
c.3194C>T (p.Pro1065Leu)
n.1083C>T
c.797C>T (p.Pro266Leu)
c.3206C>T (p.Pro1069Leu)
c.3182C>T (p.Pro1061Leu)
c.3149C>T (p.Pro1050Leu)
c.3092C>T (p.Pro1031Leu)
c.3191C>T (p.Pro1064Leu)
c.3167C>T (p.Pro1056Leu)
c.3002C>T (p.Pro1001Leu)
c.3164C>T (p.Pro1055Leu)
1g.16986831G>CCA338233344ATP13A2c.3209C>G (p.Pro1070Arg)
c.3077C>G (p.Pro1026Arg)
c.3194C>G (p.Pro1065Arg)
n.1083C>G
c.797C>G (p.Pro266Arg)
c.3206C>G (p.Pro1069Arg)
c.3182C>G (p.Pro1061Arg)
c.3149C>G (p.Pro1050Arg)
c.3092C>G (p.Pro1031Arg)
c.3191C>G (p.Pro1064Arg)
c.3167C>G (p.Pro1056Arg)
c.3002C>G (p.Pro1001Arg)
c.3164C>G (p.Pro1055Arg)
1g.16986831G>TCA338233347ATP13A2c.3209C>A (p.Pro1070His)
c.3077C>A (p.Pro1026His)
c.3194C>A (p.Pro1065His)
n.1083C>A
c.797C>A (p.Pro266His)
c.3206C>A (p.Pro1069His)
c.3182C>A (p.Pro1061His)
c.3149C>A (p.Pro1050His)
c.3092C>A (p.Pro1031His)
c.3191C>A (p.Pro1064His)
c.3167C>A (p.Pro1056His)
c.3002C>A (p.Pro1001His)
c.3164C>A (p.Pro1055His)
1g.16986832G>ACA338233349ATP13A2c.3208C>T (p.Pro1070Ser)
c.3076C>T (p.Pro1026Ser)
c.3193C>T (p.Pro1065Ser)
n.1082C>T
c.796C>T (p.Pro266Ser)
c.3205C>T (p.Pro1069Ser)
c.3181C>T (p.Pro1061Ser)
c.3148C>T (p.Pro1050Ser)
c.3091C>T (p.Pro1031Ser)
c.3190C>T (p.Pro1064Ser)
c.3166C>T (p.Pro1056Ser)
c.3001C>T (p.Pro1001Ser)
c.3163C>T (p.Pro1055Ser)
1g.16986832G>CCA338233352ATP13A2c.3208C>G (p.Pro1070Ala)
c.3076C>G (p.Pro1026Ala)
c.3193C>G (p.Pro1065Ala)
n.1082C>G
c.796C>G (p.Pro266Ala)
c.3205C>G (p.Pro1069Ala)
c.3181C>G (p.Pro1061Ala)
c.3148C>G (p.Pro1050Ala)
c.3091C>G (p.Pro1031Ala)
c.3190C>G (p.Pro1064Ala)
c.3166C>G (p.Pro1056Ala)
c.3001C>G (p.Pro1001Ala)
c.3163C>G (p.Pro1055Ala)
1g.16986832G=CA1156050387ATP13A2c.3208C= (p.Pro1070=)
c.3076C= (p.Pro1026=)
c.3193C= (p.Pro1065=)
n.1082C=
c.796C= (p.Pro266=)
c.3205C= (p.Pro1069=)
c.3181C= (p.Pro1061=)
c.3148C= (p.Pro1050=)
c.3091C= (p.Pro1031=)
c.3190C= (p.Pro1064=)
c.3166C= (p.Pro1056=)
c.3001C= (p.Pro1001=)
c.3163C= (p.Pro1055=)
1g.16986832G>TCA338233354ATP13A2c.3208C>A (p.Pro1070Thr)
c.3076C>A (p.Pro1026Thr)
c.3193C>A (p.Pro1065Thr)
n.1082C>A
c.796C>A (p.Pro266Thr)
c.3205C>A (p.Pro1069Thr)
c.3181C>A (p.Pro1061Thr)
c.3148C>A (p.Pro1050Thr)
c.3091C>A (p.Pro1031Thr)
c.3190C>A (p.Pro1064Thr)
c.3166C>A (p.Pro1056Thr)
c.3001C>A (p.Pro1001Thr)
c.3163C>A (p.Pro1055Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986833C>ACA18625640ATP13A2c.3207G>T (p.Ala1069=)
c.3075G>T (p.Ala1025=)
c.3192G>T (p.Ala1064=)
n.1081G>T
c.795G>T (p.Ala265=)
c.3204G>T (p.Ala1068=)
c.3180G>T (p.Ala1060=)
c.3147G>T (p.Ala1049=)
c.3090G>T (p.Ala1030=)
c.3189G>T (p.Ala1063=)
c.3165G>T (p.Ala1055=)
c.3000G>T (p.Ala1000=)
c.3162G>T (p.Ala1054=)
 ClinVar dbSNP gnomAD v4
1g.16986833C=CA1141581613ATP13A2c.3207G= (p.Ala1069=)
c.3075G= (p.Ala1025=)
c.3192G= (p.Ala1064=)
n.1081G=
c.795G= (p.Ala265=)
c.3204G= (p.Ala1068=)
c.3180G= (p.Ala1060=)
c.3147G= (p.Ala1049=)
c.3090G= (p.Ala1030=)
c.3189G= (p.Ala1063=)
c.3165G= (p.Ala1055=)
c.3000G= (p.Ala1000=)
c.3162G= (p.Ala1054=)
1g.16986833C>GCA416093570ATP13A2c.3207G>C (p.Ala1069=)
c.3075G>C (p.Ala1025=)
c.3192G>C (p.Ala1064=)
n.1081G>C
c.795G>C (p.Ala265=)
c.3204G>C (p.Ala1068=)
c.3180G>C (p.Ala1060=)
c.3147G>C (p.Ala1049=)
c.3090G>C (p.Ala1030=)
c.3189G>C (p.Ala1063=)
c.3165G>C (p.Ala1055=)
c.3000G>C (p.Ala1000=)
c.3162G>C (p.Ala1054=)
1g.16986833C>TCA636579ATP13A2c.3207G>A (p.Ala1069=)
c.3075G>A (p.Ala1025=)
c.3192G>A (p.Ala1064=)
n.1081G>A
c.795G>A (p.Ala265=)
c.3204G>A (p.Ala1068=)
c.3180G>A (p.Ala1060=)
c.3147G>A (p.Ala1049=)
c.3090G>A (p.Ala1030=)
c.3189G>A (p.Ala1063=)
c.3165G>A (p.Ala1055=)
c.3000G>A (p.Ala1000=)
c.3162G>A (p.Ala1054=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.16986834G>ACA338233358ATP13A2c.3206C>T (p.Ala1069Val)
c.3074C>T (p.Ala1025Val)
c.3191C>T (p.Ala1064Val)
n.1080C>T
c.794C>T (p.Ala265Val)
c.3203C>T (p.Ala1068Val)
c.3179C>T (p.Ala1060Val)
c.3146C>T (p.Ala1049Val)
c.3089C>T (p.Ala1030Val)
c.3188C>T (p.Ala1063Val)
c.3164C>T (p.Ala1055Val)
c.2999C>T (p.Ala1000Val)
c.3161C>T (p.Ala1054Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.16986834G>CCA18625642ATP13A2c.3206C>G (p.Ala1069Gly)
c.3074C>G (p.Ala1025Gly)
c.3191C>G (p.Ala1064Gly)
n.1080C>G
c.794C>G (p.Ala265Gly)
c.3203C>G (p.Ala1068Gly)
c.3179C>G (p.Ala1060Gly)
c.3146C>G (p.Ala1049Gly)
c.3089C>G (p.Ala1030Gly)
c.3188C>G (p.Ala1063Gly)
c.3164C>G (p.Ala1055Gly)
c.2999C>G (p.Ala1000Gly)
c.3161C>G (p.Ala1054Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986834G=CA1156050400ATP13A2c.3206C= (p.Ala1069=)
c.3074C= (p.Ala1025=)
c.3191C= (p.Ala1064=)
n.1080C=
c.794C= (p.Ala265=)
c.3203C= (p.Ala1068=)
c.3179C= (p.Ala1060=)
c.3146C= (p.Ala1049=)
c.3089C= (p.Ala1030=)
c.3188C= (p.Ala1063=)
c.3164C= (p.Ala1055=)
c.2999C= (p.Ala1000=)
c.3161C= (p.Ala1054=)
1g.16986834G>TCA338233361ATP13A2c.3206C>A (p.Ala1069Glu)
c.3074C>A (p.Ala1025Glu)
c.3191C>A (p.Ala1064Glu)
n.1080C>A
c.794C>A (p.Ala265Glu)
c.3203C>A (p.Ala1068Glu)
c.3179C>A (p.Ala1060Glu)
c.3146C>A (p.Ala1049Glu)
c.3089C>A (p.Ala1030Glu)
c.3188C>A (p.Ala1063Glu)
c.3164C>A (p.Ala1055Glu)
c.2999C>A (p.Ala1000Glu)
c.3161C>A (p.Ala1054Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.16986835C>ACA338233365ATP13A2c.3205G>T (p.Ala1069Ser)
c.3073G>T (p.Ala1025Ser)
c.3190G>T (p.Ala1064Ser)
n.1079G>T
c.793G>T (p.Ala265Ser)
c.3202G>T (p.Ala1068Ser)
c.3178G>T (p.Ala1060Ser)
c.3145G>T (p.Ala1049Ser)
c.3088G>T (p.Ala1030Ser)
c.3187G>T (p.Ala1063Ser)
c.3163G>T (p.Ala1055Ser)
c.2998G>T (p.Ala1000Ser)
c.3160G>T (p.Ala1054Ser)
1g.16986835C=CA1156050406ATP13A2c.3205G= (p.Ala1069=)
c.3073G= (p.Ala1025=)
c.3190G= (p.Ala1064=)
n.1079G=
c.793G= (p.Ala265=)
c.3202G= (p.Ala1068=)
c.3178G= (p.Ala1060=)
c.3145G= (p.Ala1049=)
c.3088G= (p.Ala1030=)
c.3187G= (p.Ala1063=)
c.3163G= (p.Ala1055=)
c.2998G= (p.Ala1000=)
c.3160G= (p.Ala1054=)
1g.16986835C>GCA338233364ATP13A2c.3205G>C (p.Ala1069Pro)
c.3073G>C (p.Ala1025Pro)
c.3190G>C (p.Ala1064Pro)
n.1079G>C
c.793G>C (p.Ala265Pro)
c.3202G>C (p.Ala1068Pro)
c.3178G>C (p.Ala1060Pro)
c.3145G>C (p.Ala1049Pro)
c.3088G>C (p.Ala1030Pro)
c.3187G>C (p.Ala1063Pro)
c.3163G>C (p.Ala1055Pro)
c.2998G>C (p.Ala1000Pro)
c.3160G>C (p.Ala1054Pro)
1g.16986835C>TCA636580ATP13A2c.3205G>A (p.Ala1069Thr)
c.3073G>A (p.Ala1025Thr)
c.3190G>A (p.Ala1064Thr)
n.1079G>A
c.793G>A (p.Ala265Thr)
c.3202G>A (p.Ala1068Thr)
c.3178G>A (p.Ala1060Thr)
c.3145G>A (p.Ala1049Thr)
c.3088G>A (p.Ala1030Thr)
c.3187G>A (p.Ala1063Thr)
c.3163G>A (p.Ala1055Thr)
c.2998G>A (p.Ala1000Thr)
c.3160G>A (p.Ala1054Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986839delCA2643671201ATP13A2c.3205del (p.Ala1069ArgfsTer20)
c.3073del (p.Ala1025ArgfsTer?)
c.3190del (p.Ala1064ArgfsTer20)
n.1079del
c.793del (p.Ala265ArgfsTer?)
c.3205del (p.Ala1069ArgfsTer?)
c.3202del (p.Ala1068ArgfsTer?)
c.3190del (p.Ala1064ArgfsTer?)
c.3178del (p.Ala1060ArgfsTer?)
c.3145del (p.Ala1049ArgfsTer?)
c.3088del (p.Ala1030ArgfsTer?)
c.3187del (p.Ala1063ArgfsTer?)
c.3163del (p.Ala1055ArgfsTer?)
c.2998del (p.Ala1000ArgfsTer?)
c.3187del (p.Ala1063ArgfsTer20)
c.3163del (p.Ala1055ArgfsTer20)
c.3160del (p.Ala1054ArgfsTer20)
c.3088del (p.Ala1030ArgfsTer20)
c.3073del (p.Ala1025ArgfsTer20)
c.2998del (p.Ala1000ArgfsTer20)
 gnomAD v4
1g.16986838_16986839delCA2742638087ATP13A2c.3204_3205del (p.Pro1070LeufsTer?)
c.3072_3073del (p.Pro1026LeufsTer9)
c.3189_3190del (p.Pro1065LeufsTer?)
n.1078_1079del
c.792_793del (p.Pro266LeufsTer9)
c.3204_3205del (p.Pro1070LeufsTer9)
c.3201_3202del (p.Pro1069LeufsTer9)
c.3189_3190del (p.Pro1065LeufsTer9)
c.3177_3178del (p.Pro1061LeufsTer9)
c.3144_3145del (p.Pro1050LeufsTer9)
c.3087_3088del (p.Pro1031LeufsTer9)
c.3186_3187del (p.Pro1064LeufsTer9)
c.3162_3163del (p.Pro1056LeufsTer9)
c.2997_2998del (p.Pro1001LeufsTer9)
c.3186_3187del (p.Pro1064LeufsTer?)
c.3162_3163del (p.Pro1056LeufsTer?)
c.3159_3160del (p.Pro1055LeufsTer?)
c.3087_3088del (p.Pro1031LeufsTer?)
c.3072_3073del (p.Pro1026LeufsTer?)
c.2997_2998del (p.Pro1001LeufsTer?)
1g.16986836C>ACA416093571ATP13A2c.3204G>T (p.Gly1068=)
c.3072G>T (p.Gly1024=)
c.3189G>T (p.Gly1063=)
n.1078G>T
c.792G>T (p.Gly264=)
c.3201G>T (p.Gly1067=)
c.3177G>T (p.Gly1059=)
c.3144G>T (p.Gly1048=)
c.3087G>T (p.Gly1029=)
c.3186G>T (p.Gly1062=)
c.3162G>T (p.Gly1054=)
c.2997G>T (p.Gly999=)
c.3159G>T (p.Gly1053=)
1g.16986836C>GCA416093572ATP13A2c.3204G>C (p.Gly1068=)
c.3072G>C (p.Gly1024=)
c.3189G>C (p.Gly1063=)
n.1078G>C
c.792G>C (p.Gly264=)
c.3201G>C (p.Gly1067=)
c.3177G>C (p.Gly1059=)
c.3144G>C (p.Gly1048=)
c.3087G>C (p.Gly1029=)
c.3186G>C (p.Gly1062=)
c.3162G>C (p.Gly1054=)
c.2997G>C (p.Gly999=)
c.3159G>C (p.Gly1053=)
1g.16986836C>TCA416093573ATP13A2c.3204G>A (p.Gly1068=)
c.3072G>A (p.Gly1024=)
c.3189G>A (p.Gly1063=)
n.1078G>A
c.792G>A (p.Gly264=)
c.3201G>A (p.Gly1067=)
c.3177G>A (p.Gly1059=)
c.3144G>A (p.Gly1048=)
c.3087G>A (p.Gly1029=)
c.3186G>A (p.Gly1062=)
c.3162G>A (p.Gly1054=)
c.2997G>A (p.Gly999=)
c.3159G>A (p.Gly1053=)
1g.16986837C>ACA338233367ATP13A2c.3203G>T (p.Gly1068Val)
c.3071G>T (p.Gly1024Val)
c.3188G>T (p.Gly1063Val)
n.1077G>T
c.791G>T (p.Gly264Val)
c.3200G>T (p.Gly1067Val)
c.3176G>T (p.Gly1059Val)
c.3143G>T (p.Gly1048Val)
c.3086G>T (p.Gly1029Val)
c.3185G>T (p.Gly1062Val)
c.3161G>T (p.Gly1054Val)
c.2996G>T (p.Gly999Val)
c.3158G>T (p.Gly1053Val)
 dbSNP
1g.16986837C=CA1156050409ATP13A2c.3203G= (p.Gly1068=)
c.3071G= (p.Gly1024=)
c.3188G= (p.Gly1063=)
n.1077G=
c.791G= (p.Gly264=)
c.3200G= (p.Gly1067=)
c.3176G= (p.Gly1059=)
c.3143G= (p.Gly1048=)
c.3086G= (p.Gly1029=)
c.3185G= (p.Gly1062=)
c.3161G= (p.Gly1054=)
c.2996G= (p.Gly999=)
c.3158G= (p.Gly1053=)
1g.16986837C>GCA338233368ATP13A2c.3203G>C (p.Gly1068Ala)
c.3071G>C (p.Gly1024Ala)
c.3188G>C (p.Gly1063Ala)
n.1077G>C
c.791G>C (p.Gly264Ala)
c.3200G>C (p.Gly1067Ala)
c.3176G>C (p.Gly1059Ala)
c.3143G>C (p.Gly1048Ala)
c.3086G>C (p.Gly1029Ala)
c.3185G>C (p.Gly1062Ala)
c.3161G>C (p.Gly1054Ala)
c.2996G>C (p.Gly999Ala)
c.3158G>C (p.Gly1053Ala)
1g.16986837C>TCA338233371ATP13A2c.3203G>A (p.Gly1068Glu)
c.3071G>A (p.Gly1024Glu)
c.3188G>A (p.Gly1063Glu)
n.1077G>A
c.791G>A (p.Gly264Glu)
c.3200G>A (p.Gly1067Glu)
c.3176G>A (p.Gly1059Glu)
c.3143G>A (p.Gly1048Glu)
c.3086G>A (p.Gly1029Glu)
c.3185G>A (p.Gly1062Glu)
c.3161G>A (p.Gly1054Glu)
c.2996G>A (p.Gly999Glu)
c.3158G>A (p.Gly1053Glu)
 dbSNP gnomAD v2 gnomAD v4
1g.16986837_16986842delCA999085422ATP13A2c.3198_3203del (p.Lys1067_Gly1068del)
c.3066_3071del (p.Lys1023_Gly1024del)
c.3183_3188del (p.Lys1062_Gly1063del)
n.1072_1077del
c.786_791del (p.Lys263_Gly264del)
c.3195_3200del (p.Lys1066_Gly1067del)
c.3171_3176del (p.Lys1058_Gly1059del)
c.3138_3143del (p.Lys1047_Gly1048del)
c.3081_3086del (p.Lys1028_Gly1029del)
c.3180_3185del (p.Lys1061_Gly1062del)
c.3156_3161del (p.Lys1053_Gly1054del)
c.2991_2996del (p.Lys998_Gly999del)
c.3153_3158del (p.Lys1052_Gly1053del)
 gnomAD v3 gnomAD v4
1g.16986838C>ACA338233374ATP13A2c.3202G>T (p.Gly1068Trp)
c.3070G>T (p.Gly1024Trp)
c.3187G>T (p.Gly1063Trp)
n.1076G>T
c.790G>T (p.Gly264Trp)
c.3199G>T (p.Gly1067Trp)
c.3175G>T (p.Gly1059Trp)
c.3142G>T (p.Gly1048Trp)
c.3085G>T (p.Gly1029Trp)
c.3184G>T (p.Gly1062Trp)
c.3160G>T (p.Gly1054Trp)
c.2995G>T (p.Gly999Trp)
c.3157G>T (p.Gly1053Trp)
1g.16986838C=CA1156050414ATP13A2c.3202G= (p.Gly1068=)
c.3070G= (p.Gly1024=)
c.3187G= (p.Gly1063=)
n.1076G=
c.790G= (p.Gly264=)
c.3199G= (p.Gly1067=)
c.3175G= (p.Gly1059=)
c.3142G= (p.Gly1048=)
c.3085G= (p.Gly1029=)
c.3184G= (p.Gly1062=)
c.3160G= (p.Gly1054=)
c.2995G= (p.Gly999=)
c.3157G= (p.Gly1053=)
1g.16986838C>GCA338233376ATP13A2c.3202G>C (p.Gly1068Arg)
c.3070G>C (p.Gly1024Arg)
c.3187G>C (p.Gly1063Arg)
n.1076G>C
c.790G>C (p.Gly264Arg)
c.3199G>C (p.Gly1067Arg)
c.3175G>C (p.Gly1059Arg)
c.3142G>C (p.Gly1048Arg)
c.3085G>C (p.Gly1029Arg)
c.3184G>C (p.Gly1062Arg)
c.3160G>C (p.Gly1054Arg)
c.2995G>C (p.Gly999Arg)
c.3157G>C (p.Gly1053Arg)
 dbSNP gnomAD v2
1g.16986838C>TCA338233377ATP13A2c.3202G>A (p.Gly1068Arg)
c.3070G>A (p.Gly1024Arg)
c.3187G>A (p.Gly1063Arg)
n.1076G>A
c.790G>A (p.Gly264Arg)
c.3199G>A (p.Gly1067Arg)
c.3175G>A (p.Gly1059Arg)
c.3142G>A (p.Gly1048Arg)
c.3085G>A (p.Gly1029Arg)
c.3184G>A (p.Gly1062Arg)
c.3160G>A (p.Gly1054Arg)
c.2995G>A (p.Gly999Arg)
c.3157G>A (p.Gly1053Arg)
 gnomAD v4
1g.16986839C>ACA338233379ATP13A2c.3201G>T (p.Lys1067Asn)
c.3069G>T (p.Lys1023Asn)
c.3186G>T (p.Lys1062Asn)
n.1075G>T
c.789G>T (p.Lys263Asn)
c.3198G>T (p.Lys1066Asn)
c.3174G>T (p.Lys1058Asn)
c.3141G>T (p.Lys1047Asn)
c.3084G>T (p.Lys1028Asn)
c.3183G>T (p.Lys1061Asn)
c.3159G>T (p.Lys1053Asn)
c.2994G>T (p.Lys998Asn)
c.3156G>T (p.Lys1052Asn)
1g.16986839C>GCA338233382ATP13A2c.3201G>C (p.Lys1067Asn)
c.3069G>C (p.Lys1023Asn)
c.3186G>C (p.Lys1062Asn)
n.1075G>C
c.789G>C (p.Lys263Asn)
c.3198G>C (p.Lys1066Asn)
c.3174G>C (p.Lys1058Asn)
c.3141G>C (p.Lys1047Asn)
c.3084G>C (p.Lys1028Asn)
c.3183G>C (p.Lys1061Asn)
c.3159G>C (p.Lys1053Asn)
c.2994G>C (p.Lys998Asn)
c.3156G>C (p.Lys1052Asn)
1g.16986839C>TCA416093577ATP13A2c.3201G>A (p.Lys1067=)
c.3069G>A (p.Lys1023=)
c.3186G>A (p.Lys1062=)
n.1075G>A
c.789G>A (p.Lys263=)
c.3198G>A (p.Lys1066=)
c.3174G>A (p.Lys1058=)
c.3141G>A (p.Lys1047=)
c.3084G>A (p.Lys1028=)
c.3183G>A (p.Lys1061=)
c.3159G>A (p.Lys1053=)
c.2994G>A (p.Lys998=)
c.3156G>A (p.Lys1052=)
1g.16986840T>ACA338233388ATP13A2c.3200A>T (p.Lys1067Met)
c.3068A>T (p.Lys1023Met)
c.3185A>T (p.Lys1062Met)
n.1074A>T
c.788A>T (p.Lys263Met)
c.3197A>T (p.Lys1066Met)
c.3173A>T (p.Lys1058Met)
c.3140A>T (p.Lys1047Met)
c.3083A>T (p.Lys1028Met)
c.3182A>T (p.Lys1061Met)
c.3158A>T (p.Lys1053Met)
c.2993A>T (p.Lys998Met)
c.3155A>T (p.Lys1052Met)
 gnomAD v4
1g.16986840T>CCA338233389ATP13A2c.3200A>G (p.Lys1067Arg)
c.3068A>G (p.Lys1023Arg)
c.3185A>G (p.Lys1062Arg)
n.1074A>G
c.788A>G (p.Lys263Arg)
c.3197A>G (p.Lys1066Arg)
c.3173A>G (p.Lys1058Arg)
c.3140A>G (p.Lys1047Arg)
c.3083A>G (p.Lys1028Arg)
c.3182A>G (p.Lys1061Arg)
c.3158A>G (p.Lys1053Arg)
c.2993A>G (p.Lys998Arg)
c.3155A>G (p.Lys1052Arg)
1g.16986840T>GCA338233391ATP13A2c.3200A>C (p.Lys1067Thr)
c.3068A>C (p.Lys1023Thr)
c.3185A>C (p.Lys1062Thr)
n.1074A>C
c.788A>C (p.Lys263Thr)
c.3197A>C (p.Lys1066Thr)
c.3173A>C (p.Lys1058Thr)
c.3140A>C (p.Lys1047Thr)
c.3083A>C (p.Lys1028Thr)
c.3182A>C (p.Lys1061Thr)
c.3158A>C (p.Lys1053Thr)
c.2993A>C (p.Lys998Thr)
c.3155A>C (p.Lys1052Thr)
1g.16986841T>ACA338233394ATP13A2c.3199A>T (p.Lys1067Ter)
c.3067A>T (p.Lys1023Ter)
c.3184A>T (p.Lys1062Ter)
n.1073A>T
c.787A>T (p.Lys263Ter)
c.3196A>T (p.Lys1066Ter)
c.3172A>T (p.Lys1058Ter)
c.3139A>T (p.Lys1047Ter)
c.3082A>T (p.Lys1028Ter)
c.3181A>T (p.Lys1061Ter)
c.3157A>T (p.Lys1053Ter)
c.2992A>T (p.Lys998Ter)
c.3154A>T (p.Lys1052Ter)
1g.16986841T>CCA338233396ATP13A2c.3199A>G (p.Lys1067Glu)
c.3067A>G (p.Lys1023Glu)
c.3184A>G (p.Lys1062Glu)
n.1073A>G
c.787A>G (p.Lys263Glu)
c.3196A>G (p.Lys1066Glu)
c.3172A>G (p.Lys1058Glu)
c.3139A>G (p.Lys1047Glu)
c.3082A>G (p.Lys1028Glu)
c.3181A>G (p.Lys1061Glu)
c.3157A>G (p.Lys1053Glu)
c.2992A>G (p.Lys998Glu)
c.3154A>G (p.Lys1052Glu)
1g.16986841T>GCA338233397ATP13A2c.3199A>C (p.Lys1067Gln)
c.3067A>C (p.Lys1023Gln)
c.3184A>C (p.Lys1062Gln)
n.1073A>C
c.787A>C (p.Lys263Gln)
c.3196A>C (p.Lys1066Gln)
c.3172A>C (p.Lys1058Gln)
c.3139A>C (p.Lys1047Gln)
c.3082A>C (p.Lys1028Gln)
c.3181A>C (p.Lys1061Gln)
c.3157A>C (p.Lys1053Gln)
c.2992A>C (p.Lys998Gln)
c.3154A>C (p.Lys1052Gln)
1g.16986842G>ACA416093579ATP13A2c.3198C>T (p.Ser1066=)
c.3066C>T (p.Ser1022=)
c.3183C>T (p.Ser1061=)
n.1072C>T
c.786C>T (p.Ser262=)
c.3195C>T (p.Ser1065=)
c.3171C>T (p.Ser1057=)
c.3138C>T (p.Ser1046=)
c.3081C>T (p.Ser1027=)
c.3180C>T (p.Ser1060=)
c.3156C>T (p.Ser1052=)
c.2991C>T (p.Ser997=)
c.3153C>T (p.Ser1051=)
 gnomAD v4
1g.16986842G>CCA416093581ATP13A2c.3198C>G (p.Ser1066=)
c.3066C>G (p.Ser1022=)
c.3183C>G (p.Ser1061=)
n.1072C>G
c.786C>G (p.Ser262=)
c.3195C>G (p.Ser1065=)
c.3171C>G (p.Ser1057=)
c.3138C>G (p.Ser1046=)
c.3081C>G (p.Ser1027=)
c.3180C>G (p.Ser1060=)
c.3156C>G (p.Ser1052=)
c.2991C>G (p.Ser997=)
c.3153C>G (p.Ser1051=)
1g.16986842G>TCA416093583ATP13A2c.3198C>A (p.Ser1066=)
c.3066C>A (p.Ser1022=)
c.3183C>A (p.Ser1061=)
n.1072C>A
c.786C>A (p.Ser262=)
c.3195C>A (p.Ser1065=)
c.3171C>A (p.Ser1057=)
c.3138C>A (p.Ser1046=)
c.3081C>A (p.Ser1027=)
c.3180C>A (p.Ser1060=)
c.3156C>A (p.Ser1052=)
c.2991C>A (p.Ser997=)
c.3153C>A (p.Ser1051=)
1g.16986843G>ACA338233400ATP13A2c.3197C>T (p.Ser1066Phe)
c.3065C>T (p.Ser1022Phe)
c.3182C>T (p.Ser1061Phe)
n.1071C>T
c.785C>T (p.Ser262Phe)
c.3194C>T (p.Ser1065Phe)
c.3170C>T (p.Ser1057Phe)
c.3137C>T (p.Ser1046Phe)
c.3080C>T (p.Ser1027Phe)
c.3179C>T (p.Ser1060Phe)
c.3155C>T (p.Ser1052Phe)
c.2990C>T (p.Ser997Phe)
c.3152C>T (p.Ser1051Phe)
 dbSNP gnomAD v2 gnomAD v4
1g.16986843G>CCA338233402ATP13A2c.3197C>G (p.Ser1066Cys)
c.3065C>G (p.Ser1022Cys)
c.3182C>G (p.Ser1061Cys)
n.1071C>G
c.785C>G (p.Ser262Cys)
c.3194C>G (p.Ser1065Cys)
c.3170C>G (p.Ser1057Cys)
c.3137C>G (p.Ser1046Cys)
c.3080C>G (p.Ser1027Cys)
c.3179C>G (p.Ser1060Cys)
c.3155C>G (p.Ser1052Cys)
c.2990C>G (p.Ser997Cys)
c.3152C>G (p.Ser1051Cys)
1g.16986843G=CA1156050417ATP13A2c.3197C= (p.Ser1066=)
c.3065C= (p.Ser1022=)
c.3182C= (p.Ser1061=)
n.1071C=
c.785C= (p.Ser262=)
c.3194C= (p.Ser1065=)
c.3170C= (p.Ser1057=)
c.3137C= (p.Ser1046=)
c.3080C= (p.Ser1027=)
c.3179C= (p.Ser1060=)
c.3155C= (p.Ser1052=)
c.2990C= (p.Ser997=)
c.3152C= (p.Ser1051=)
1g.16986843G>TCA338233399ATP13A2c.3197C>A (p.Ser1066Tyr)
c.3065C>A (p.Ser1022Tyr)
c.3182C>A (p.Ser1061Tyr)
n.1071C>A
c.785C>A (p.Ser262Tyr)
c.3194C>A (p.Ser1065Tyr)
c.3170C>A (p.Ser1057Tyr)
c.3137C>A (p.Ser1046Tyr)
c.3080C>A (p.Ser1027Tyr)
c.3179C>A (p.Ser1060Tyr)
c.3155C>A (p.Ser1052Tyr)
c.2990C>A (p.Ser997Tyr)
c.3152C>A (p.Ser1051Tyr)
1g.16986843_16986844insTATCATTAAAAACA999085425ATP13A2c.3196_3197insTTTTTAATGATA (p.Ser1066delinsPhePheAsnAspThr)
c.3064_3065insTTTTTAATGATA (p.Ser1022delinsPhePheAsnAspThr)
c.3181_3182insTTTTTAATGATA (p.Ser1061delinsPhePheAsnAspThr)
n.1070_1071insTTTTTAATGATA
c.784_785insTTTTTAATGATA (p.Ser262delinsPhePheAsnAspThr)
c.3193_3194insTTTTTAATGATA (p.Ser1065delinsPhePheAsnAspThr)
c.3169_3170insTTTTTAATGATA (p.Ser1057delinsPhePheAsnAspThr)
c.3136_3137insTTTTTAATGATA (p.Ser1046delinsPhePheAsnAspThr)
c.3079_3080insTTTTTAATGATA (p.Ser1027delinsPhePheAsnAspThr)
c.3178_3179insTTTTTAATGATA (p.Ser1060delinsPhePheAsnAspThr)
c.3154_3155insTTTTTAATGATA (p.Ser1052delinsPhePheAsnAspThr)
c.2989_2990insTTTTTAATGATA (p.Ser997delinsPhePheAsnAspThr)
c.3151_3152insTTTTTAATGATA (p.Ser1051delinsPhePheAsnAspThr)
 gnomAD v3 gnomAD v4
1g.16986844A>CCA338233405ATP13A2c.3196T>G (p.Ser1066Ala)
c.3064T>G (p.Ser1022Ala)
c.3181T>G (p.Ser1061Ala)
n.1070T>G
c.784T>G (p.Ser262Ala)
c.3193T>G (p.Ser1065Ala)
c.3169T>G (p.Ser1057Ala)
c.3136T>G (p.Ser1046Ala)
c.3079T>G (p.Ser1027Ala)
c.3178T>G (p.Ser1060Ala)
c.3154T>G (p.Ser1052Ala)
c.2989T>G (p.Ser997Ala)
c.3151T>G (p.Ser1051Ala)
 dbSNP
1g.16986844A>GCA338233407ATP13A2c.3196T>C (p.Ser1066Pro)
c.3064T>C (p.Ser1022Pro)
c.3181T>C (p.Ser1061Pro)
n.1070T>C
c.784T>C (p.Ser262Pro)
c.3193T>C (p.Ser1065Pro)
c.3169T>C (p.Ser1057Pro)
c.3136T>C (p.Ser1046Pro)
c.3079T>C (p.Ser1027Pro)
c.3178T>C (p.Ser1060Pro)
c.3154T>C (p.Ser1052Pro)
c.2989T>C (p.Ser997Pro)
c.3151T>C (p.Ser1051Pro)
1g.16986844A>TCA338233408ATP13A2c.3196T>A (p.Ser1066Thr)
c.3064T>A (p.Ser1022Thr)
c.3181T>A (p.Ser1061Thr)
n.1070T>A
c.784T>A (p.Ser262Thr)
c.3193T>A (p.Ser1065Thr)
c.3169T>A (p.Ser1057Thr)
c.3136T>A (p.Ser1046Thr)
c.3079T>A (p.Ser1027Thr)
c.3178T>A (p.Ser1060Thr)
c.3154T>A (p.Ser1052Thr)
c.2989T>A (p.Ser997Thr)
c.3151T>A (p.Ser1051Thr)
1g.16986844_16986845insTCATTAAAAAACA999085423ATP13A2c.3196_3197insTTTTTAATGAT (p.Ser1066PhefsTer27)
c.3064_3065insTTTTTAATGAT (p.Ser1022PhefsTer?)
c.3181_3182insTTTTTAATGAT (p.Ser1061PhefsTer27)
n.1070_1071insTTTTTAATGAT
c.784_785insTTTTTAATGAT (p.Ser262PhefsTer?)
c.3196_3197insTTTTTAATGAT (p.Ser1066PhefsTer?)
c.3193_3194insTTTTTAATGAT (p.Ser1065PhefsTer?)
c.3181_3182insTTTTTAATGAT (p.Ser1061PhefsTer?)
c.3169_3170insTTTTTAATGAT (p.Ser1057PhefsTer?)
c.3136_3137insTTTTTAATGAT (p.Ser1046PhefsTer?)
c.3079_3080insTTTTTAATGAT (p.Ser1027PhefsTer?)
c.3178_3179insTTTTTAATGAT (p.Ser1060PhefsTer?)
c.3154_3155insTTTTTAATGAT (p.Ser1052PhefsTer?)
c.2989_2990insTTTTTAATGAT (p.Ser997PhefsTer?)
c.3178_3179insTTTTTAATGAT (p.Ser1060PhefsTer27)
c.3154_3155insTTTTTAATGAT (p.Ser1052PhefsTer27)
c.3151_3152insTTTTTAATGAT (p.Ser1051PhefsTer27)
c.3079_3080insTTTTTAATGAT (p.Ser1027PhefsTer27)
c.3064_3065insTTTTTAATGAT (p.Ser1022PhefsTer27)
c.2989_2990insTTTTTAATGAT (p.Ser997PhefsTer27)
 gnomAD v3 gnomAD v4
1g.16986845C>ACA416093584ATP13A2c.3195G>T (p.Val1065=)
c.3063G>T (p.Val1021=)
c.3180G>T (p.Val1060=)
n.1069G>T
c.783G>T (p.Val261=)
c.3192G>T (p.Val1064=)
c.3168G>T (p.Val1056=)
c.3135G>T (p.Val1045=)
c.3078G>T (p.Val1026=)
c.3177G>T (p.Val1059=)
c.3153G>T (p.Val1051=)
c.2988G>T (p.Val996=)
c.3150G>T (p.Val1050=)
1g.16986845C>GCA416093585ATP13A2c.3195G>C (p.Val1065=)
c.3063G>C (p.Val1021=)
c.3180G>C (p.Val1060=)
n.1069G>C
c.783G>C (p.Val261=)
c.3192G>C (p.Val1064=)
c.3168G>C (p.Val1056=)
c.3135G>C (p.Val1045=)
c.3078G>C (p.Val1026=)
c.3177G>C (p.Val1059=)
c.3153G>C (p.Val1051=)
c.2988G>C (p.Val996=)
c.3150G>C (p.Val1050=)
1g.16986845C>TCA416093586ATP13A2c.3195G>A (p.Val1065=)
c.3063G>A (p.Val1021=)
c.3180G>A (p.Val1060=)
n.1069G>A
c.783G>A (p.Val261=)
c.3192G>A (p.Val1064=)
c.3168G>A (p.Val1056=)
c.3135G>A (p.Val1045=)
c.3078G>A (p.Val1026=)
c.3177G>A (p.Val1059=)
c.3153G>A (p.Val1051=)
c.2988G>A (p.Val996=)
c.3150G>A (p.Val1050=)
 dbSNP gnomAD v3 gnomAD v4
1g.16986846A>CCA338233409ATP13A2c.3194T>G (p.Val1065Gly)
c.3062T>G (p.Val1021Gly)
c.3179T>G (p.Val1060Gly)
n.1068T>G
c.782T>G (p.Val261Gly)
c.3191T>G (p.Val1064Gly)
c.3167T>G (p.Val1056Gly)
c.3134T>G (p.Val1045Gly)
c.3077T>G (p.Val1026Gly)
c.3176T>G (p.Val1059Gly)
c.3152T>G (p.Val1051Gly)
c.2987T>G (p.Val996Gly)
c.3149T>G (p.Val1050Gly)
1g.16986846A>GCA338233410ATP13A2c.3194T>C (p.Val1065Ala)
c.3062T>C (p.Val1021Ala)
c.3179T>C (p.Val1060Ala)
n.1068T>C
c.782T>C (p.Val261Ala)
c.3191T>C (p.Val1064Ala)
c.3167T>C (p.Val1056Ala)
c.3134T>C (p.Val1045Ala)
c.3077T>C (p.Val1026Ala)
c.3176T>C (p.Val1059Ala)
c.3152T>C (p.Val1051Ala)
c.2987T>C (p.Val996Ala)
c.3149T>C (p.Val1050Ala)
1g.16986846A>TCA338233412ATP13A2c.3194T>A (p.Val1065Glu)
c.3062T>A (p.Val1021Glu)
c.3179T>A (p.Val1060Glu)
n.1068T>A
c.782T>A (p.Val261Glu)
c.3191T>A (p.Val1064Glu)
c.3167T>A (p.Val1056Glu)
c.3134T>A (p.Val1045Glu)
c.3077T>A (p.Val1026Glu)
c.3176T>A (p.Val1059Glu)
c.3152T>A (p.Val1051Glu)
c.2987T>A (p.Val996Glu)
c.3149T>A (p.Val1050Glu)
1g.16986847C>ACA18625653ATP13A2c.3193G>T (p.Val1065Leu)
c.3061G>T (p.Val1021Leu)
c.3178G>T (p.Val1060Leu)
n.1067G>T
c.781G>T (p.Val261Leu)
c.3190G>T (p.Val1064Leu)
c.3166G>T (p.Val1056Leu)
c.3133G>T (p.Val1045Leu)
c.3076G>T (p.Val1026Leu)
c.3175G>T (p.Val1059Leu)
c.3151G>T (p.Val1051Leu)
c.2986G>T (p.Val996Leu)
c.3148G>T (p.Val1050Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.16986847C=CA1144191785ATP13A2c.3193G= (p.Val1065=)
c.3061G= (p.Val1021=)
c.3178G= (p.Val1060=)
n.1067G=
c.781G= (p.Val261=)
c.3190G= (p.Val1064=)
c.3166G= (p.Val1056=)
c.3133G= (p.Val1045=)
c.3076G= (p.Val1026=)
c.3175G= (p.Val1059=)
c.3151G= (p.Val1051=)
c.2986G= (p.Val996=)
c.3148G= (p.Val1050=)
1g.16986847C>GCA338233416ATP13A2c.3193G>C (p.Val1065Leu)
c.3061G>C (p.Val1021Leu)
c.3178G>C (p.Val1060Leu)
n.1067G>C
c.781G>C (p.Val261Leu)
c.3190G>C (p.Val1064Leu)
c.3166G>C (p.Val1056Leu)
c.3133G>C (p.Val1045Leu)
c.3076G>C (p.Val1026Leu)
c.3175G>C (p.Val1059Leu)
c.3151G>C (p.Val1051Leu)
c.2986G>C (p.Val996Leu)
c.3148G>C (p.Val1050Leu)
1g.16986847C>TCA636581ATP13A2c.3193G>A (p.Val1065Met)
c.3061G>A (p.Val1021Met)
c.3178G>A (p.Val1060Met)
n.1067G>A
c.781G>A (p.Val261Met)
c.3190G>A (p.Val1064Met)
c.3166G>A (p.Val1056Met)
c.3133G>A (p.Val1045Met)
c.3076G>A (p.Val1026Met)
c.3175G>A (p.Val1059Met)
c.3151G>A (p.Val1051Met)
c.2986G>A (p.Val996Met)
c.3148G>A (p.Val1050Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986848G>ACA151959ATP13A2c.3192C>T (p.Ala1064=)
c.3060C>T (p.Ala1020=)
c.3177C>T (p.Ala1059=)
n.1066C>T
c.780C>T (p.Ala260=)
c.3189C>T (p.Ala1063=)
c.3165C>T (p.Ala1055=)
c.3132C>T (p.Ala1044=)
c.3075C>T (p.Ala1025=)
c.3174C>T (p.Ala1058=)
c.3150C>T (p.Ala1050=)
c.2985C>T (p.Ala995=)
c.3147C>T (p.Ala1049=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986848G>CCA416093591ATP13A2c.3192C>G (p.Ala1064=)
c.3060C>G (p.Ala1020=)
c.3177C>G (p.Ala1059=)
n.1066C>G
c.780C>G (p.Ala260=)
c.3189C>G (p.Ala1063=)
c.3165C>G (p.Ala1055=)
c.3132C>G (p.Ala1044=)
c.3075C>G (p.Ala1025=)
c.3174C>G (p.Ala1058=)
c.3150C>G (p.Ala1050=)
c.2985C>G (p.Ala995=)
c.3147C>G (p.Ala1049=)
 gnomAD v4
1g.16986848G=CA1140168678ATP13A2c.3192C= (p.Ala1064=)
c.3060C= (p.Ala1020=)
c.3177C= (p.Ala1059=)
n.1066C=
c.780C= (p.Ala260=)
c.3189C= (p.Ala1063=)
c.3165C= (p.Ala1055=)
c.3132C= (p.Ala1044=)
c.3075C= (p.Ala1025=)
c.3174C= (p.Ala1058=)
c.3150C= (p.Ala1050=)
c.2985C= (p.Ala995=)
c.3147C= (p.Ala1049=)
1g.16986848G>TCA416093590ATP13A2c.3192C>A (p.Ala1064=)
c.3060C>A (p.Ala1020=)
c.3177C>A (p.Ala1059=)
n.1066C>A
c.780C>A (p.Ala260=)
c.3189C>A (p.Ala1063=)
c.3165C>A (p.Ala1055=)
c.3132C>A (p.Ala1044=)
c.3075C>A (p.Ala1025=)
c.3174C>A (p.Ala1058=)
c.3150C>A (p.Ala1050=)
c.2985C>A (p.Ala995=)
c.3147C>A (p.Ala1049=)
1g.16986849G>ACA338233431ATP13A2c.3191C>T (p.Ala1064Val)
c.3059C>T (p.Ala1020Val)
c.3176C>T (p.Ala1059Val)
n.1065C>T
c.779C>T (p.Ala260Val)
c.3188C>T (p.Ala1063Val)
c.3164C>T (p.Ala1055Val)
c.3131C>T (p.Ala1044Val)
c.3074C>T (p.Ala1025Val)
c.3173C>T (p.Ala1058Val)
c.3149C>T (p.Ala1050Val)
c.2984C>T (p.Ala995Val)
c.3146C>T (p.Ala1049Val)
 dbSNP gnomAD v2
1g.16986849G>CCA338233432ATP13A2c.3191C>G (p.Ala1064Gly)
c.3059C>G (p.Ala1020Gly)
c.3176C>G (p.Ala1059Gly)
n.1065C>G
c.779C>G (p.Ala260Gly)
c.3188C>G (p.Ala1063Gly)
c.3164C>G (p.Ala1055Gly)
c.3131C>G (p.Ala1044Gly)
c.3074C>G (p.Ala1025Gly)
c.3173C>G (p.Ala1058Gly)
c.3149C>G (p.Ala1050Gly)
c.2984C>G (p.Ala995Gly)
c.3146C>G (p.Ala1049Gly)
1g.16986849G=CA1156050433ATP13A2c.3191C= (p.Ala1064=)
c.3059C= (p.Ala1020=)
c.3176C= (p.Ala1059=)
n.1065C=
c.779C= (p.Ala260=)
c.3188C= (p.Ala1063=)
c.3164C= (p.Ala1055=)
c.3131C= (p.Ala1044=)
c.3074C= (p.Ala1025=)
c.3173C= (p.Ala1058=)
c.3149C= (p.Ala1050=)
c.2984C= (p.Ala995=)
c.3146C= (p.Ala1049=)
1g.16986849G>TCA338233433ATP13A2c.3191C>A (p.Ala1064Asp)
c.3059C>A (p.Ala1020Asp)
c.3176C>A (p.Ala1059Asp)
n.1065C>A
c.779C>A (p.Ala260Asp)
c.3188C>A (p.Ala1063Asp)
c.3164C>A (p.Ala1055Asp)
c.3131C>A (p.Ala1044Asp)
c.3074C>A (p.Ala1025Asp)
c.3173C>A (p.Ala1058Asp)
c.3149C>A (p.Ala1050Asp)
c.2984C>A (p.Ala995Asp)
c.3146C>A (p.Ala1049Asp)
1g.16986850C>ACA338233437ATP13A2c.3190G>T (p.Ala1064Ser)
c.3058G>T (p.Ala1020Ser)
c.3175G>T (p.Ala1059Ser)
n.1064G>T
c.778G>T (p.Ala260Ser)
c.3187G>T (p.Ala1063Ser)
c.3163G>T (p.Ala1055Ser)
c.3130G>T (p.Ala1044Ser)
c.3073G>T (p.Ala1025Ser)
c.3172G>T (p.Ala1058Ser)
c.3148G>T (p.Ala1050Ser)
c.2983G>T (p.Ala995Ser)
c.3145G>T (p.Ala1049Ser)
1g.16986850C>GCA338233435ATP13A2c.3190G>C (p.Ala1064Pro)
c.3058G>C (p.Ala1020Pro)
c.3175G>C (p.Ala1059Pro)
n.1064G>C
c.778G>C (p.Ala260Pro)
c.3187G>C (p.Ala1063Pro)
c.3163G>C (p.Ala1055Pro)
c.3130G>C (p.Ala1044Pro)
c.3073G>C (p.Ala1025Pro)
c.3172G>C (p.Ala1058Pro)
c.3148G>C (p.Ala1050Pro)
c.2983G>C (p.Ala995Pro)
c.3145G>C (p.Ala1049Pro)
1g.16986850C>TCA338233436ATP13A2c.3190G>A (p.Ala1064Thr)
c.3058G>A (p.Ala1020Thr)
c.3175G>A (p.Ala1059Thr)
n.1064G>A
c.778G>A (p.Ala260Thr)
c.3187G>A (p.Ala1063Thr)
c.3163G>A (p.Ala1055Thr)
c.3130G>A (p.Ala1044Thr)
c.3073G>A (p.Ala1025Thr)
c.3172G>A (p.Ala1058Thr)
c.3148G>A (p.Ala1050Thr)
c.2983G>A (p.Ala995Thr)
c.3145G>A (p.Ala1049Thr)
 gnomAD v4
1g.16986851T>ACA416093593ATP13A2c.3189A>T (p.Ala1063=)
c.3057A>T (p.Ala1019=)
c.3174A>T (p.Ala1058=)
n.1063A>T
c.777A>T (p.Ala259=)
c.3186A>T (p.Ala1062=)
c.3162A>T (p.Ala1054=)
c.3129A>T (p.Ala1043=)
c.3072A>T (p.Ala1024=)
c.3171A>T (p.Ala1057=)
c.3147A>T (p.Ala1049=)
c.2982A>T (p.Ala994=)
c.3144A>T (p.Ala1048=)
1g.16986851T>CCA18625693ATP13A2c.3189A>G (p.Ala1063=)
c.3057A>G (p.Ala1019=)
c.3174A>G (p.Ala1058=)
n.1063A>G
c.777A>G (p.Ala259=)
c.3186A>G (p.Ala1062=)
c.3162A>G (p.Ala1054=)
c.3129A>G (p.Ala1043=)
c.3072A>G (p.Ala1024=)
c.3171A>G (p.Ala1057=)
c.3147A>G (p.Ala1049=)
c.2982A>G (p.Ala994=)
c.3144A>G (p.Ala1048=)
 dbSNP gnomAD v4
1g.16986851T>GCA416093594ATP13A2c.3189A>C (p.Ala1063=)
c.3057A>C (p.Ala1019=)
c.3174A>C (p.Ala1058=)
n.1063A>C
c.777A>C (p.Ala259=)
c.3186A>C (p.Ala1062=)
c.3162A>C (p.Ala1054=)
c.3129A>C (p.Ala1043=)
c.3072A>C (p.Ala1024=)
c.3171A>C (p.Ala1057=)
c.3147A>C (p.Ala1049=)
c.2982A>C (p.Ala994=)
c.3144A>C (p.Ala1048=)
1g.16986851T=CA1156050436ATP13A2c.3189A= (p.Ala1063=)
c.3057A= (p.Ala1019=)
c.3174A= (p.Ala1058=)
n.1063A=
c.777A= (p.Ala259=)
c.3186A= (p.Ala1062=)
c.3162A= (p.Ala1054=)
c.3129A= (p.Ala1043=)
c.3072A= (p.Ala1024=)
c.3171A= (p.Ala1057=)
c.3147A= (p.Ala1049=)
c.2982A= (p.Ala994=)
c.3144A= (p.Ala1048=)
1g.16986852G>ACA338233440ATP13A2c.3188C>T (p.Ala1063Val)
c.3056C>T (p.Ala1019Val)
c.3173C>T (p.Ala1058Val)
n.1062C>T
c.776C>T (p.Ala259Val)
c.3185C>T (p.Ala1062Val)
c.3161C>T (p.Ala1054Val)
c.3128C>T (p.Ala1043Val)
c.3071C>T (p.Ala1024Val)
c.3170C>T (p.Ala1057Val)
c.3146C>T (p.Ala1049Val)
c.2981C>T (p.Ala994Val)
c.3143C>T (p.Ala1048Val)
1g.16986852G>CCA338233441ATP13A2c.3188C>G (p.Ala1063Gly)
c.3056C>G (p.Ala1019Gly)
c.3173C>G (p.Ala1058Gly)
n.1062C>G
c.776C>G (p.Ala259Gly)
c.3185C>G (p.Ala1062Gly)
c.3161C>G (p.Ala1054Gly)
c.3128C>G (p.Ala1043Gly)
c.3071C>G (p.Ala1024Gly)
c.3170C>G (p.Ala1057Gly)
c.3146C>G (p.Ala1049Gly)
c.2981C>G (p.Ala994Gly)
c.3143C>G (p.Ala1048Gly)
1g.16986852G>TCA338233443ATP13A2c.3188C>A (p.Ala1063Glu)
c.3056C>A (p.Ala1019Glu)
c.3173C>A (p.Ala1058Glu)
n.1062C>A
c.776C>A (p.Ala259Glu)
c.3185C>A (p.Ala1062Glu)
c.3161C>A (p.Ala1054Glu)
c.3128C>A (p.Ala1043Glu)
c.3071C>A (p.Ala1024Glu)
c.3170C>A (p.Ala1057Glu)
c.3146C>A (p.Ala1049Glu)
c.2981C>A (p.Ala994Glu)
c.3143C>A (p.Ala1048Glu)
1g.16986853C>ACA338233445ATP13A2c.3187G>T (p.Ala1063Ser)
c.3055G>T (p.Ala1019Ser)
c.3172G>T (p.Ala1058Ser)
n.1061G>T
c.775G>T (p.Ala259Ser)
c.3184G>T (p.Ala1062Ser)
c.3160G>T (p.Ala1054Ser)
c.3127G>T (p.Ala1043Ser)
c.3070G>T (p.Ala1024Ser)
c.3169G>T (p.Ala1057Ser)
c.3145G>T (p.Ala1049Ser)
c.2980G>T (p.Ala994Ser)
c.3142G>T (p.Ala1048Ser)
1g.16986853C>GCA338233447ATP13A2c.3187G>C (p.Ala1063Pro)
c.3055G>C (p.Ala1019Pro)
c.3172G>C (p.Ala1058Pro)
n.1061G>C
c.775G>C (p.Ala259Pro)
c.3184G>C (p.Ala1062Pro)
c.3160G>C (p.Ala1054Pro)
c.3127G>C (p.Ala1043Pro)
c.3070G>C (p.Ala1024Pro)
c.3169G>C (p.Ala1057Pro)
c.3145G>C (p.Ala1049Pro)
c.2980G>C (p.Ala994Pro)
c.3142G>C (p.Ala1048Pro)
1g.16986853C>TCA338233448ATP13A2c.3187G>A (p.Ala1063Thr)
c.3055G>A (p.Ala1019Thr)
c.3172G>A (p.Ala1058Thr)
n.1061G>A
c.775G>A (p.Ala259Thr)
c.3184G>A (p.Ala1062Thr)
c.3160G>A (p.Ala1054Thr)
c.3127G>A (p.Ala1043Thr)
c.3070G>A (p.Ala1024Thr)
c.3169G>A (p.Ala1057Thr)
c.3145G>A (p.Ala1049Thr)
c.2980G>A (p.Ala994Thr)
c.3142G>A (p.Ala1048Thr)
1g.16986854A>CCA416093598ATP13A2c.3186T>G (p.Ala1062=)
c.3054T>G (p.Ala1018=)
c.3171T>G (p.Ala1057=)
n.1060T>G
c.774T>G (p.Ala258=)
c.3183T>G (p.Ala1061=)
c.3159T>G (p.Ala1053=)
c.3126T>G (p.Ala1042=)
c.3069T>G (p.Ala1023=)
c.3168T>G (p.Ala1056=)
c.3144T>G (p.Ala1048=)
c.2979T>G (p.Ala993=)
c.3141T>G (p.Ala1047=)
1g.16986854A>GCA416093599ATP13A2c.3186T>C (p.Ala1062=)
c.3054T>C (p.Ala1018=)
c.3171T>C (p.Ala1057=)
n.1060T>C
c.774T>C (p.Ala258=)
c.3183T>C (p.Ala1061=)
c.3159T>C (p.Ala1053=)
c.3126T>C (p.Ala1042=)
c.3069T>C (p.Ala1023=)
c.3168T>C (p.Ala1056=)
c.3144T>C (p.Ala1048=)
c.2979T>C (p.Ala993=)
c.3141T>C (p.Ala1047=)
 dbSNP
1g.16986854A>TCA416093600ATP13A2c.3186T>A (p.Ala1062=)
c.3054T>A (p.Ala1018=)
c.3171T>A (p.Ala1057=)
n.1060T>A
c.774T>A (p.Ala258=)
c.3183T>A (p.Ala1061=)
c.3159T>A (p.Ala1053=)
c.3126T>A (p.Ala1042=)
c.3069T>A (p.Ala1023=)
c.3168T>A (p.Ala1056=)
c.3144T>A (p.Ala1048=)
c.2979T>A (p.Ala993=)
c.3141T>A (p.Ala1047=)
1g.16986855G>ACA338233449ATP13A2c.3185C>T (p.Ala1062Val)
c.3053C>T (p.Ala1018Val)
c.3170C>T (p.Ala1057Val)
n.1059C>T
c.773C>T (p.Ala258Val)
c.3182C>T (p.Ala1061Val)
c.3158C>T (p.Ala1053Val)
c.3125C>T (p.Ala1042Val)
c.3068C>T (p.Ala1023Val)
c.3167C>T (p.Ala1056Val)
c.3143C>T (p.Ala1048Val)
c.2978C>T (p.Ala993Val)
c.3140C>T (p.Ala1047Val)
1g.16986855G>CCA338233450ATP13A2c.3185C>G (p.Ala1062Gly)
c.3053C>G (p.Ala1018Gly)
c.3170C>G (p.Ala1057Gly)
n.1059C>G
c.773C>G (p.Ala258Gly)
c.3182C>G (p.Ala1061Gly)
c.3158C>G (p.Ala1053Gly)
c.3125C>G (p.Ala1042Gly)
c.3068C>G (p.Ala1023Gly)
c.3167C>G (p.Ala1056Gly)
c.3143C>G (p.Ala1048Gly)
c.2978C>G (p.Ala993Gly)
c.3140C>G (p.Ala1047Gly)
 gnomAD v4
1g.16986855G>TCA338233451ATP13A2c.3185C>A (p.Ala1062Asp)
c.3053C>A (p.Ala1018Asp)
c.3170C>A (p.Ala1057Asp)
n.1059C>A
c.773C>A (p.Ala258Asp)
c.3182C>A (p.Ala1061Asp)
c.3158C>A (p.Ala1053Asp)
c.3125C>A (p.Ala1042Asp)
c.3068C>A (p.Ala1023Asp)
c.3167C>A (p.Ala1056Asp)
c.3143C>A (p.Ala1048Asp)
c.2978C>A (p.Ala993Asp)
c.3140C>A (p.Ala1047Asp)
1g.16986856_16986878delCA645512534ATP13A2c.3163_3185del (p.Ser1055CysfsTer?)
c.3031_3053del (p.Ser1011CysfsTer17)
c.3148_3170del (p.Ser1050CysfsTer?)
n.1037_1059del
c.751_773del (p.Ser251CysfsTer17)
c.3163_3185del (p.Ser1055CysfsTer17)
c.3160_3182del (p.Ser1054CysfsTer17)
c.3148_3170del (p.Ser1050CysfsTer17)
c.3136_3158del (p.Ser1046CysfsTer17)
c.3103_3125del (p.Ser1035CysfsTer17)
c.3046_3068del (p.Ser1016CysfsTer17)
c.3145_3167del (p.Ser1049CysfsTer17)
c.3121_3143del (p.Ser1041CysfsTer17)
c.2956_2978del (p.Ser986CysfsTer17)
c.3145_3167del (p.Ser1049CysfsTer?)
c.3121_3143del (p.Ser1041CysfsTer?)
c.3118_3140del (p.Ser1040CysfsTer?)
c.3046_3068del (p.Ser1016CysfsTer?)
c.3031_3053del (p.Ser1011CysfsTer?)
c.2956_2978del (p.Ser986CysfsTer?)
 COSMIC COSMIC
1g.16986856C>ACA338233454ATP13A2c.3184G>T (p.Ala1062Ser)
c.3052G>T (p.Ala1018Ser)
c.3169G>T (p.Ala1057Ser)
n.1058G>T
c.772G>T (p.Ala258Ser)
c.3181G>T (p.Ala1061Ser)
c.3157G>T (p.Ala1053Ser)
c.3124G>T (p.Ala1042Ser)
c.3067G>T (p.Ala1023Ser)
c.3166G>T (p.Ala1056Ser)
c.3142G>T (p.Ala1048Ser)
c.2977G>T (p.Ala993Ser)
c.3139G>T (p.Ala1047Ser)
 ClinVar
1g.16986856C>GCA338233455ATP13A2c.3184G>C (p.Ala1062Pro)
c.3052G>C (p.Ala1018Pro)
c.3169G>C (p.Ala1057Pro)
n.1058G>C
c.772G>C (p.Ala258Pro)
c.3181G>C (p.Ala1061Pro)
c.3157G>C (p.Ala1053Pro)
c.3124G>C (p.Ala1042Pro)
c.3067G>C (p.Ala1023Pro)
c.3166G>C (p.Ala1056Pro)
c.3142G>C (p.Ala1048Pro)
c.2977G>C (p.Ala993Pro)
c.3139G>C (p.Ala1047Pro)
1g.16986856C>TCA338233457ATP13A2c.3184G>A (p.Ala1062Thr)
c.3052G>A (p.Ala1018Thr)
c.3169G>A (p.Ala1057Thr)
n.1058G>A
c.772G>A (p.Ala258Thr)
c.3181G>A (p.Ala1061Thr)
c.3157G>A (p.Ala1053Thr)
c.3124G>A (p.Ala1042Thr)
c.3067G>A (p.Ala1023Thr)
c.3166G>A (p.Ala1056Thr)
c.3142G>A (p.Ala1048Thr)
c.2977G>A (p.Ala993Thr)
c.3139G>A (p.Ala1047Thr)
1g.16986857C>ACA416093601ATP13A2c.3183G>T (p.Leu1061=)
c.3051G>T (p.Leu1017=)
c.3168G>T (p.Leu1056=)
n.1057G>T
c.771G>T (p.Leu257=)
c.3180G>T (p.Leu1060=)
c.3156G>T (p.Leu1052=)
c.3123G>T (p.Leu1041=)
c.3066G>T (p.Leu1022=)
c.3165G>T (p.Leu1055=)
c.3141G>T (p.Leu1047=)
c.2976G>T (p.Leu992=)
c.3138G>T (p.Leu1046=)
1g.16986857C=CA1143776866ATP13A2c.3183G= (p.Leu1061=)
c.3051G= (p.Leu1017=)
c.3168G= (p.Leu1056=)
n.1057G=
c.771G= (p.Leu257=)
c.3180G= (p.Leu1060=)
c.3156G= (p.Leu1052=)
c.3123G= (p.Leu1041=)
c.3066G= (p.Leu1022=)
c.3165G= (p.Leu1055=)
c.3141G= (p.Leu1047=)
c.2976G= (p.Leu992=)
c.3138G= (p.Leu1046=)
1g.16986857C>GCA416093602ATP13A2c.3183G>C (p.Leu1061=)
c.3051G>C (p.Leu1017=)
c.3168G>C (p.Leu1056=)
n.1057G>C
c.771G>C (p.Leu257=)
c.3180G>C (p.Leu1060=)
c.3156G>C (p.Leu1052=)
c.3123G>C (p.Leu1041=)
c.3066G>C (p.Leu1022=)
c.3165G>C (p.Leu1055=)
c.3141G>C (p.Leu1047=)
c.2976G>C (p.Leu992=)
c.3138G>C (p.Leu1046=)
1g.16986857C>TCA636582ATP13A2c.3183G>A (p.Leu1061=)
c.3051G>A (p.Leu1017=)
c.3168G>A (p.Leu1056=)
n.1057G>A
c.771G>A (p.Leu257=)
c.3180G>A (p.Leu1060=)
c.3156G>A (p.Leu1052=)
c.3123G>A (p.Leu1041=)
c.3066G>A (p.Leu1022=)
c.3165G>A (p.Leu1055=)
c.3141G>A (p.Leu1047=)
c.2976G>A (p.Leu992=)
c.3138G>A (p.Leu1046=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986858A>CCA338233465ATP13A2c.3182T>G (p.Leu1061Arg)
c.3050T>G (p.Leu1017Arg)
c.3167T>G (p.Leu1056Arg)
n.1056T>G
c.770T>G (p.Leu257Arg)
c.3179T>G (p.Leu1060Arg)
c.3155T>G (p.Leu1052Arg)
c.3122T>G (p.Leu1041Arg)
c.3065T>G (p.Leu1022Arg)
c.3164T>G (p.Leu1055Arg)
c.3140T>G (p.Leu1047Arg)
c.2975T>G (p.Leu992Arg)
c.3137T>G (p.Leu1046Arg)
1g.16986858A>GCA338233460ATP13A2c.3182T>C (p.Leu1061Pro)
c.3050T>C (p.Leu1017Pro)
c.3167T>C (p.Leu1056Pro)
n.1056T>C
c.770T>C (p.Leu257Pro)
c.3179T>C (p.Leu1060Pro)
c.3155T>C (p.Leu1052Pro)
c.3122T>C (p.Leu1041Pro)
c.3065T>C (p.Leu1022Pro)
c.3164T>C (p.Leu1055Pro)
c.3140T>C (p.Leu1047Pro)
c.2975T>C (p.Leu992Pro)
c.3137T>C (p.Leu1046Pro)
1g.16986858A>TCA338233468ATP13A2c.3182T>A (p.Leu1061Gln)
c.3050T>A (p.Leu1017Gln)
c.3167T>A (p.Leu1056Gln)
n.1056T>A
c.770T>A (p.Leu257Gln)
c.3179T>A (p.Leu1060Gln)
c.3155T>A (p.Leu1052Gln)
c.3122T>A (p.Leu1041Gln)
c.3065T>A (p.Leu1022Gln)
c.3164T>A (p.Leu1055Gln)
c.3140T>A (p.Leu1047Gln)
c.2975T>A (p.Leu992Gln)
c.3137T>A (p.Leu1046Gln)
1g.16986859G>ACA416093604ATP13A2c.3181C>T (p.Leu1061=)
c.3049C>T (p.Leu1017=)
c.3166C>T (p.Leu1056=)
n.1055C>T
c.769C>T (p.Leu257=)
c.3178C>T (p.Leu1060=)
c.3154C>T (p.Leu1052=)
c.3121C>T (p.Leu1041=)
c.3064C>T (p.Leu1022=)
c.3163C>T (p.Leu1055=)
c.3139C>T (p.Leu1047=)
c.2974C>T (p.Leu992=)
c.3136C>T (p.Leu1046=)
1g.16986859G>CCA338233476ATP13A2c.3181C>G (p.Leu1061Val)
c.3049C>G (p.Leu1017Val)
c.3166C>G (p.Leu1056Val)
n.1055C>G
c.769C>G (p.Leu257Val)
c.3178C>G (p.Leu1060Val)
c.3154C>G (p.Leu1052Val)
c.3121C>G (p.Leu1041Val)
c.3064C>G (p.Leu1022Val)
c.3163C>G (p.Leu1055Val)
c.3139C>G (p.Leu1047Val)
c.2974C>G (p.Leu992Val)
c.3136C>G (p.Leu1046Val)
1g.16986859G>TCA338233487ATP13A2c.3181C>A (p.Leu1061Met)
c.3049C>A (p.Leu1017Met)
c.3166C>A (p.Leu1056Met)
n.1055C>A
c.769C>A (p.Leu257Met)
c.3178C>A (p.Leu1060Met)
c.3154C>A (p.Leu1052Met)
c.3121C>A (p.Leu1041Met)
c.3064C>A (p.Leu1022Met)
c.3163C>A (p.Leu1055Met)
c.3139C>A (p.Leu1047Met)
c.2974C>A (p.Leu992Met)
c.3136C>A (p.Leu1046Met)
1g.16986860G>ACA416093608ATP13A2c.3180C>T (p.Ile1060=)
c.3048C>T (p.Ile1016=)
c.3165C>T (p.Ile1055=)
n.1054C>T
c.768C>T (p.Ile256=)
c.3177C>T (p.Ile1059=)
c.3153C>T (p.Ile1051=)
c.3120C>T (p.Ile1040=)
c.3063C>T (p.Ile1021=)
c.3162C>T (p.Ile1054=)
c.3138C>T (p.Ile1046=)
c.2973C>T (p.Ile991=)
c.3135C>T (p.Ile1045=)
1g.16986860G>CCA338233489ATP13A2c.3180C>G (p.Ile1060Met)
c.3048C>G (p.Ile1016Met)
c.3165C>G (p.Ile1055Met)
n.1054C>G
c.768C>G (p.Ile256Met)
c.3177C>G (p.Ile1059Met)
c.3153C>G (p.Ile1051Met)
c.3120C>G (p.Ile1040Met)
c.3063C>G (p.Ile1021Met)
c.3162C>G (p.Ile1054Met)
c.3138C>G (p.Ile1046Met)
c.2973C>G (p.Ile991Met)
c.3135C>G (p.Ile1045Met)
1g.16986860G>TCA416093609ATP13A2c.3180C>A (p.Ile1060=)
c.3048C>A (p.Ile1016=)
c.3165C>A (p.Ile1055=)
n.1054C>A
c.768C>A (p.Ile256=)
c.3177C>A (p.Ile1059=)
c.3153C>A (p.Ile1051=)
c.3120C>A (p.Ile1040=)
c.3063C>A (p.Ile1021=)
c.3162C>A (p.Ile1054=)
c.3138C>A (p.Ile1046=)
c.2973C>A (p.Ile991=)
c.3135C>A (p.Ile1045=)
1g.16986861A>CCA338233496ATP13A2c.3179T>G (p.Ile1060Ser)
c.3047T>G (p.Ile1016Ser)
c.3164T>G (p.Ile1055Ser)
n.1053T>G
c.767T>G (p.Ile256Ser)
c.3176T>G (p.Ile1059Ser)
c.3152T>G (p.Ile1051Ser)
c.3119T>G (p.Ile1040Ser)
c.3062T>G (p.Ile1021Ser)
c.3161T>G (p.Ile1054Ser)
c.3137T>G (p.Ile1046Ser)
c.2972T>G (p.Ile991Ser)
c.3134T>G (p.Ile1045Ser)
1g.16986861A>GCA338233492ATP13A2c.3179T>C (p.Ile1060Thr)
c.3047T>C (p.Ile1016Thr)
c.3164T>C (p.Ile1055Thr)
n.1053T>C
c.767T>C (p.Ile256Thr)
c.3176T>C (p.Ile1059Thr)
c.3152T>C (p.Ile1051Thr)
c.3119T>C (p.Ile1040Thr)
c.3062T>C (p.Ile1021Thr)
c.3161T>C (p.Ile1054Thr)
c.3137T>C (p.Ile1046Thr)
c.2972T>C (p.Ile991Thr)
c.3134T>C (p.Ile1045Thr)
1g.16986861A>TCA338233502ATP13A2c.3179T>A (p.Ile1060Asn)
c.3047T>A (p.Ile1016Asn)
c.3164T>A (p.Ile1055Asn)
n.1053T>A
c.767T>A (p.Ile256Asn)
c.3176T>A (p.Ile1059Asn)
c.3152T>A (p.Ile1051Asn)
c.3119T>A (p.Ile1040Asn)
c.3062T>A (p.Ile1021Asn)
c.3161T>A (p.Ile1054Asn)
c.3137T>A (p.Ile1046Asn)
c.2972T>A (p.Ile991Asn)
c.3134T>A (p.Ile1045Asn)
1g.16986862T>ACA338233505ATP13A2c.3178A>T (p.Ile1060Phe)
c.3046A>T (p.Ile1016Phe)
c.3163A>T (p.Ile1055Phe)
n.1052A>T
c.766A>T (p.Ile256Phe)
c.3175A>T (p.Ile1059Phe)
c.3151A>T (p.Ile1051Phe)
c.3118A>T (p.Ile1040Phe)
c.3061A>T (p.Ile1021Phe)
c.3160A>T (p.Ile1054Phe)
c.3136A>T (p.Ile1046Phe)
c.2971A>T (p.Ile991Phe)
c.3133A>T (p.Ile1045Phe)
1g.16986862T>CCA338233506ATP13A2c.3178A>G (p.Ile1060Val)
c.3046A>G (p.Ile1016Val)
c.3163A>G (p.Ile1055Val)
n.1052A>G
c.766A>G (p.Ile256Val)
c.3175A>G (p.Ile1059Val)
c.3151A>G (p.Ile1051Val)
c.3118A>G (p.Ile1040Val)
c.3061A>G (p.Ile1021Val)
c.3160A>G (p.Ile1054Val)
c.3136A>G (p.Ile1046Val)
c.2971A>G (p.Ile991Val)
c.3133A>G (p.Ile1045Val)
1g.16986862T>GCA338233508ATP13A2c.3178A>C (p.Ile1060Leu)
c.3046A>C (p.Ile1016Leu)
c.3163A>C (p.Ile1055Leu)
n.1052A>C
c.766A>C (p.Ile256Leu)
c.3175A>C (p.Ile1059Leu)
c.3151A>C (p.Ile1051Leu)
c.3118A>C (p.Ile1040Leu)
c.3061A>C (p.Ile1021Leu)
c.3160A>C (p.Ile1054Leu)
c.3136A>C (p.Ile1046Leu)
c.2971A>C (p.Ile991Leu)
c.3133A>C (p.Ile1045Leu)
1g.16986863G>ACA636583ATP13A2c.3177C>T (p.Leu1059=)
c.3045C>T (p.Leu1015=)
c.3162C>T (p.Leu1054=)
n.1051C>T
c.765C>T (p.Leu255=)
c.3174C>T (p.Leu1058=)
c.3150C>T (p.Leu1050=)
c.3117C>T (p.Leu1039=)
c.3060C>T (p.Leu1020=)
c.3159C>T (p.Leu1053=)
c.3135C>T (p.Leu1045=)
c.2970C>T (p.Leu990=)
c.3132C>T (p.Leu1044=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986863G>CCA416093611ATP13A2c.3177C>G (p.Leu1059=)
c.3045C>G (p.Leu1015=)
c.3162C>G (p.Leu1054=)
n.1051C>G
c.765C>G (p.Leu255=)
c.3174C>G (p.Leu1058=)
c.3150C>G (p.Leu1050=)
c.3117C>G (p.Leu1039=)
c.3060C>G (p.Leu1020=)
c.3159C>G (p.Leu1053=)
c.3135C>G (p.Leu1045=)
c.2970C>G (p.Leu990=)
c.3132C>G (p.Leu1044=)
1g.16986863G=CA1156050444ATP13A2c.3177C= (p.Leu1059=)
c.3045C= (p.Leu1015=)
c.3162C= (p.Leu1054=)
n.1051C=
c.765C= (p.Leu255=)
c.3174C= (p.Leu1058=)
c.3150C= (p.Leu1050=)
c.3117C= (p.Leu1039=)
c.3060C= (p.Leu1020=)
c.3159C= (p.Leu1053=)
c.3135C= (p.Leu1045=)
c.2970C= (p.Leu990=)
c.3132C= (p.Leu1044=)
1g.16986863G>TCA416093610ATP13A2c.3177C>A (p.Leu1059=)
c.3045C>A (p.Leu1015=)
c.3162C>A (p.Leu1054=)
n.1051C>A
c.765C>A (p.Leu255=)
c.3174C>A (p.Leu1058=)
c.3150C>A (p.Leu1050=)
c.3117C>A (p.Leu1039=)
c.3060C>A (p.Leu1020=)
c.3159C>A (p.Leu1053=)
c.3135C>A (p.Leu1045=)
c.2970C>A (p.Leu990=)
c.3132C>A (p.Leu1044=)
1g.16986864A=CA1141580612ATP13A2c.3176T= (p.Leu1059=)
c.3044T= (p.Leu1015=)
c.3161T= (p.Leu1054=)
n.1050T=
c.764T= (p.Leu255=)
c.3173T= (p.Leu1058=)
c.3149T= (p.Leu1050=)
c.3116T= (p.Leu1039=)
c.3059T= (p.Leu1020=)
c.3158T= (p.Leu1053=)
c.3134T= (p.Leu1045=)
c.2969T= (p.Leu990=)
c.3131T= (p.Leu1044=)
1g.16986864A>CCA18625694ATP13A2c.3176T>G (p.Leu1059Arg)
c.3044T>G (p.Leu1015Arg)
c.3161T>G (p.Leu1054Arg)
n.1050T>G
c.764T>G (p.Leu255Arg)
c.3173T>G (p.Leu1058Arg)
c.3149T>G (p.Leu1050Arg)
c.3116T>G (p.Leu1039Arg)
c.3059T>G (p.Leu1020Arg)
c.3158T>G (p.Leu1053Arg)
c.3134T>G (p.Leu1045Arg)
c.2969T>G (p.Leu990Arg)
c.3131T>G (p.Leu1044Arg)
 ClinVar dbSNP
1g.16986864A>GCA338233510ATP13A2c.3176T>C (p.Leu1059Pro)
c.3044T>C (p.Leu1015Pro)
c.3161T>C (p.Leu1054Pro)
n.1050T>C
c.764T>C (p.Leu255Pro)
c.3173T>C (p.Leu1058Pro)
c.3149T>C (p.Leu1050Pro)
c.3116T>C (p.Leu1039Pro)
c.3059T>C (p.Leu1020Pro)
c.3158T>C (p.Leu1053Pro)
c.3134T>C (p.Leu1045Pro)
c.2969T>C (p.Leu990Pro)
c.3131T>C (p.Leu1044Pro)
1g.16986864A>TCA338233511ATP13A2c.3176T>A (p.Leu1059His)
c.3044T>A (p.Leu1015His)
c.3161T>A (p.Leu1054His)
n.1050T>A
c.764T>A (p.Leu255His)
c.3173T>A (p.Leu1058His)
c.3149T>A (p.Leu1050His)
c.3116T>A (p.Leu1039His)
c.3059T>A (p.Leu1020His)
c.3158T>A (p.Leu1053His)
c.3134T>A (p.Leu1045His)
c.2969T>A (p.Leu990His)
c.3131T>A (p.Leu1044His)
1g.16986865G>ACA636584ATP13A2c.3175C>T (p.Leu1059Phe)
c.3043C>T (p.Leu1015Phe)
c.3160C>T (p.Leu1054Phe)
n.1049C>T
c.763C>T (p.Leu255Phe)
c.3172C>T (p.Leu1058Phe)
c.3148C>T (p.Leu1050Phe)
c.3115C>T (p.Leu1039Phe)
c.3058C>T (p.Leu1020Phe)
c.3157C>T (p.Leu1053Phe)
c.3133C>T (p.Leu1045Phe)
c.2968C>T (p.Leu990Phe)
c.3130C>T (p.Leu1044Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986865G>CCA338233513ATP13A2c.3175C>G (p.Leu1059Val)
c.3043C>G (p.Leu1015Val)
c.3160C>G (p.Leu1054Val)
n.1049C>G
c.763C>G (p.Leu255Val)
c.3172C>G (p.Leu1058Val)
c.3148C>G (p.Leu1050Val)
c.3115C>G (p.Leu1039Val)
c.3058C>G (p.Leu1020Val)
c.3157C>G (p.Leu1053Val)
c.3133C>G (p.Leu1045Val)
c.2968C>G (p.Leu990Val)
c.3130C>G (p.Leu1044Val)
1g.16986865G=CA1156050453ATP13A2c.3175C= (p.Leu1059=)
c.3043C= (p.Leu1015=)
c.3160C= (p.Leu1054=)
n.1049C=
c.763C= (p.Leu255=)
c.3172C= (p.Leu1058=)
c.3148C= (p.Leu1050=)
c.3115C= (p.Leu1039=)
c.3058C= (p.Leu1020=)
c.3157C= (p.Leu1053=)
c.3133C= (p.Leu1045=)
c.2968C= (p.Leu990=)
c.3130C= (p.Leu1044=)
1g.16986865G>TCA338233515ATP13A2c.3175C>A (p.Leu1059Ile)
c.3043C>A (p.Leu1015Ile)
c.3160C>A (p.Leu1054Ile)
n.1049C>A
c.763C>A (p.Leu255Ile)
c.3172C>A (p.Leu1058Ile)
c.3148C>A (p.Leu1050Ile)
c.3115C>A (p.Leu1039Ile)
c.3058C>A (p.Leu1020Ile)
c.3157C>A (p.Leu1053Ile)
c.3133C>A (p.Leu1045Ile)
c.2968C>A (p.Leu990Ile)
c.3130C>A (p.Leu1044Ile)
1g.16986866G>ACA636585ATP13A2c.3174C>T (p.Tyr1058=)
c.3042C>T (p.Tyr1014=)
c.3159C>T (p.Tyr1053=)
n.1048C>T
c.762C>T (p.Tyr254=)
c.3171C>T (p.Tyr1057=)
c.3147C>T (p.Tyr1049=)
c.3114C>T (p.Tyr1038=)
c.3057C>T (p.Tyr1019=)
c.3156C>T (p.Tyr1052=)
c.3132C>T (p.Tyr1044=)
c.2967C>T (p.Tyr989=)
c.3129C>T (p.Tyr1043=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986866G>CCA338233518ATP13A2c.3174C>G (p.Tyr1058Ter)
c.3042C>G (p.Tyr1014Ter)
c.3159C>G (p.Tyr1053Ter)
n.1048C>G
c.762C>G (p.Tyr254Ter)
c.3171C>G (p.Tyr1057Ter)
c.3147C>G (p.Tyr1049Ter)
c.3114C>G (p.Tyr1038Ter)
c.3057C>G (p.Tyr1019Ter)
c.3156C>G (p.Tyr1052Ter)
c.3132C>G (p.Tyr1044Ter)
c.2967C>G (p.Tyr989Ter)
c.3129C>G (p.Tyr1043Ter)
1g.16986866G=CA1156050458ATP13A2c.3174C= (p.Tyr1058=)
c.3042C= (p.Tyr1014=)
c.3159C= (p.Tyr1053=)
n.1048C=
c.762C= (p.Tyr254=)
c.3171C= (p.Tyr1057=)
c.3147C= (p.Tyr1049=)
c.3114C= (p.Tyr1038=)
c.3057C= (p.Tyr1019=)
c.3156C= (p.Tyr1052=)
c.3132C= (p.Tyr1044=)
c.2967C= (p.Tyr989=)
c.3129C= (p.Tyr1043=)
1g.16986866G>TCA338233517ATP13A2c.3174C>A (p.Tyr1058Ter)
c.3042C>A (p.Tyr1014Ter)
c.3159C>A (p.Tyr1053Ter)
n.1048C>A
c.762C>A (p.Tyr254Ter)
c.3171C>A (p.Tyr1057Ter)
c.3147C>A (p.Tyr1049Ter)
c.3114C>A (p.Tyr1038Ter)
c.3057C>A (p.Tyr1019Ter)
c.3156C>A (p.Tyr1052Ter)
c.3132C>A (p.Tyr1044Ter)
c.2967C>A (p.Tyr989Ter)
c.3129C>A (p.Tyr1043Ter)
1g.16986867T>ACA338233519ATP13A2c.3173A>T (p.Tyr1058Phe)
c.3041A>T (p.Tyr1014Phe)
c.3158A>T (p.Tyr1053Phe)
n.1047A>T
c.761A>T (p.Tyr254Phe)
c.3170A>T (p.Tyr1057Phe)
c.3146A>T (p.Tyr1049Phe)
c.3113A>T (p.Tyr1038Phe)
c.3056A>T (p.Tyr1019Phe)
c.3155A>T (p.Tyr1052Phe)
c.3131A>T (p.Tyr1044Phe)
c.2966A>T (p.Tyr989Phe)
c.3128A>T (p.Tyr1043Phe)
 dbSNP
1g.16986867T>CCA338233520ATP13A2c.3173A>G (p.Tyr1058Cys)
c.3041A>G (p.Tyr1014Cys)
c.3158A>G (p.Tyr1053Cys)
n.1047A>G
c.761A>G (p.Tyr254Cys)
c.3170A>G (p.Tyr1057Cys)
c.3146A>G (p.Tyr1049Cys)
c.3113A>G (p.Tyr1038Cys)
c.3056A>G (p.Tyr1019Cys)
c.3155A>G (p.Tyr1052Cys)
c.3131A>G (p.Tyr1044Cys)
c.2966A>G (p.Tyr989Cys)
c.3128A>G (p.Tyr1043Cys)
1g.16986867T>GCA338233522ATP13A2c.3173A>C (p.Tyr1058Ser)
c.3041A>C (p.Tyr1014Ser)
c.3158A>C (p.Tyr1053Ser)
n.1047A>C
c.761A>C (p.Tyr254Ser)
c.3170A>C (p.Tyr1057Ser)
c.3146A>C (p.Tyr1049Ser)
c.3113A>C (p.Tyr1038Ser)
c.3056A>C (p.Tyr1019Ser)
c.3155A>C (p.Tyr1052Ser)
c.3131A>C (p.Tyr1044Ser)
c.2966A>C (p.Tyr989Ser)
c.3128A>C (p.Tyr1043Ser)
1g.16986867T=CA1156050462ATP13A2c.3173A= (p.Tyr1058=)
c.3041A= (p.Tyr1014=)
c.3158A= (p.Tyr1053=)
n.1047A=
c.761A= (p.Tyr254=)
c.3170A= (p.Tyr1057=)
c.3146A= (p.Tyr1049=)
c.3113A= (p.Tyr1038=)
c.3056A= (p.Tyr1019=)
c.3155A= (p.Tyr1052=)
c.3131A= (p.Tyr1044=)
c.2966A= (p.Tyr989=)
c.3128A= (p.Tyr1043=)
1g.16986868A>CCA338233525ATP13A2c.3172T>G (p.Tyr1058Asp)
c.3040T>G (p.Tyr1014Asp)
c.3157T>G (p.Tyr1053Asp)
n.1046T>G
c.760T>G (p.Tyr254Asp)
c.3169T>G (p.Tyr1057Asp)
c.3145T>G (p.Tyr1049Asp)
c.3112T>G (p.Tyr1038Asp)
c.3055T>G (p.Tyr1019Asp)
c.3154T>G (p.Tyr1052Asp)
c.3130T>G (p.Tyr1044Asp)
c.2965T>G (p.Tyr989Asp)
c.3127T>G (p.Tyr1043Asp)
1g.16986868A>GCA338233526ATP13A2c.3172T>C (p.Tyr1058His)
c.3040T>C (p.Tyr1014His)
c.3157T>C (p.Tyr1053His)
n.1046T>C
c.760T>C (p.Tyr254His)
c.3169T>C (p.Tyr1057His)
c.3145T>C (p.Tyr1049His)
c.3112T>C (p.Tyr1038His)
c.3055T>C (p.Tyr1019His)
c.3154T>C (p.Tyr1052His)
c.3130T>C (p.Tyr1044His)
c.2965T>C (p.Tyr989His)
c.3127T>C (p.Tyr1043His)
1g.16986868A>TCA338233527ATP13A2c.3172T>A (p.Tyr1058Asn)
c.3040T>A (p.Tyr1014Asn)
c.3157T>A (p.Tyr1053Asn)
n.1046T>A
c.760T>A (p.Tyr254Asn)
c.3169T>A (p.Tyr1057Asn)
c.3145T>A (p.Tyr1049Asn)
c.3112T>A (p.Tyr1038Asn)
c.3055T>A (p.Tyr1019Asn)
c.3154T>A (p.Tyr1052Asn)
c.3130T>A (p.Tyr1044Asn)
c.2965T>A (p.Tyr989Asn)
c.3127T>A (p.Tyr1043Asn)
1g.16986869C>ACA338233528ATP13A2c.3171G>T (p.Gln1057His)
c.3039G>T (p.Gln1013His)
c.3156G>T (p.Gln1052His)
n.1045G>T
c.759G>T (p.Gln253His)
c.3168G>T (p.Gln1056His)
c.3144G>T (p.Gln1048His)
c.3111G>T (p.Gln1037His)
c.3054G>T (p.Gln1018His)
c.3153G>T (p.Gln1051His)
c.3129G>T (p.Gln1043His)
c.2964G>T (p.Gln988His)
c.3126G>T (p.Gln1042His)
1g.16986869C=CA1156050465ATP13A2c.3171G= (p.Gln1057=)
c.3039G= (p.Gln1013=)
c.3156G= (p.Gln1052=)
n.1045G=
c.759G= (p.Gln253=)
c.3168G= (p.Gln1056=)
c.3144G= (p.Gln1048=)
c.3111G= (p.Gln1037=)
c.3054G= (p.Gln1018=)
c.3153G= (p.Gln1051=)
c.3129G= (p.Gln1043=)
c.2964G= (p.Gln988=)
c.3126G= (p.Gln1042=)
1g.16986869C>GCA338233529ATP13A2c.3171G>C (p.Gln1057His)
c.3039G>C (p.Gln1013His)
c.3156G>C (p.Gln1052His)
n.1045G>C
c.759G>C (p.Gln253His)
c.3168G>C (p.Gln1056His)
c.3144G>C (p.Gln1048His)
c.3111G>C (p.Gln1037His)
c.3054G>C (p.Gln1018His)
c.3153G>C (p.Gln1051His)
c.3129G>C (p.Gln1043His)
c.2964G>C (p.Gln988His)
c.3126G>C (p.Gln1042His)
1g.16986869C>TCA636586ATP13A2c.3171G>A (p.Gln1057=)
c.3039G>A (p.Gln1013=)
c.3156G>A (p.Gln1052=)
n.1045G>A
c.759G>A (p.Gln253=)
c.3168G>A (p.Gln1056=)
c.3144G>A (p.Gln1048=)
c.3111G>A (p.Gln1037=)
c.3054G>A (p.Gln1018=)
c.3153G>A (p.Gln1051=)
c.3129G>A (p.Gln1043=)
c.2964G>A (p.Gln988=)
c.3126G>A (p.Gln1042=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16986870T>ACA338233530ATP13A2c.3170A>T (p.Gln1057Leu)
c.3038A>T (p.Gln1013Leu)
c.3155A>T (p.Gln1052Leu)
n.1044A>T
c.758A>T (p.Gln253Leu)
c.3167A>T (p.Gln1056Leu)
c.3143A>T (p.Gln1048Leu)
c.3110A>T (p.Gln1037Leu)
c.3053A>T (p.Gln1018Leu)
c.3152A>T (p.Gln1051Leu)
c.3128A>T (p.Gln1043Leu)
c.2963A>T (p.Gln988Leu)
c.3125A>T (p.Gln1042Leu)
1g.16986870T>CCA338233531ATP13A2c.3170A>G (p.Gln1057Arg)
c.3038A>G (p.Gln1013Arg)
c.3155A>G (p.Gln1052Arg)
n.1044A>G
c.758A>G (p.Gln253Arg)
c.3167A>G (p.Gln1056Arg)
c.3143A>G (p.Gln1048Arg)
c.3110A>G (p.Gln1037Arg)
c.3053A>G (p.Gln1018Arg)
c.3152A>G (p.Gln1051Arg)
c.3128A>G (p.Gln1043Arg)
c.2963A>G (p.Gln988Arg)
c.3125A>G (p.Gln1042Arg)
1g.16986870T>GCA338233533ATP13A2c.3170A>C (p.Gln1057Pro)
c.3038A>C (p.Gln1013Pro)
c.3155A>C (p.Gln1052Pro)
n.1044A>C
c.758A>C (p.Gln253Pro)
c.3167A>C (p.Gln1056Pro)
c.3143A>C (p.Gln1048Pro)
c.3110A>C (p.Gln1037Pro)
c.3053A>C (p.Gln1018Pro)
c.3152A>C (p.Gln1051Pro)
c.3128A>C (p.Gln1043Pro)
c.2963A>C (p.Gln988Pro)
c.3125A>C (p.Gln1042Pro)
1g.16986871G>ACA338233535ATP13A2c.3169C>T (p.Gln1057Ter)
c.3037C>T (p.Gln1013Ter)
c.3154C>T (p.Gln1052Ter)
n.1043C>T
c.757C>T (p.Gln253Ter)
c.3166C>T (p.Gln1056Ter)
c.3142C>T (p.Gln1048Ter)
c.3109C>T (p.Gln1037Ter)
c.3052C>T (p.Gln1018Ter)
c.3151C>T (p.Gln1051Ter)
c.3127C>T (p.Gln1043Ter)
c.2962C>T (p.Gln988Ter)
c.3124C>T (p.Gln1042Ter)
1g.16986871G>CCA338233539ATP13A2c.3169C>G (p.Gln1057Glu)
c.3037C>G (p.Gln1013Glu)
c.3154C>G (p.Gln1052Glu)
n.1043C>G
c.757C>G (p.Gln253Glu)
c.3166C>G (p.Gln1056Glu)
c.3142C>G (p.Gln1048Glu)
c.3109C>G (p.Gln1037Glu)
c.3052C>G (p.Gln1018Glu)
c.3151C>G (p.Gln1051Glu)
c.3127C>G (p.Gln1043Glu)
c.2962C>G (p.Gln988Glu)
c.3124C>G (p.Gln1042Glu)
1g.16986871G>TCA338233534ATP13A2c.3169C>A (p.Gln1057Lys)
c.3037C>A (p.Gln1013Lys)
c.3154C>A (p.Gln1052Lys)
n.1043C>A
c.757C>A (p.Gln253Lys)
c.3166C>A (p.Gln1056Lys)
c.3142C>A (p.Gln1048Lys)
c.3109C>A (p.Gln1037Lys)
c.3052C>A (p.Gln1018Lys)
c.3151C>A (p.Gln1051Lys)
c.3127C>A (p.Gln1043Lys)
c.2962C>A (p.Gln988Lys)
c.3124C>A (p.Gln1042Lys)
1g.16986872G>ACA416093620ATP13A2c.3168C>T (p.Phe1056=)
c.3036C>T (p.Phe1012=)
c.3153C>T (p.Phe1051=)
n.1042C>T
c.756C>T (p.Phe252=)
c.3165C>T (p.Phe1055=)
c.3141C>T (p.Phe1047=)
c.3108C>T (p.Phe1036=)
c.3051C>T (p.Phe1017=)
c.3150C>T (p.Phe1050=)
c.3126C>T (p.Phe1042=)
c.2961C>T (p.Phe987=)
c.3123C>T (p.Phe1041=)
 COSMIC COSMIC
1g.16986872G>CCA338233540ATP13A2c.3168C>G (p.Phe1056Leu)
c.3036C>G (p.Phe1012Leu)
c.3153C>G (p.Phe1051Leu)
n.1042C>G
c.756C>G (p.Phe252Leu)
c.3165C>G (p.Phe1055Leu)
c.3141C>G (p.Phe1047Leu)
c.3108C>G (p.Phe1036Leu)
c.3051C>G (p.Phe1017Leu)
c.3150C>G (p.Phe1050Leu)
c.3126C>G (p.Phe1042Leu)
c.2961C>G (p.Phe987Leu)
c.3123C>G (p.Phe1041Leu)
1g.16986872G>TCA338233542ATP13A2c.3168C>A (p.Phe1056Leu)
c.3036C>A (p.Phe1012Leu)
c.3153C>A (p.Phe1051Leu)
n.1042C>A
c.756C>A (p.Phe252Leu)
c.3165C>A (p.Phe1055Leu)
c.3141C>A (p.Phe1047Leu)
c.3108C>A (p.Phe1036Leu)
c.3051C>A (p.Phe1017Leu)
c.3150C>A (p.Phe1050Leu)
c.3126C>A (p.Phe1042Leu)
c.2961C>A (p.Phe987Leu)
c.3123C>A (p.Phe1041Leu)
1g.16986873A>CCA338233544ATP13A2c.3167T>G (p.Phe1056Cys)
c.3035T>G (p.Phe1012Cys)
c.3152T>G (p.Phe1051Cys)
n.1041T>G
c.755T>G (p.Phe252Cys)
c.3164T>G (p.Phe1055Cys)
c.3140T>G (p.Phe1047Cys)
c.3107T>G (p.Phe1036Cys)
c.3050T>G (p.Phe1017Cys)
c.3149T>G (p.Phe1050Cys)
c.3125T>G (p.Phe1042Cys)
c.2960T>G (p.Phe987Cys)
c.3122T>G (p.Phe1041Cys)
1g.16986873A>GCA338233546ATP13A2c.3167T>C (p.Phe1056Ser)
c.3035T>C (p.Phe1012Ser)
c.3152T>C (p.Phe1051Ser)
n.1041T>C
c.755T>C (p.Phe252Ser)
c.3164T>C (p.Phe1055Ser)
c.3140T>C (p.Phe1047Ser)
c.3107T>C (p.Phe1036Ser)
c.3050T>C (p.Phe1017Ser)
c.3149T>C (p.Phe1050Ser)
c.3125T>C (p.Phe1042Ser)
c.2960T>C (p.Phe987Ser)
c.3122T>C (p.Phe1041Ser)
1g.16986873A>TCA338233553ATP13A2c.3167T>A (p.Phe1056Tyr)
c.3035T>A (p.Phe1012Tyr)
c.3152T>A (p.Phe1051Tyr)
n.1041T>A
c.755T>A (p.Phe252Tyr)
c.3164T>A (p.Phe1055Tyr)
c.3140T>A (p.Phe1047Tyr)
c.3107T>A (p.Phe1036Tyr)
c.3050T>A (p.Phe1017Tyr)
c.3149T>A (p.Phe1050Tyr)
c.3125T>A (p.Phe1042Tyr)
c.2960T>A (p.Phe987Tyr)
c.3122T>A (p.Phe1041Tyr)
1g.16986874A>CCA338233555ATP13A2c.3166T>G (p.Phe1056Val)
c.3034T>G (p.Phe1012Val)
c.3151T>G (p.Phe1051Val)
n.1040T>G
c.754T>G (p.Phe252Val)
c.3163T>G (p.Phe1055Val)
c.3139T>G (p.Phe1047Val)
c.3106T>G (p.Phe1036Val)
c.3049T>G (p.Phe1017Val)
c.3148T>G (p.Phe1050Val)
c.3124T>G (p.Phe1042Val)
c.2959T>G (p.Phe987Val)
c.3121T>G (p.Phe1041Val)
1g.16986874A>GCA338233556ATP13A2c.3166T>C (p.Phe1056Leu)
c.3034T>C (p.Phe1012Leu)
c.3151T>C (p.Phe1051Leu)
n.1040T>C
c.754T>C (p.Phe252Leu)
c.3163T>C (p.Phe1055Leu)
c.3139T>C (p.Phe1047Leu)
c.3106T>C (p.Phe1036Leu)
c.3049T>C (p.Phe1017Leu)
c.3148T>C (p.Phe1050Leu)
c.3124T>C (p.Phe1042Leu)
c.2959T>C (p.Phe987Leu)
c.3121T>C (p.Phe1041Leu)
1g.16986874A>TCA338233560ATP13A2c.3166T>A (p.Phe1056Ile)
c.3034T>A (p.Phe1012Ile)
c.3151T>A (p.Phe1051Ile)
n.1040T>A
c.754T>A (p.Phe252Ile)
c.3163T>A (p.Phe1055Ile)
c.3139T>A (p.Phe1047Ile)
c.3106T>A (p.Phe1036Ile)
c.3049T>A (p.Phe1017Ile)
c.3148T>A (p.Phe1050Ile)
c.3124T>A (p.Phe1042Ile)
c.2959T>A (p.Phe987Ile)
c.3121T>A (p.Phe1041Ile)
1g.16986875G>ACA416093621ATP13A2c.3165C>T (p.Ser1055=)
c.3033C>T (p.Ser1011=)
c.3150C>T (p.Ser1050=)
n.1039C>T
c.753C>T (p.Ser251=)
c.3162C>T (p.Ser1054=)
c.3138C>T (p.Ser1046=)
c.3105C>T (p.Ser1035=)
c.3048C>T (p.Ser1016=)
c.3147C>T (p.Ser1049=)
c.3123C>T (p.Ser1041=)
c.2958C>T (p.Ser986=)
c.3120C>T (p.Ser1040=)
1g.16986875G>CCA338233562ATP13A2c.3165C>G (p.Ser1055Arg)
c.3033C>G (p.Ser1011Arg)
c.3150C>G (p.Ser1050Arg)
n.1039C>G
c.753C>G (p.Ser251Arg)
c.3162C>G (p.Ser1054Arg)
c.3138C>G (p.Ser1046Arg)
c.3105C>G (p.Ser1035Arg)
c.3048C>G (p.Ser1016Arg)
c.3147C>G (p.Ser1049Arg)
c.3123C>G (p.Ser1041Arg)
c.2958C>G (p.Ser986Arg)
c.3120C>G (p.Ser1040Arg)
1g.16986875G>TCA338233564ATP13A2c.3165C>A (p.Ser1055Arg)
c.3033C>A (p.Ser1011Arg)
c.3150C>A (p.Ser1050Arg)
n.1039C>A
c.753C>A (p.Ser251Arg)
c.3162C>A (p.Ser1054Arg)
c.3138C>A (p.Ser1046Arg)
c.3105C>A (p.Ser1035Arg)
c.3048C>A (p.Ser1016Arg)
c.3147C>A (p.Ser1049Arg)
c.3123C>A (p.Ser1041Arg)
c.2958C>A (p.Ser986Arg)
c.3120C>A (p.Ser1040Arg)
1g.16986876C>ACA338233565ATP13A2c.3164G>T (p.Ser1055Ile)
c.3032G>T (p.Ser1011Ile)
c.3149G>T (p.Ser1050Ile)
n.1038G>T
c.752G>T (p.Ser251Ile)
c.3161G>T (p.Ser1054Ile)
c.3137G>T (p.Ser1046Ile)
c.3104G>T (p.Ser1035Ile)
c.3047G>T (p.Ser1016Ile)
c.3146G>T (p.Ser1049Ile)
c.3122G>T (p.Ser1041Ile)
c.2957G>T (p.Ser986Ile)
c.3119G>T (p.Ser1040Ile)
1g.16986876C=CA1156050468ATP13A2c.3164G= (p.Ser1055=)
c.3032G= (p.Ser1011=)
c.3149G= (p.Ser1050=)
n.1038G=
c.752G= (p.Ser251=)
c.3161G= (p.Ser1054=)
c.3137G= (p.Ser1046=)
c.3104G= (p.Ser1035=)
c.3047G= (p.Ser1016=)
c.3146G= (p.Ser1049=)
c.3122G= (p.Ser1041=)
c.2957G= (p.Ser986=)
c.3119G= (p.Ser1040=)
1g.16986876C>GCA18625726ATP13A2c.3164G>C (p.Ser1055Thr)
c.3032G>C (p.Ser1011Thr)
c.3149G>C (p.Ser1050Thr)
n.1038G>C
c.752G>C (p.Ser251Thr)
c.3161G>C (p.Ser1054Thr)
c.3137G>C (p.Ser1046Thr)
c.3104G>C (p.Ser1035Thr)
c.3047G>C (p.Ser1016Thr)
c.3146G>C (p.Ser1049Thr)
c.3122G>C (p.Ser1041Thr)
c.2957G>C (p.Ser986Thr)
c.3119G>C (p.Ser1040Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986876C>TCA338233569ATP13A2c.3164G>A (p.Ser1055Asn)
c.3032G>A (p.Ser1011Asn)
c.3149G>A (p.Ser1050Asn)
n.1038G>A
c.752G>A (p.Ser251Asn)
c.3161G>A (p.Ser1054Asn)
c.3137G>A (p.Ser1046Asn)
c.3104G>A (p.Ser1035Asn)
c.3047G>A (p.Ser1016Asn)
c.3146G>A (p.Ser1049Asn)
c.3122G>A (p.Ser1041Asn)
c.2957G>A (p.Ser986Asn)
c.3119G>A (p.Ser1040Asn)
1g.16986877T>ACA338233572ATP13A2c.3163A>T (p.Ser1055Cys)
c.3031A>T (p.Ser1011Cys)
c.3148A>T (p.Ser1050Cys)
n.1037A>T
c.751A>T (p.Ser251Cys)
c.3160A>T (p.Ser1054Cys)
c.3136A>T (p.Ser1046Cys)
c.3103A>T (p.Ser1035Cys)
c.3046A>T (p.Ser1016Cys)
c.3145A>T (p.Ser1049Cys)
c.3121A>T (p.Ser1041Cys)
c.2956A>T (p.Ser986Cys)
c.3118A>T (p.Ser1040Cys)
1g.16986877T>CCA338233571ATP13A2c.3163A>G (p.Ser1055Gly)
c.3031A>G (p.Ser1011Gly)
c.3148A>G (p.Ser1050Gly)
n.1037A>G
c.751A>G (p.Ser251Gly)
c.3160A>G (p.Ser1054Gly)
c.3136A>G (p.Ser1046Gly)
c.3103A>G (p.Ser1035Gly)
c.3046A>G (p.Ser1016Gly)
c.3145A>G (p.Ser1049Gly)
c.3121A>G (p.Ser1041Gly)
c.2956A>G (p.Ser986Gly)
c.3118A>G (p.Ser1040Gly)
1g.16986877T>GCA338233570ATP13A2c.3163A>C (p.Ser1055Arg)
c.3031A>C (p.Ser1011Arg)
c.3148A>C (p.Ser1050Arg)
n.1037A>C
c.751A>C (p.Ser251Arg)
c.3160A>C (p.Ser1054Arg)
c.3136A>C (p.Ser1046Arg)
c.3103A>C (p.Ser1035Arg)
c.3046A>C (p.Ser1016Arg)
c.3145A>C (p.Ser1049Arg)
c.3121A>C (p.Ser1041Arg)
c.2956A>C (p.Ser986Arg)
c.3118A>C (p.Ser1040Arg)
1g.16986878G>ACA416093627ATP13A2c.3162C>T (p.Ser1054=)
c.3030C>T (p.Ser1010=)
c.3147C>T (p.Ser1049=)
n.1036C>T
c.750C>T (p.Ser250=)
c.3159C>T (p.Ser1053=)
c.3135C>T (p.Ser1045=)
c.3102C>T (p.Ser1034=)
c.3045C>T (p.Ser1015=)
c.3144C>T (p.Ser1048=)
c.3120C>T (p.Ser1040=)
c.2955C>T (p.Ser985=)
c.3117C>T (p.Ser1039=)
 gnomAD v4
1g.16986878G>CCA416093626ATP13A2c.3162C>G (p.Ser1054=)
c.3030C>G (p.Ser1010=)
c.3147C>G (p.Ser1049=)
n.1036C>G
c.750C>G (p.Ser250=)
c.3159C>G (p.Ser1053=)
c.3135C>G (p.Ser1045=)
c.3102C>G (p.Ser1034=)
c.3045C>G (p.Ser1015=)
c.3144C>G (p.Ser1048=)
c.3120C>G (p.Ser1040=)
c.2955C>G (p.Ser985=)
c.3117C>G (p.Ser1039=)
 dbSNP gnomAD v4
1g.16986878G=CA1156050471ATP13A2c.3162C= (p.Ser1054=)
c.3030C= (p.Ser1010=)
c.3147C= (p.Ser1049=)
n.1036C=
c.750C= (p.Ser250=)
c.3159C= (p.Ser1053=)
c.3135C= (p.Ser1045=)
c.3102C= (p.Ser1034=)
c.3045C= (p.Ser1015=)
c.3144C= (p.Ser1048=)
c.3120C= (p.Ser1040=)
c.2955C= (p.Ser985=)
c.3117C= (p.Ser1039=)
1g.16986878G>TCA416093625ATP13A2c.3162C>A (p.Ser1054=)
c.3030C>A (p.Ser1010=)
c.3147C>A (p.Ser1049=)
n.1036C>A
c.750C>A (p.Ser250=)
c.3159C>A (p.Ser1053=)
c.3135C>A (p.Ser1045=)
c.3102C>A (p.Ser1034=)
c.3045C>A (p.Ser1015=)
c.3144C>A (p.Ser1048=)
c.3120C>A (p.Ser1040=)
c.2955C>A (p.Ser985=)
c.3117C>A (p.Ser1039=)
1g.16986879G>ACA338233573ATP13A2c.3161C>T (p.Ser1054Phe)
c.3029C>T (p.Ser1010Phe)
c.3146C>T (p.Ser1049Phe)
n.1035C>T
c.749C>T (p.Ser250Phe)
c.3158C>T (p.Ser1053Phe)
c.3134C>T (p.Ser1045Phe)
c.3101C>T (p.Ser1034Phe)
c.3044C>T (p.Ser1015Phe)
c.3143C>T (p.Ser1048Phe)
c.3119C>T (p.Ser1040Phe)
c.2954C>T (p.Ser985Phe)
c.3116C>T (p.Ser1039Phe)
1g.16986879G>CCA338233575ATP13A2c.3161C>G (p.Ser1054Cys)
c.3029C>G (p.Ser1010Cys)
c.3146C>G (p.Ser1049Cys)
n.1035C>G
c.749C>G (p.Ser250Cys)
c.3158C>G (p.Ser1053Cys)
c.3134C>G (p.Ser1045Cys)
c.3101C>G (p.Ser1034Cys)
c.3044C>G (p.Ser1015Cys)
c.3143C>G (p.Ser1048Cys)
c.3119C>G (p.Ser1040Cys)
c.2954C>G (p.Ser985Cys)
c.3116C>G (p.Ser1039Cys)
1g.16986879G>TCA338233577ATP13A2c.3161C>A (p.Ser1054Tyr)
c.3029C>A (p.Ser1010Tyr)
c.3146C>A (p.Ser1049Tyr)
n.1035C>A
c.749C>A (p.Ser250Tyr)
c.3158C>A (p.Ser1053Tyr)
c.3134C>A (p.Ser1045Tyr)
c.3101C>A (p.Ser1034Tyr)
c.3044C>A (p.Ser1015Tyr)
c.3143C>A (p.Ser1048Tyr)
c.3119C>A (p.Ser1040Tyr)
c.2954C>A (p.Ser985Tyr)
c.3116C>A (p.Ser1039Tyr)
1g.16986880A>CCA338233581ATP13A2c.3160T>G (p.Ser1054Ala)
c.3028T>G (p.Ser1010Ala)
c.3145T>G (p.Ser1049Ala)
n.1034T>G
c.748T>G (p.Ser250Ala)
c.3157T>G (p.Ser1053Ala)
c.3133T>G (p.Ser1045Ala)
c.3100T>G (p.Ser1034Ala)
c.3043T>G (p.Ser1015Ala)
c.3142T>G (p.Ser1048Ala)
c.3118T>G (p.Ser1040Ala)
c.2953T>G (p.Ser985Ala)
c.3115T>G (p.Ser1039Ala)
1g.16986880A>GCA338233582ATP13A2c.3160T>C (p.Ser1054Pro)
c.3028T>C (p.Ser1010Pro)
c.3145T>C (p.Ser1049Pro)
n.1034T>C
c.748T>C (p.Ser250Pro)
c.3157T>C (p.Ser1053Pro)
c.3133T>C (p.Ser1045Pro)
c.3100T>C (p.Ser1034Pro)
c.3043T>C (p.Ser1015Pro)
c.3142T>C (p.Ser1048Pro)
c.3118T>C (p.Ser1040Pro)
c.2953T>C (p.Ser985Pro)
c.3115T>C (p.Ser1039Pro)
1g.16986880A>TCA338233584ATP13A2c.3160T>A (p.Ser1054Thr)
c.3028T>A (p.Ser1010Thr)
c.3145T>A (p.Ser1049Thr)
n.1034T>A
c.748T>A (p.Ser250Thr)
c.3157T>A (p.Ser1053Thr)
c.3133T>A (p.Ser1045Thr)
c.3100T>A (p.Ser1034Thr)
c.3043T>A (p.Ser1015Thr)
c.3142T>A (p.Ser1048Thr)
c.3118T>A (p.Ser1040Thr)
c.2953T>A (p.Ser985Thr)
c.3115T>A (p.Ser1039Thr)
1g.16986881C>ACA416093720ATP13A2c.3159G>T (p.Leu1053=)
c.3027G>T (p.Leu1009=)
c.3144G>T (p.Leu1048=)
n.1033G>T
c.747G>T (p.Leu249=)
c.3156G>T (p.Leu1052=)
c.3132G>T (p.Leu1044=)
c.3099G>T (p.Leu1033=)
c.3042G>T (p.Leu1014=)
c.3141G>T (p.Leu1047=)
c.3117G>T (p.Leu1039=)
c.2952G>T (p.Leu984=)
c.3114G>T (p.Leu1038=)
1g.16986881C=CA1141739419ATP13A2c.3159G= (p.Leu1053=)
c.3027G= (p.Leu1009=)
c.3144G= (p.Leu1048=)
n.1033G=
c.747G= (p.Leu249=)
c.3156G= (p.Leu1052=)
c.3132G= (p.Leu1044=)
c.3099G= (p.Leu1033=)
c.3042G= (p.Leu1014=)
c.3141G= (p.Leu1047=)
c.3117G= (p.Leu1039=)
c.2952G= (p.Leu984=)
c.3114G= (p.Leu1038=)
1g.16986881C>GCA636587ATP13A2c.3159G>C (p.Leu1053=)
c.3027G>C (p.Leu1009=)
c.3144G>C (p.Leu1048=)
n.1033G>C
c.747G>C (p.Leu249=)
c.3156G>C (p.Leu1052=)
c.3132G>C (p.Leu1044=)
c.3099G>C (p.Leu1033=)
c.3042G>C (p.Leu1014=)
c.3141G>C (p.Leu1047=)
c.3117G>C (p.Leu1039=)
c.2952G>C (p.Leu984=)
c.3114G>C (p.Leu1038=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986881C>TCA416093721ATP13A2c.3159G>A (p.Leu1053=)
c.3027G>A (p.Leu1009=)
c.3144G>A (p.Leu1048=)
n.1033G>A
c.747G>A (p.Leu249=)
c.3156G>A (p.Leu1052=)
c.3132G>A (p.Leu1044=)
c.3099G>A (p.Leu1033=)
c.3042G>A (p.Leu1014=)
c.3141G>A (p.Leu1047=)
c.3117G>A (p.Leu1039=)
c.2952G>A (p.Leu984=)
c.3114G>A (p.Leu1038=)
 gnomAD v4
1g.16986881_16986883delinsCAGCA1156050477ATP13A2c.3157_3159delinsCTG (p.Leu1053=)
c.3025_3027delinsCTG (p.Leu1009=)
c.3142_3144delinsCTG (p.Leu1048=)
n.1031_1033delinsCTG
c.745_747delinsCTG (p.Leu249=)
c.3154_3156delinsCTG (p.Leu1052=)
c.3130_3132delinsCTG (p.Leu1044=)
c.3097_3099delinsCTG (p.Leu1033=)
c.3040_3042delinsCTG (p.Leu1014=)
c.3139_3141delinsCTG (p.Leu1047=)
c.3115_3117delinsCTG (p.Leu1039=)
c.2950_2952delinsCTG (p.Leu984=)
c.3112_3114delinsCTG (p.Leu1038=)
1g.16986882A>CCA338233585ATP13A2c.3158T>G (p.Leu1053Arg)
c.3026T>G (p.Leu1009Arg)
c.3143T>G (p.Leu1048Arg)
n.1032T>G
c.746T>G (p.Leu249Arg)
c.3155T>G (p.Leu1052Arg)
c.3131T>G (p.Leu1044Arg)
c.3098T>G (p.Leu1033Arg)
c.3041T>G (p.Leu1014Arg)
c.3140T>G (p.Leu1047Arg)
c.3116T>G (p.Leu1039Arg)
c.2951T>G (p.Leu984Arg)
c.3113T>G (p.Leu1038Arg)
1g.16986882A>GCA338233586ATP13A2c.3158T>C (p.Leu1053Pro)
c.3026T>C (p.Leu1009Pro)
c.3143T>C (p.Leu1048Pro)
n.1032T>C
c.746T>C (p.Leu249Pro)
c.3155T>C (p.Leu1052Pro)
c.3131T>C (p.Leu1044Pro)
c.3098T>C (p.Leu1033Pro)
c.3041T>C (p.Leu1014Pro)
c.3140T>C (p.Leu1047Pro)
c.3116T>C (p.Leu1039Pro)
c.2951T>C (p.Leu984Pro)
c.3113T>C (p.Leu1038Pro)
1g.16986882A>TCA338233588ATP13A2c.3158T>A (p.Leu1053Gln)
c.3026T>A (p.Leu1009Gln)
c.3143T>A (p.Leu1048Gln)
n.1032T>A
c.746T>A (p.Leu249Gln)
c.3155T>A (p.Leu1052Gln)
c.3131T>A (p.Leu1044Gln)
c.3098T>A (p.Leu1033Gln)
c.3041T>A (p.Leu1014Gln)
c.3140T>A (p.Leu1047Gln)
c.3116T>A (p.Leu1039Gln)
c.2951T>A (p.Leu984Gln)
c.3113T>A (p.Leu1038Gln)
1g.16986887_16986888delCA915941147ATP13A2c.3157_3158del (p.Leu1053ValfsTer?)
c.3025_3026del (p.Leu1009ValfsTer26)
c.3142_3143del (p.Leu1048ValfsTer?)
n.1031_1032del
c.745_746del (p.Leu249ValfsTer26)
c.3157_3158del (p.Leu1053ValfsTer26)
c.3154_3155del (p.Leu1052ValfsTer26)
c.3142_3143del (p.Leu1048ValfsTer26)
c.3130_3131del (p.Leu1044ValfsTer26)
c.3097_3098del (p.Leu1033ValfsTer26)
c.3040_3041del (p.Leu1014ValfsTer26)
c.3139_3140del (p.Leu1047ValfsTer26)
c.3115_3116del (p.Leu1039ValfsTer26)
c.2950_2951del (p.Leu984ValfsTer26)
c.3139_3140del (p.Leu1047ValfsTer?)
c.3115_3116del (p.Leu1039ValfsTer?)
c.3112_3113del (p.Leu1038ValfsTer?)
c.3040_3041del (p.Leu1014ValfsTer?)
c.3025_3026del (p.Leu1009ValfsTer?)
c.2950_2951del (p.Leu984ValfsTer?)
 ClinVar dbSNP gnomAD v4
1g.16986883G>ACA416093722ATP13A2c.3157C>T (p.Leu1053=)
c.3025C>T (p.Leu1009=)
c.3142C>T (p.Leu1048=)
n.1031C>T
c.745C>T (p.Leu249=)
c.3154C>T (p.Leu1052=)
c.3130C>T (p.Leu1044=)
c.3097C>T (p.Leu1033=)
c.3040C>T (p.Leu1014=)
c.3139C>T (p.Leu1047=)
c.3115C>T (p.Leu1039=)
c.2950C>T (p.Leu984=)
c.3112C>T (p.Leu1038=)
1g.16986883G>CCA18625744ATP13A2c.3157C>G (p.Leu1053Val)
c.3025C>G (p.Leu1009Val)
c.3142C>G (p.Leu1048Val)
n.1031C>G
c.745C>G (p.Leu249Val)
c.3154C>G (p.Leu1052Val)
c.3130C>G (p.Leu1044Val)
c.3097C>G (p.Leu1033Val)
c.3040C>G (p.Leu1014Val)
c.3139C>G (p.Leu1047Val)
c.3115C>G (p.Leu1039Val)
c.2950C>G (p.Leu984Val)
c.3112C>G (p.Leu1038Val)
 dbSNP
1g.16986883G=CA1156050482ATP13A2c.3157C= (p.Leu1053=)
c.3025C= (p.Leu1009=)
c.3142C= (p.Leu1048=)
n.1031C=
c.745C= (p.Leu249=)
c.3154C= (p.Leu1052=)
c.3130C= (p.Leu1044=)
c.3097C= (p.Leu1033=)
c.3040C= (p.Leu1014=)
c.3139C= (p.Leu1047=)
c.3115C= (p.Leu1039=)
c.2950C= (p.Leu984=)
c.3112C= (p.Leu1038=)
1g.16986883G>TCA338233593ATP13A2c.3157C>A (p.Leu1053Met)
c.3025C>A (p.Leu1009Met)
c.3142C>A (p.Leu1048Met)
n.1031C>A
c.745C>A (p.Leu249Met)
c.3154C>A (p.Leu1052Met)
c.3130C>A (p.Leu1044Met)
c.3097C>A (p.Leu1033Met)
c.3040C>A (p.Leu1014Met)
c.3139C>A (p.Leu1047Met)
c.3115C>A (p.Leu1039Met)
c.2950C>A (p.Leu984Met)
c.3112C>A (p.Leu1038Met)
1g.16986884A=CA1156050487ATP13A2c.3156T= (p.Ser1052=)
c.3024T= (p.Ser1008=)
c.3141T= (p.Ser1047=)
n.1030T=
c.744T= (p.Ser248=)
c.3153T= (p.Ser1051=)
c.3129T= (p.Ser1043=)
c.3096T= (p.Ser1032=)
c.3039T= (p.Ser1013=)
c.3138T= (p.Ser1046=)
c.3114T= (p.Ser1038=)
c.2949T= (p.Ser983=)
c.3111T= (p.Ser1037=)
1g.16986884A>CCA416093723ATP13A2c.3156T>G (p.Ser1052=)
c.3024T>G (p.Ser1008=)
c.3141T>G (p.Ser1047=)
n.1030T>G
c.744T>G (p.Ser248=)
c.3153T>G (p.Ser1051=)
c.3129T>G (p.Ser1043=)
c.3096T>G (p.Ser1032=)
c.3039T>G (p.Ser1013=)
c.3138T>G (p.Ser1046=)
c.3114T>G (p.Ser1038=)
c.2949T>G (p.Ser983=)
c.3111T>G (p.Ser1037=)
1g.16986884A>GCA416093724ATP13A2c.3156T>C (p.Ser1052=)
c.3024T>C (p.Ser1008=)
c.3141T>C (p.Ser1047=)
n.1030T>C
c.744T>C (p.Ser248=)
c.3153T>C (p.Ser1051=)
c.3129T>C (p.Ser1043=)
c.3096T>C (p.Ser1032=)
c.3039T>C (p.Ser1013=)
c.3138T>C (p.Ser1046=)
c.3114T>C (p.Ser1038=)
c.2949T>C (p.Ser983=)
c.3111T>C (p.Ser1037=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986884A>TCA416093725ATP13A2c.3156T>A (p.Ser1052=)
c.3024T>A (p.Ser1008=)
c.3141T>A (p.Ser1047=)
n.1030T>A
c.744T>A (p.Ser248=)
c.3153T>A (p.Ser1051=)
c.3129T>A (p.Ser1043=)
c.3096T>A (p.Ser1032=)
c.3039T>A (p.Ser1013=)
c.3138T>A (p.Ser1046=)
c.3114T>A (p.Ser1038=)
c.2949T>A (p.Ser983=)
c.3111T>A (p.Ser1037=)
1g.16986884dupCA1156050490ATP13A2c.3156dup (p.Leu1053SerfsTer?)
c.3024dup (p.Leu1009SerfsTer27)
c.3141dup (p.Leu1048SerfsTer?)
n.1030dup
c.744dup (p.Leu249SerfsTer27)
c.3156dup (p.Leu1053SerfsTer27)
c.3153dup (p.Leu1052SerfsTer27)
c.3141dup (p.Leu1048SerfsTer27)
c.3129dup (p.Leu1044SerfsTer27)
c.3096dup (p.Leu1033SerfsTer27)
c.3039dup (p.Leu1014SerfsTer27)
c.3138dup (p.Leu1047SerfsTer27)
c.3114dup (p.Leu1039SerfsTer27)
c.2949dup (p.Leu984SerfsTer27)
c.3138dup (p.Leu1047SerfsTer?)
c.3114dup (p.Leu1039SerfsTer?)
c.3111dup (p.Leu1038SerfsTer?)
c.3039dup (p.Leu1014SerfsTer?)
c.3024dup (p.Leu1009SerfsTer?)
c.2949dup (p.Leu984SerfsTer?)
 dbSNP
1g.16986885G>ACA338233599ATP13A2c.3155C>T (p.Ser1052Phe)
c.3023C>T (p.Ser1008Phe)
c.3140C>T (p.Ser1047Phe)
n.1029C>T
c.743C>T (p.Ser248Phe)
c.3152C>T (p.Ser1051Phe)
c.3128C>T (p.Ser1043Phe)
c.3095C>T (p.Ser1032Phe)
c.3038C>T (p.Ser1013Phe)
c.3137C>T (p.Ser1046Phe)
c.3113C>T (p.Ser1038Phe)
c.2948C>T (p.Ser983Phe)
c.3110C>T (p.Ser1037Phe)
 gnomAD v4
1g.16986885G>CCA338233598ATP13A2c.3155C>G (p.Ser1052Cys)
c.3023C>G (p.Ser1008Cys)
c.3140C>G (p.Ser1047Cys)
n.1029C>G
c.743C>G (p.Ser248Cys)
c.3152C>G (p.Ser1051Cys)
c.3128C>G (p.Ser1043Cys)
c.3095C>G (p.Ser1032Cys)
c.3038C>G (p.Ser1013Cys)
c.3137C>G (p.Ser1046Cys)
c.3113C>G (p.Ser1038Cys)
c.2948C>G (p.Ser983Cys)
c.3110C>G (p.Ser1037Cys)
 gnomAD v4
1g.16986885G>TCA338233595ATP13A2c.3155C>A (p.Ser1052Tyr)
c.3023C>A (p.Ser1008Tyr)
c.3140C>A (p.Ser1047Tyr)
n.1029C>A
c.743C>A (p.Ser248Tyr)
c.3152C>A (p.Ser1051Tyr)
c.3128C>A (p.Ser1043Tyr)
c.3095C>A (p.Ser1032Tyr)
c.3038C>A (p.Ser1013Tyr)
c.3137C>A (p.Ser1046Tyr)
c.3113C>A (p.Ser1038Tyr)
c.2948C>A (p.Ser983Tyr)
c.3110C>A (p.Ser1037Tyr)
1g.16986885_16986888delinsGAGACA1156050492ATP13A2c.3152_3155delinsTCTC (p.Phe1051=)
c.3020_3023delinsTCTC (p.Phe1007=)
c.3137_3140delinsTCTC (p.Phe1046=)
n.1026_1029delinsTCTC
c.740_743delinsTCTC (p.Phe247=)
c.3149_3152delinsTCTC (p.Phe1050=)
c.3125_3128delinsTCTC (p.Phe1042=)
c.3092_3095delinsTCTC (p.Phe1031=)
c.3035_3038delinsTCTC (p.Phe1012=)
c.3134_3137delinsTCTC (p.Phe1045=)
c.3110_3113delinsTCTC (p.Phe1037=)
c.2945_2948delinsTCTC (p.Phe982=)
c.3107_3110delinsTCTC (p.Phe1036=)
1g.16986886A=CA1156050496ATP13A2c.3154T= (p.Ser1052=)
c.3022T= (p.Ser1008=)
c.3139T= (p.Ser1047=)
n.1028T=
c.742T= (p.Ser248=)
c.3151T= (p.Ser1051=)
c.3127T= (p.Ser1043=)
c.3094T= (p.Ser1032=)
c.3037T= (p.Ser1013=)
c.3136T= (p.Ser1046=)
c.3112T= (p.Ser1038=)
c.2947T= (p.Ser983=)
c.3109T= (p.Ser1037=)
1g.16986886A>CCA338233602ATP13A2c.3154T>G (p.Ser1052Ala)
c.3022T>G (p.Ser1008Ala)
c.3139T>G (p.Ser1047Ala)
n.1028T>G
c.742T>G (p.Ser248Ala)
c.3151T>G (p.Ser1051Ala)
c.3127T>G (p.Ser1043Ala)
c.3094T>G (p.Ser1032Ala)
c.3037T>G (p.Ser1013Ala)
c.3136T>G (p.Ser1046Ala)
c.3112T>G (p.Ser1038Ala)
c.2947T>G (p.Ser983Ala)
c.3109T>G (p.Ser1037Ala)
1g.16986886A>GCA338233603ATP13A2c.3154T>C (p.Ser1052Pro)
c.3022T>C (p.Ser1008Pro)
c.3139T>C (p.Ser1047Pro)
n.1028T>C
c.742T>C (p.Ser248Pro)
c.3151T>C (p.Ser1051Pro)
c.3127T>C (p.Ser1043Pro)
c.3094T>C (p.Ser1032Pro)
c.3037T>C (p.Ser1013Pro)
c.3136T>C (p.Ser1046Pro)
c.3112T>C (p.Ser1038Pro)
c.2947T>C (p.Ser983Pro)
c.3109T>C (p.Ser1037Pro)
 gnomAD v4
1g.16986886A>TCA338233608ATP13A2c.3154T>A (p.Ser1052Thr)
c.3022T>A (p.Ser1008Thr)
c.3139T>A (p.Ser1047Thr)
n.1028T>A
c.742T>A (p.Ser248Thr)
c.3151T>A (p.Ser1051Thr)
c.3127T>A (p.Ser1043Thr)
c.3094T>A (p.Ser1032Thr)
c.3037T>A (p.Ser1013Thr)
c.3136T>A (p.Ser1046Thr)
c.3112T>A (p.Ser1038Thr)
c.2947T>A (p.Ser983Thr)
c.3109T>A (p.Ser1037Thr)
1g.16986889_16986891delCA16043958ATP13A2c.3152_3154del (p.Phe1051del)
c.3020_3022del (p.Phe1007del)
c.3137_3139del (p.Phe1046del)
n.1026_1028del
c.740_742del (p.Phe247del)
c.3149_3151del (p.Phe1050del)
c.3125_3127del (p.Phe1042del)
c.3092_3094del (p.Phe1031del)
c.3035_3037del (p.Phe1012del)
c.3134_3136del (p.Phe1045del)
c.3110_3112del (p.Phe1037del)
c.2945_2947del (p.Phe982del)
c.3107_3109del (p.Phe1036del)
 ClinVar dbSNP gnomAD v4
1g.16986887G>ACA416093726ATP13A2c.3153C>T (p.Phe1051=)
c.3021C>T (p.Phe1007=)
c.3138C>T (p.Phe1046=)
n.1027C>T
c.741C>T (p.Phe247=)
c.3150C>T (p.Phe1050=)
c.3126C>T (p.Phe1042=)
c.3093C>T (p.Phe1031=)
c.3036C>T (p.Phe1012=)
c.3135C>T (p.Phe1045=)
c.3111C>T (p.Phe1037=)
c.2946C>T (p.Phe982=)
c.3108C>T (p.Phe1036=)
1g.16986887G>CCA338233614ATP13A2c.3153C>G (p.Phe1051Leu)
c.3021C>G (p.Phe1007Leu)
c.3138C>G (p.Phe1046Leu)
n.1027C>G
c.741C>G (p.Phe247Leu)
c.3150C>G (p.Phe1050Leu)
c.3126C>G (p.Phe1042Leu)
c.3093C>G (p.Phe1031Leu)
c.3036C>G (p.Phe1012Leu)
c.3135C>G (p.Phe1045Leu)
c.3111C>G (p.Phe1037Leu)
c.2946C>G (p.Phe982Leu)
c.3108C>G (p.Phe1036Leu)
1g.16986887G=CA1148475407ATP13A2c.3153C= (p.Phe1051=)
c.3021C= (p.Phe1007=)
c.3138C= (p.Phe1046=)
n.1027C=
c.741C= (p.Phe247=)
c.3150C= (p.Phe1050=)
c.3126C= (p.Phe1042=)
c.3093C= (p.Phe1031=)
c.3036C= (p.Phe1012=)
c.3135C= (p.Phe1045=)
c.3111C= (p.Phe1037=)
c.2946C= (p.Phe982=)
c.3108C= (p.Phe1036=)
1g.16986887G>TCA338233615ATP13A2c.3153C>A (p.Phe1051Leu)
c.3021C>A (p.Phe1007Leu)
c.3138C>A (p.Phe1046Leu)
n.1027C>A
c.741C>A (p.Phe247Leu)
c.3150C>A (p.Phe1050Leu)
c.3126C>A (p.Phe1042Leu)
c.3093C>A (p.Phe1031Leu)
c.3036C>A (p.Phe1012Leu)
c.3135C>A (p.Phe1045Leu)
c.3111C>A (p.Phe1037Leu)
c.2946C>A (p.Phe982Leu)
c.3108C>A (p.Phe1036Leu)
1g.16986887dupCA636588ATP13A2c.3153dup (p.Ser1052LeufsTer?)
c.3021dup (p.Ser1008LeufsTer28)
c.3138dup (p.Ser1047LeufsTer?)
n.1027dup
c.741dup (p.Ser248LeufsTer28)
c.3153dup (p.Ser1052LeufsTer28)
c.3150dup (p.Ser1051LeufsTer28)
c.3138dup (p.Ser1047LeufsTer28)
c.3126dup (p.Ser1043LeufsTer28)
c.3093dup (p.Ser1032LeufsTer28)
c.3036dup (p.Ser1013LeufsTer28)
c.3135dup (p.Ser1046LeufsTer28)
c.3111dup (p.Ser1038LeufsTer28)
c.2946dup (p.Ser983LeufsTer28)
c.3135dup (p.Ser1046LeufsTer?)
c.3111dup (p.Ser1038LeufsTer?)
c.3108dup (p.Ser1037LeufsTer?)
c.3036dup (p.Ser1013LeufsTer?)
c.3021dup (p.Ser1008LeufsTer?)
c.2946dup (p.Ser983LeufsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.16986887_16986889delinsGAACA1156050500ATP13A2c.3151_3153delinsTTC (p.Phe1051=)
c.3019_3021delinsTTC (p.Phe1007=)
c.3136_3138delinsTTC (p.Phe1046=)
n.1025_1027delinsTTC
c.739_741delinsTTC (p.Phe247=)
c.3148_3150delinsTTC (p.Phe1050=)
c.3124_3126delinsTTC (p.Phe1042=)
c.3091_3093delinsTTC (p.Phe1031=)
c.3034_3036delinsTTC (p.Phe1012=)
c.3133_3135delinsTTC (p.Phe1045=)
c.3109_3111delinsTTC (p.Phe1037=)
c.2944_2946delinsTTC (p.Phe982=)
c.3106_3108delinsTTC (p.Phe1036=)
1g.16986888A>CCA338233618ATP13A2c.3152T>G (p.Phe1051Cys)
c.3020T>G (p.Phe1007Cys)
c.3137T>G (p.Phe1046Cys)
n.1026T>G
c.740T>G (p.Phe247Cys)
c.3149T>G (p.Phe1050Cys)
c.3125T>G (p.Phe1042Cys)
c.3092T>G (p.Phe1031Cys)
c.3035T>G (p.Phe1012Cys)
c.3134T>G (p.Phe1045Cys)
c.3110T>G (p.Phe1037Cys)
c.2945T>G (p.Phe982Cys)
c.3107T>G (p.Phe1036Cys)
1g.16986888A>GCA338233623ATP13A2c.3152T>C (p.Phe1051Ser)
c.3020T>C (p.Phe1007Ser)
c.3137T>C (p.Phe1046Ser)
n.1026T>C
c.740T>C (p.Phe247Ser)
c.3149T>C (p.Phe1050Ser)
c.3125T>C (p.Phe1042Ser)
c.3092T>C (p.Phe1031Ser)
c.3035T>C (p.Phe1012Ser)
c.3134T>C (p.Phe1045Ser)
c.3110T>C (p.Phe1037Ser)
c.2945T>C (p.Phe982Ser)
c.3107T>C (p.Phe1036Ser)
1g.16986888A>TCA338233624ATP13A2c.3152T>A (p.Phe1051Tyr)
c.3020T>A (p.Phe1007Tyr)
c.3137T>A (p.Phe1046Tyr)
n.1026T>A
c.740T>A (p.Phe247Tyr)
c.3149T>A (p.Phe1050Tyr)
c.3125T>A (p.Phe1042Tyr)
c.3092T>A (p.Phe1031Tyr)
c.3035T>A (p.Phe1012Tyr)
c.3134T>A (p.Phe1045Tyr)
c.3110T>A (p.Phe1037Tyr)
c.2945T>A (p.Phe982Tyr)
c.3107T>A (p.Phe1036Tyr)
1g.16986888_16986889delCA1156050503ATP13A2c.3151_3152del (p.Phe1051LeufsTer?)
c.3019_3020del (p.Phe1007LeufsTer28)
c.3136_3137del (p.Phe1046LeufsTer?)
n.1025_1026del
c.739_740del (p.Phe247LeufsTer28)
c.3151_3152del (p.Phe1051LeufsTer28)
c.3148_3149del (p.Phe1050LeufsTer28)
c.3136_3137del (p.Phe1046LeufsTer28)
c.3124_3125del (p.Phe1042LeufsTer28)
c.3091_3092del (p.Phe1031LeufsTer28)
c.3034_3035del (p.Phe1012LeufsTer28)
c.3133_3134del (p.Phe1045LeufsTer28)
c.3109_3110del (p.Phe1037LeufsTer28)
c.2944_2945del (p.Phe982LeufsTer28)
c.3133_3134del (p.Phe1045LeufsTer?)
c.3109_3110del (p.Phe1037LeufsTer?)
c.3106_3107del (p.Phe1036LeufsTer?)
c.3034_3035del (p.Phe1012LeufsTer?)
c.3019_3020del (p.Phe1007LeufsTer?)
c.2944_2945del (p.Phe982LeufsTer?)
 ClinVar dbSNP
1g.16986889delCA2643671211ATP13A2c.3152del (p.Phe1051SerfsTer?)
c.3020del (p.Phe1007SerfsTer?)
c.3137del (p.Phe1046SerfsTer?)
n.1026del
c.740del (p.Phe247SerfsTer?)
c.3149del (p.Phe1050SerfsTer?)
c.3125del (p.Phe1042SerfsTer?)
c.3092del (p.Phe1031SerfsTer?)
c.3035del (p.Phe1012SerfsTer?)
c.3134del (p.Phe1045SerfsTer?)
c.3110del (p.Phe1037SerfsTer?)
c.2945del (p.Phe982SerfsTer?)
c.3107del (p.Phe1036SerfsTer?)
 gnomAD v4
1g.16986889A=CA1156050507ATP13A2c.3151T= (p.Phe1051=)
c.3019T= (p.Phe1007=)
c.3136T= (p.Phe1046=)
n.1025T=
c.739T= (p.Phe247=)
c.3148T= (p.Phe1050=)
c.3124T= (p.Phe1042=)
c.3091T= (p.Phe1031=)
c.3034T= (p.Phe1012=)
c.3133T= (p.Phe1045=)
c.3109T= (p.Phe1037=)
c.2944T= (p.Phe982=)
c.3106T= (p.Phe1036=)
1g.16986889A>CCA338233625ATP13A2c.3151T>G (p.Phe1051Val)
c.3019T>G (p.Phe1007Val)
c.3136T>G (p.Phe1046Val)
n.1025T>G
c.739T>G (p.Phe247Val)
c.3148T>G (p.Phe1050Val)
c.3124T>G (p.Phe1042Val)
c.3091T>G (p.Phe1031Val)
c.3034T>G (p.Phe1012Val)
c.3133T>G (p.Phe1045Val)
c.3109T>G (p.Phe1037Val)
c.2944T>G (p.Phe982Val)
c.3106T>G (p.Phe1036Val)
 dbSNP gnomAD v2 gnomAD v4
1g.16986889A>GCA338233627ATP13A2c.3151T>C (p.Phe1051Leu)
c.3019T>C (p.Phe1007Leu)
c.3136T>C (p.Phe1046Leu)
n.1025T>C
c.739T>C (p.Phe247Leu)
c.3148T>C (p.Phe1050Leu)
c.3124T>C (p.Phe1042Leu)
c.3091T>C (p.Phe1031Leu)
c.3034T>C (p.Phe1012Leu)
c.3133T>C (p.Phe1045Leu)
c.3109T>C (p.Phe1037Leu)
c.2944T>C (p.Phe982Leu)
c.3106T>C (p.Phe1036Leu)
1g.16986889A>TCA338233628ATP13A2c.3151T>A (p.Phe1051Ile)
c.3019T>A (p.Phe1007Ile)
c.3136T>A (p.Phe1046Ile)
n.1025T>A
c.739T>A (p.Phe247Ile)
c.3148T>A (p.Phe1050Ile)
c.3124T>A (p.Phe1042Ile)
c.3091T>A (p.Phe1031Ile)
c.3034T>A (p.Phe1012Ile)
c.3133T>A (p.Phe1045Ile)
c.3109T>A (p.Phe1037Ile)
c.2944T>A (p.Phe982Ile)
c.3106T>A (p.Phe1036Ile)
1g.16986890G>ACA416093727ATP13A2c.3150C>T (p.Val1050=)
c.3018C>T (p.Val1006=)
c.3135C>T (p.Val1045=)
n.1024C>T
c.738C>T (p.Val246=)
c.3147C>T (p.Val1049=)
c.3123C>T (p.Val1041=)
c.3090C>T (p.Val1030=)
c.3033C>T (p.Val1011=)
c.3132C>T (p.Val1044=)
c.3108C>T (p.Val1036=)
c.2943C>T (p.Val981=)
c.3105C>T (p.Val1035=)
 gnomAD v4
1g.16986890G>CCA416093728ATP13A2c.3150C>G (p.Val1050=)
c.3018C>G (p.Val1006=)
c.3135C>G (p.Val1045=)
n.1024C>G
c.738C>G (p.Val246=)
c.3147C>G (p.Val1049=)
c.3123C>G (p.Val1041=)
c.3090C>G (p.Val1030=)
c.3033C>G (p.Val1011=)
c.3132C>G (p.Val1044=)
c.3108C>G (p.Val1036=)
c.2943C>G (p.Val981=)
c.3105C>G (p.Val1035=)
 COSMIC COSMIC
1g.16986890G>TCA416093729ATP13A2c.3150C>A (p.Val1050=)
c.3018C>A (p.Val1006=)
c.3135C>A (p.Val1045=)
n.1024C>A
c.738C>A (p.Val246=)
c.3147C>A (p.Val1049=)
c.3123C>A (p.Val1041=)
c.3090C>A (p.Val1030=)
c.3033C>A (p.Val1011=)
c.3132C>A (p.Val1044=)
c.3108C>A (p.Val1036=)
c.2943C>A (p.Val981=)
c.3105C>A (p.Val1035=)
1g.16986891A>CCA338233634ATP13A2c.3149T>G (p.Val1050Gly)
c.3017T>G (p.Val1006Gly)
c.3134T>G (p.Val1045Gly)
n.1023T>G
c.737T>G (p.Val246Gly)
c.3146T>G (p.Val1049Gly)
c.3122T>G (p.Val1041Gly)
c.3089T>G (p.Val1030Gly)
c.3032T>G (p.Val1011Gly)
c.3131T>G (p.Val1044Gly)
c.3107T>G (p.Val1036Gly)
c.2942T>G (p.Val981Gly)
c.3104T>G (p.Val1035Gly)
1g.16986891A>GCA338233633ATP13A2c.3149T>C (p.Val1050Ala)
c.3017T>C (p.Val1006Ala)
c.3134T>C (p.Val1045Ala)
n.1023T>C
c.737T>C (p.Val246Ala)
c.3146T>C (p.Val1049Ala)
c.3122T>C (p.Val1041Ala)
c.3089T>C (p.Val1030Ala)
c.3032T>C (p.Val1011Ala)
c.3131T>C (p.Val1044Ala)
c.3107T>C (p.Val1036Ala)
c.2942T>C (p.Val981Ala)
c.3104T>C (p.Val1035Ala)
1g.16986891A>TCA338233630ATP13A2c.3149T>A (p.Val1050Asp)
c.3017T>A (p.Val1006Asp)
c.3134T>A (p.Val1045Asp)
n.1023T>A
c.737T>A (p.Val246Asp)
c.3146T>A (p.Val1049Asp)
c.3122T>A (p.Val1041Asp)
c.3089T>A (p.Val1030Asp)
c.3032T>A (p.Val1011Asp)
c.3131T>A (p.Val1044Asp)
c.3107T>A (p.Val1036Asp)
c.2942T>A (p.Val981Asp)
c.3104T>A (p.Val1035Asp)
 gnomAD v4
1g.16986892C>ACA338233636ATP13A2c.3148G>T (p.Val1050Phe)
c.3016G>T (p.Val1006Phe)
c.3133G>T (p.Val1045Phe)
n.1022G>T
c.736G>T (p.Val246Phe)
c.3145G>T (p.Val1049Phe)
c.3121G>T (p.Val1041Phe)
c.3088G>T (p.Val1030Phe)
c.3031G>T (p.Val1011Phe)
c.3130G>T (p.Val1044Phe)
c.3106G>T (p.Val1036Phe)
c.2941G>T (p.Val981Phe)
c.3103G>T (p.Val1035Phe)
1g.16986892C>GCA338233637ATP13A2c.3148G>C (p.Val1050Leu)
c.3016G>C (p.Val1006Leu)
c.3133G>C (p.Val1045Leu)
n.1022G>C
c.736G>C (p.Val246Leu)
c.3145G>C (p.Val1049Leu)
c.3121G>C (p.Val1041Leu)
c.3088G>C (p.Val1030Leu)
c.3031G>C (p.Val1011Leu)
c.3130G>C (p.Val1044Leu)
c.3106G>C (p.Val1036Leu)
c.2941G>C (p.Val981Leu)
c.3103G>C (p.Val1035Leu)
1g.16986892C>TCA338233639ATP13A2c.3148G>A (p.Val1050Ile)
c.3016G>A (p.Val1006Ile)
c.3133G>A (p.Val1045Ile)
n.1022G>A
c.736G>A (p.Val246Ile)
c.3145G>A (p.Val1049Ile)
c.3121G>A (p.Val1041Ile)
c.3088G>A (p.Val1030Ile)
c.3031G>A (p.Val1011Ile)
c.3130G>A (p.Val1044Ile)
c.3106G>A (p.Val1036Ile)
c.2941G>A (p.Val981Ile)
c.3103G>A (p.Val1035Ile)
1g.16986893C>ACA416093731ATP13A2c.3147G>T (p.Val1049=)
c.3015G>T (p.Val1005=)
c.3132G>T (p.Val1044=)
n.1021G>T
c.735G>T (p.Val245=)
c.3144G>T (p.Val1048=)
c.3120G>T (p.Val1040=)
c.3087G>T (p.Val1029=)
c.3030G>T (p.Val1010=)
c.3129G>T (p.Val1043=)
c.3105G>T (p.Val1035=)
c.2940G>T (p.Val980=)
c.3102G>T (p.Val1034=)
1g.16986893C>GCA416093732ATP13A2c.3147G>C (p.Val1049=)
c.3015G>C (p.Val1005=)
c.3132G>C (p.Val1044=)
n.1021G>C
c.735G>C (p.Val245=)
c.3144G>C (p.Val1048=)
c.3120G>C (p.Val1040=)
c.3087G>C (p.Val1029=)
c.3030G>C (p.Val1010=)
c.3129G>C (p.Val1043=)
c.3105G>C (p.Val1035=)
c.2940G>C (p.Val980=)
c.3102G>C (p.Val1034=)
1g.16986893C>TCA416093733ATP13A2c.3147G>A (p.Val1049=)
c.3015G>A (p.Val1005=)
c.3132G>A (p.Val1044=)
n.1021G>A
c.735G>A (p.Val245=)
c.3144G>A (p.Val1048=)
c.3120G>A (p.Val1040=)
c.3087G>A (p.Val1029=)
c.3030G>A (p.Val1010=)
c.3129G>A (p.Val1043=)
c.3105G>A (p.Val1035=)
c.2940G>A (p.Val980=)
c.3102G>A (p.Val1034=)
1g.16986894A>CCA338233641ATP13A2c.3146T>G (p.Val1049Gly)
c.3014T>G (p.Val1005Gly)
c.3131T>G (p.Val1044Gly)
n.1020T>G
c.734T>G (p.Val245Gly)
c.3143T>G (p.Val1048Gly)
c.3119T>G (p.Val1040Gly)
c.3086T>G (p.Val1029Gly)
c.3029T>G (p.Val1010Gly)
c.3128T>G (p.Val1043Gly)
c.3104T>G (p.Val1035Gly)
c.2939T>G (p.Val980Gly)
c.3101T>G (p.Val1034Gly)
1g.16986894A>GCA338233642ATP13A2c.3146T>C (p.Val1049Ala)
c.3014T>C (p.Val1005Ala)
c.3131T>C (p.Val1044Ala)
n.1020T>C
c.734T>C (p.Val245Ala)
c.3143T>C (p.Val1048Ala)
c.3119T>C (p.Val1040Ala)
c.3086T>C (p.Val1029Ala)
c.3029T>C (p.Val1010Ala)
c.3128T>C (p.Val1043Ala)
c.3104T>C (p.Val1035Ala)
c.2939T>C (p.Val980Ala)
c.3101T>C (p.Val1034Ala)
1g.16986894A>TCA338233646ATP13A2c.3146T>A (p.Val1049Glu)
c.3014T>A (p.Val1005Glu)
c.3131T>A (p.Val1044Glu)
n.1020T>A
c.734T>A (p.Val245Glu)
c.3143T>A (p.Val1048Glu)
c.3119T>A (p.Val1040Glu)
c.3086T>A (p.Val1029Glu)
c.3029T>A (p.Val1010Glu)
c.3128T>A (p.Val1043Glu)
c.3104T>A (p.Val1035Glu)
c.2939T>A (p.Val980Glu)
c.3101T>A (p.Val1034Glu)
1g.16986895C>ACA338233647ATP13A2c.3145G>T (p.Val1049Leu)
c.3013G>T (p.Val1005Leu)
c.3130G>T (p.Val1044Leu)
n.1019G>T
c.733G>T (p.Val245Leu)
c.3142G>T (p.Val1048Leu)
c.3118G>T (p.Val1040Leu)
c.3085G>T (p.Val1029Leu)
c.3028G>T (p.Val1010Leu)
c.3127G>T (p.Val1043Leu)
c.3103G>T (p.Val1035Leu)
c.2938G>T (p.Val980Leu)
c.3100G>T (p.Val1034Leu)
1g.16986895C=CA1156050512ATP13A2c.3145G= (p.Val1049=)
c.3013G= (p.Val1005=)
c.3130G= (p.Val1044=)
n.1019G=
c.733G= (p.Val245=)
c.3142G= (p.Val1048=)
c.3118G= (p.Val1040=)
c.3085G= (p.Val1029=)
c.3028G= (p.Val1010=)
c.3127G= (p.Val1043=)
c.3103G= (p.Val1035=)
c.2938G= (p.Val980=)
c.3100G= (p.Val1034=)
1g.16986895C>GCA338233648ATP13A2c.3145G>C (p.Val1049Leu)
c.3013G>C (p.Val1005Leu)
c.3130G>C (p.Val1044Leu)
n.1019G>C
c.733G>C (p.Val245Leu)
c.3142G>C (p.Val1048Leu)
c.3118G>C (p.Val1040Leu)
c.3085G>C (p.Val1029Leu)
c.3028G>C (p.Val1010Leu)
c.3127G>C (p.Val1043Leu)
c.3103G>C (p.Val1035Leu)
c.2938G>C (p.Val980Leu)
c.3100G>C (p.Val1034Leu)
1g.16986895C>TCA636589ATP13A2c.3145G>A (p.Val1049Met)
c.3013G>A (p.Val1005Met)
c.3130G>A (p.Val1044Met)
n.1019G>A
c.733G>A (p.Val245Met)
c.3142G>A (p.Val1048Met)
c.3118G>A (p.Val1040Met)
c.3085G>A (p.Val1029Met)
c.3028G>A (p.Val1010Met)
c.3127G>A (p.Val1043Met)
c.3103G>A (p.Val1035Met)
c.2938G>A (p.Val980Met)
c.3100G>A (p.Val1034Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986896G>ACA416093735ATP13A2c.3144C>T (p.Thr1048=)
c.3012C>T (p.Thr1004=)
c.3129C>T (p.Thr1043=)
n.1018C>T
c.732C>T (p.Thr244=)
c.3141C>T (p.Thr1047=)
c.3117C>T (p.Thr1039=)
c.3084C>T (p.Thr1028=)
c.3027C>T (p.Thr1009=)
c.3126C>T (p.Thr1042=)
c.3102C>T (p.Thr1034=)
c.2937C>T (p.Thr979=)
c.3099C>T (p.Thr1033=)
 ClinVar dbSNP gnomAD v4
1g.16986896G>CCA151957ATP13A2c.3144C>G (p.Thr1048=)
c.3012C>G (p.Thr1004=)
c.3129C>G (p.Thr1043=)
n.1018C>G
c.732C>G (p.Thr244=)
c.3141C>G (p.Thr1047=)
c.3117C>G (p.Thr1039=)
c.3084C>G (p.Thr1028=)
c.3027C>G (p.Thr1009=)
c.3126C>G (p.Thr1042=)
c.3102C>G (p.Thr1034=)
c.2937C>G (p.Thr979=)
c.3099C>G (p.Thr1033=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986896G=CA1140633704ATP13A2c.3144C= (p.Thr1048=)
c.3012C= (p.Thr1004=)
c.3129C= (p.Thr1043=)
n.1018C=
c.732C= (p.Thr244=)
c.3141C= (p.Thr1047=)
c.3117C= (p.Thr1039=)
c.3084C= (p.Thr1028=)
c.3027C= (p.Thr1009=)
c.3126C= (p.Thr1042=)
c.3102C= (p.Thr1034=)
c.2937C= (p.Thr979=)
c.3099C= (p.Thr1033=)
1g.16986896G>TCA416093736ATP13A2c.3144C>A (p.Thr1048=)
c.3012C>A (p.Thr1004=)
c.3129C>A (p.Thr1043=)
n.1018C>A
c.732C>A (p.Thr244=)
c.3141C>A (p.Thr1047=)
c.3117C>A (p.Thr1039=)
c.3084C>A (p.Thr1028=)
c.3027C>A (p.Thr1009=)
c.3126C>A (p.Thr1042=)
c.3102C>A (p.Thr1034=)
c.2937C>A (p.Thr979=)
c.3099C>A (p.Thr1033=)
 dbSNP gnomAD v4
1g.16986897G>ACA338233654ATP13A2c.3143C>T (p.Thr1048Ile)
c.3011C>T (p.Thr1004Ile)
c.3128C>T (p.Thr1043Ile)
n.1017C>T
c.731C>T (p.Thr244Ile)
c.3140C>T (p.Thr1047Ile)
c.3116C>T (p.Thr1039Ile)
c.3083C>T (p.Thr1028Ile)
c.3026C>T (p.Thr1009Ile)
c.3125C>T (p.Thr1042Ile)
c.3101C>T (p.Thr1034Ile)
c.2936C>T (p.Thr979Ile)
c.3098C>T (p.Thr1033Ile)
1g.16986897G>CCA338233655ATP13A2c.3143C>G (p.Thr1048Ser)
c.3011C>G (p.Thr1004Ser)
c.3128C>G (p.Thr1043Ser)
n.1017C>G
c.731C>G (p.Thr244Ser)
c.3140C>G (p.Thr1047Ser)
c.3116C>G (p.Thr1039Ser)
c.3083C>G (p.Thr1028Ser)
c.3026C>G (p.Thr1009Ser)
c.3125C>G (p.Thr1042Ser)
c.3101C>G (p.Thr1034Ser)
c.2936C>G (p.Thr979Ser)
c.3098C>G (p.Thr1033Ser)
1g.16986897G>TCA338233656ATP13A2c.3143C>A (p.Thr1048Asn)
c.3011C>A (p.Thr1004Asn)
c.3128C>A (p.Thr1043Asn)
n.1017C>A
c.731C>A (p.Thr244Asn)
c.3140C>A (p.Thr1047Asn)
c.3116C>A (p.Thr1039Asn)
c.3083C>A (p.Thr1028Asn)
c.3026C>A (p.Thr1009Asn)
c.3125C>A (p.Thr1042Asn)
c.3101C>A (p.Thr1034Asn)
c.2936C>A (p.Thr979Asn)
c.3098C>A (p.Thr1033Asn)
1g.16986898T>ACA338233658ATP13A2c.3142A>T (p.Thr1048Ser)
c.3010A>T (p.Thr1004Ser)
c.3127A>T (p.Thr1043Ser)
n.1016A>T
c.730A>T (p.Thr244Ser)
c.3139A>T (p.Thr1047Ser)
c.3115A>T (p.Thr1039Ser)
c.3082A>T (p.Thr1028Ser)
c.3025A>T (p.Thr1009Ser)
c.3124A>T (p.Thr1042Ser)
c.3100A>T (p.Thr1034Ser)
c.2935A>T (p.Thr979Ser)
c.3097A>T (p.Thr1033Ser)
1g.16986898T>CCA338233659ATP13A2c.3142A>G (p.Thr1048Ala)
c.3010A>G (p.Thr1004Ala)
c.3127A>G (p.Thr1043Ala)
n.1016A>G
c.730A>G (p.Thr244Ala)
c.3139A>G (p.Thr1047Ala)
c.3115A>G (p.Thr1039Ala)
c.3082A>G (p.Thr1028Ala)
c.3025A>G (p.Thr1009Ala)
c.3124A>G (p.Thr1042Ala)
c.3100A>G (p.Thr1034Ala)
c.2935A>G (p.Thr979Ala)
c.3097A>G (p.Thr1033Ala)
1g.16986898T>GCA338233657ATP13A2c.3142A>C (p.Thr1048Pro)
c.3010A>C (p.Thr1004Pro)
c.3127A>C (p.Thr1043Pro)
n.1016A>C
c.730A>C (p.Thr244Pro)
c.3139A>C (p.Thr1047Pro)
c.3115A>C (p.Thr1039Pro)
c.3082A>C (p.Thr1028Pro)
c.3025A>C (p.Thr1009Pro)
c.3124A>C (p.Thr1042Pro)
c.3100A>C (p.Thr1034Pro)
c.2935A>C (p.Thr979Pro)
c.3097A>C (p.Thr1033Pro)
1g.16986899G>ACA416093743ATP13A2c.3141C>T (p.Asn1047=)
c.3009C>T (p.Asn1003=)
c.3126C>T (p.Asn1042=)
n.1015C>T
c.729C>T (p.Asn243=)
c.3138C>T (p.Asn1046=)
c.3114C>T (p.Asn1038=)
c.3081C>T (p.Asn1027=)
c.3024C>T (p.Asn1008=)
c.3123C>T (p.Asn1041=)
c.3099C>T (p.Asn1033=)
c.2934C>T (p.Asn978=)
c.3096C>T (p.Asn1032=)
 dbSNP
1g.16986899G>CCA338233662ATP13A2c.3141C>G (p.Asn1047Lys)
c.3009C>G (p.Asn1003Lys)
c.3126C>G (p.Asn1042Lys)
n.1015C>G
c.729C>G (p.Asn243Lys)
c.3138C>G (p.Asn1046Lys)
c.3114C>G (p.Asn1038Lys)
c.3081C>G (p.Asn1027Lys)
c.3024C>G (p.Asn1008Lys)
c.3123C>G (p.Asn1041Lys)
c.3099C>G (p.Asn1033Lys)
c.2934C>G (p.Asn978Lys)
c.3096C>G (p.Asn1032Lys)
1g.16986899G=CA1156050524ATP13A2c.3141C= (p.Asn1047=)
c.3009C= (p.Asn1003=)
c.3126C= (p.Asn1042=)
n.1015C=
c.729C= (p.Asn243=)
c.3138C= (p.Asn1046=)
c.3114C= (p.Asn1038=)
c.3081C= (p.Asn1027=)
c.3024C= (p.Asn1008=)
c.3123C= (p.Asn1041=)
c.3099C= (p.Asn1033=)
c.2934C= (p.Asn978=)
c.3096C= (p.Asn1032=)
1g.16986899G>TCA338233671ATP13A2c.3141C>A (p.Asn1047Lys)
c.3009C>A (p.Asn1003Lys)
c.3126C>A (p.Asn1042Lys)
n.1015C>A
c.729C>A (p.Asn243Lys)
c.3138C>A (p.Asn1046Lys)
c.3114C>A (p.Asn1038Lys)
c.3081C>A (p.Asn1027Lys)
c.3024C>A (p.Asn1008Lys)
c.3123C>A (p.Asn1041Lys)
c.3099C>A (p.Asn1033Lys)
c.2934C>A (p.Asn978Lys)
c.3096C>A (p.Asn1032Lys)
1g.16986900T>ACA338233674ATP13A2c.3140A>T (p.Asn1047Ile)
c.3008A>T (p.Asn1003Ile)
c.3125A>T (p.Asn1042Ile)
n.1014A>T
c.728A>T (p.Asn243Ile)
c.3137A>T (p.Asn1046Ile)
c.3113A>T (p.Asn1038Ile)
c.3080A>T (p.Asn1027Ile)
c.3023A>T (p.Asn1008Ile)
c.3122A>T (p.Asn1041Ile)
c.3098A>T (p.Asn1033Ile)
c.2933A>T (p.Asn978Ile)
c.3095A>T (p.Asn1032Ile)
1g.16986900T>CCA338233677ATP13A2c.3140A>G (p.Asn1047Ser)
c.3008A>G (p.Asn1003Ser)
c.3125A>G (p.Asn1042Ser)
n.1014A>G
c.728A>G (p.Asn243Ser)
c.3137A>G (p.Asn1046Ser)
c.3113A>G (p.Asn1038Ser)
c.3080A>G (p.Asn1027Ser)
c.3023A>G (p.Asn1008Ser)
c.3122A>G (p.Asn1041Ser)
c.3098A>G (p.Asn1033Ser)
c.2933A>G (p.Asn978Ser)
c.3095A>G (p.Asn1032Ser)
1g.16986900T>GCA338233678ATP13A2c.3140A>C (p.Asn1047Thr)
c.3008A>C (p.Asn1003Thr)
c.3125A>C (p.Asn1042Thr)
n.1014A>C
c.728A>C (p.Asn243Thr)
c.3137A>C (p.Asn1046Thr)
c.3113A>C (p.Asn1038Thr)
c.3080A>C (p.Asn1027Thr)
c.3023A>C (p.Asn1008Thr)
c.3122A>C (p.Asn1041Thr)
c.3098A>C (p.Asn1033Thr)
c.2933A>C (p.Asn978Thr)
c.3095A>C (p.Asn1032Thr)
1g.16986901T>ACA338233681ATP13A2c.3139A>T (p.Asn1047Tyr)
c.3007A>T (p.Asn1003Tyr)
c.3124A>T (p.Asn1042Tyr)
n.1013A>T
c.727A>T (p.Asn243Tyr)
c.3136A>T (p.Asn1046Tyr)
c.3112A>T (p.Asn1038Tyr)
c.3079A>T (p.Asn1027Tyr)
c.3022A>T (p.Asn1008Tyr)
c.3121A>T (p.Asn1041Tyr)
c.3097A>T (p.Asn1033Tyr)
c.2932A>T (p.Asn978Tyr)
c.3094A>T (p.Asn1032Tyr)
1g.16986901T>CCA338233683ATP13A2c.3139A>G (p.Asn1047Asp)
c.3007A>G (p.Asn1003Asp)
c.3124A>G (p.Asn1042Asp)
n.1013A>G
c.727A>G (p.Asn243Asp)
c.3136A>G (p.Asn1046Asp)
c.3112A>G (p.Asn1038Asp)
c.3079A>G (p.Asn1027Asp)
c.3022A>G (p.Asn1008Asp)
c.3121A>G (p.Asn1041Asp)
c.3097A>G (p.Asn1033Asp)
c.2932A>G (p.Asn978Asp)
c.3094A>G (p.Asn1032Asp)
1g.16986901T>GCA338233684ATP13A2c.3139A>C (p.Asn1047His)
c.3007A>C (p.Asn1003His)
c.3124A>C (p.Asn1042His)
n.1013A>C
c.727A>C (p.Asn243His)
c.3136A>C (p.Asn1046His)
c.3112A>C (p.Asn1038His)
c.3079A>C (p.Asn1027His)
c.3022A>C (p.Asn1008His)
c.3121A>C (p.Asn1041His)
c.3097A>C (p.Asn1033His)
c.2932A>C (p.Asn978His)
c.3094A>C (p.Asn1032His)
1g.16986902C>ACA338233685ATP13A2c.3138G>T (p.Glu1046Asp)
c.3006G>T (p.Glu1002Asp)
c.3123G>T (p.Glu1041Asp)
n.1012G>T
c.726G>T (p.Glu242Asp)
c.3135G>T (p.Glu1045Asp)
c.3111G>T (p.Glu1037Asp)
c.3078G>T (p.Glu1026Asp)
c.3021G>T (p.Glu1007Asp)
c.3120G>T (p.Glu1040Asp)
c.3096G>T (p.Glu1032Asp)
c.2931G>T (p.Glu977Asp)
c.3093G>T (p.Glu1031Asp)
1g.16986902C>GCA338233689ATP13A2c.3138G>C (p.Glu1046Asp)
c.3006G>C (p.Glu1002Asp)
c.3123G>C (p.Glu1041Asp)
n.1012G>C
c.726G>C (p.Glu242Asp)
c.3135G>C (p.Glu1045Asp)
c.3111G>C (p.Glu1037Asp)
c.3078G>C (p.Glu1026Asp)
c.3021G>C (p.Glu1007Asp)
c.3120G>C (p.Glu1040Asp)
c.3096G>C (p.Glu1032Asp)
c.2931G>C (p.Glu977Asp)
c.3093G>C (p.Glu1031Asp)
 COSMIC COSMIC
1g.16986902C>TCA416093746ATP13A2c.3138G>A (p.Glu1046=)
c.3006G>A (p.Glu1002=)
c.3123G>A (p.Glu1041=)
n.1012G>A
c.726G>A (p.Glu242=)
c.3135G>A (p.Glu1045=)
c.3111G>A (p.Glu1037=)
c.3078G>A (p.Glu1026=)
c.3021G>A (p.Glu1007=)
c.3120G>A (p.Glu1040=)
c.3096G>A (p.Glu1032=)
c.2931G>A (p.Glu977=)
c.3093G>A (p.Glu1031=)
 gnomAD v4
1g.16986903T>ACA338233691ATP13A2c.3137A>T (p.Glu1046Val)
c.3005A>T (p.Glu1002Val)
c.3122A>T (p.Glu1041Val)
n.1011A>T
c.725A>T (p.Glu242Val)
c.3134A>T (p.Glu1045Val)
c.3110A>T (p.Glu1037Val)
c.3077A>T (p.Glu1026Val)
c.3020A>T (p.Glu1007Val)
c.3119A>T (p.Glu1040Val)
c.3095A>T (p.Glu1032Val)
c.2930A>T (p.Glu977Val)
c.3092A>T (p.Glu1031Val)
1g.16986903T>CCA338233694ATP13A2c.3137A>G (p.Glu1046Gly)
c.3005A>G (p.Glu1002Gly)
c.3122A>G (p.Glu1041Gly)
n.1011A>G
c.725A>G (p.Glu242Gly)
c.3134A>G (p.Glu1045Gly)
c.3110A>G (p.Glu1037Gly)
c.3077A>G (p.Glu1026Gly)
c.3020A>G (p.Glu1007Gly)
c.3119A>G (p.Glu1040Gly)
c.3095A>G (p.Glu1032Gly)
c.2930A>G (p.Glu977Gly)
c.3092A>G (p.Glu1031Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986903T>GCA338233695ATP13A2c.3137A>C (p.Glu1046Ala)
c.3005A>C (p.Glu1002Ala)
c.3122A>C (p.Glu1041Ala)
n.1011A>C
c.725A>C (p.Glu242Ala)
c.3134A>C (p.Glu1045Ala)
c.3110A>C (p.Glu1037Ala)
c.3077A>C (p.Glu1026Ala)
c.3020A>C (p.Glu1007Ala)
c.3119A>C (p.Glu1040Ala)
c.3095A>C (p.Glu1032Ala)
c.2930A>C (p.Glu977Ala)
c.3092A>C (p.Glu1031Ala)
1g.16986903T=CA1156050530ATP13A2c.3137A= (p.Glu1046=)
c.3005A= (p.Glu1002=)
c.3122A= (p.Glu1041=)
n.1011A=
c.725A= (p.Glu242=)
c.3134A= (p.Glu1045=)
c.3110A= (p.Glu1037=)
c.3077A= (p.Glu1026=)
c.3020A= (p.Glu1007=)
c.3119A= (p.Glu1040=)
c.3095A= (p.Glu1032=)
c.2930A= (p.Glu977=)
c.3092A= (p.Glu1031=)
1g.16986904C>ACA338233699ATP13A2c.3136G>T (p.Glu1046Ter)
c.3004G>T (p.Glu1002Ter)
c.3121G>T (p.Glu1041Ter)
n.1010G>T
c.724G>T (p.Glu242Ter)
c.3133G>T (p.Glu1045Ter)
c.3109G>T (p.Glu1037Ter)
c.3076G>T (p.Glu1026Ter)
c.3019G>T (p.Glu1007Ter)
c.3118G>T (p.Glu1040Ter)
c.3094G>T (p.Glu1032Ter)
c.2929G>T (p.Glu977Ter)
c.3091G>T (p.Glu1031Ter)
 ClinVar dbSNP
1g.16986904C=CA1156050534ATP13A2c.3136G= (p.Glu1046=)
c.3004G= (p.Glu1002=)
c.3121G= (p.Glu1041=)
n.1010G=
c.724G= (p.Glu242=)
c.3133G= (p.Glu1045=)
c.3109G= (p.Glu1037=)
c.3076G= (p.Glu1026=)
c.3019G= (p.Glu1007=)
c.3118G= (p.Glu1040=)
c.3094G= (p.Glu1032=)
c.2929G= (p.Glu977=)
c.3091G= (p.Glu1031=)
1g.16986904C>GCA338233707ATP13A2c.3136G>C (p.Glu1046Gln)
c.3004G>C (p.Glu1002Gln)
c.3121G>C (p.Glu1041Gln)
n.1010G>C
c.724G>C (p.Glu242Gln)
c.3133G>C (p.Glu1045Gln)
c.3109G>C (p.Glu1037Gln)
c.3076G>C (p.Glu1026Gln)
c.3019G>C (p.Glu1007Gln)
c.3118G>C (p.Glu1040Gln)
c.3094G>C (p.Glu1032Gln)
c.2929G>C (p.Glu977Gln)
c.3091G>C (p.Glu1031Gln)
1g.16986904C>TCA338233700ATP13A2c.3136G>A (p.Glu1046Lys)
c.3004G>A (p.Glu1002Lys)
c.3121G>A (p.Glu1041Lys)
n.1010G>A
c.724G>A (p.Glu242Lys)
c.3133G>A (p.Glu1045Lys)
c.3109G>A (p.Glu1037Lys)
c.3076G>A (p.Glu1026Lys)
c.3019G>A (p.Glu1007Lys)
c.3118G>A (p.Glu1040Lys)
c.3094G>A (p.Glu1032Lys)
c.2929G>A (p.Glu977Lys)
c.3091G>A (p.Glu1031Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986905delCA2586964000ATP13A2c.3135del (p.Tyr1045Ter)
c.3003del (p.Tyr1001Ter)
c.3120del (p.Tyr1040Ter)
n.1009del
c.723del (p.Tyr241Ter)
c.3132del (p.Tyr1044Ter)
c.3108del (p.Tyr1036Ter)
c.3075del (p.Tyr1025Ter)
c.3018del (p.Tyr1006Ter)
c.3117del (p.Tyr1039Ter)
c.3093del (p.Tyr1031Ter)
c.2928del (p.Tyr976Ter)
c.3090del (p.Tyr1030Ter)
1g.16986905G>ACA18625785ATP13A2c.3135C>T (p.Tyr1045=)
c.3003C>T (p.Tyr1001=)
c.3120C>T (p.Tyr1040=)
n.1009C>T
c.723C>T (p.Tyr241=)
c.3132C>T (p.Tyr1044=)
c.3108C>T (p.Tyr1036=)
c.3075C>T (p.Tyr1025=)
c.3018C>T (p.Tyr1006=)
c.3117C>T (p.Tyr1039=)
c.3093C>T (p.Tyr1031=)
c.2928C>T (p.Tyr976=)
c.3090C>T (p.Tyr1030=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.16986905G>CCA338233719ATP13A2c.3135C>G (p.Tyr1045Ter)
c.3003C>G (p.Tyr1001Ter)
c.3120C>G (p.Tyr1040Ter)
n.1009C>G
c.723C>G (p.Tyr241Ter)
c.3132C>G (p.Tyr1044Ter)
c.3108C>G (p.Tyr1036Ter)
c.3075C>G (p.Tyr1025Ter)
c.3018C>G (p.Tyr1006Ter)
c.3117C>G (p.Tyr1039Ter)
c.3093C>G (p.Tyr1031Ter)
c.2928C>G (p.Tyr976Ter)
c.3090C>G (p.Tyr1030Ter)
1g.16986905G=CA1156050537ATP13A2c.3135C= (p.Tyr1045=)
c.3003C= (p.Tyr1001=)
c.3120C= (p.Tyr1040=)
n.1009C=
c.723C= (p.Tyr241=)
c.3132C= (p.Tyr1044=)
c.3108C= (p.Tyr1036=)
c.3075C= (p.Tyr1025=)
c.3018C= (p.Tyr1006=)
c.3117C= (p.Tyr1039=)
c.3093C= (p.Tyr1031=)
c.2928C= (p.Tyr976=)
c.3090C= (p.Tyr1030=)
1g.16986905G>TCA338233721ATP13A2c.3135C>A (p.Tyr1045Ter)
c.3003C>A (p.Tyr1001Ter)
c.3120C>A (p.Tyr1040Ter)
n.1009C>A
c.723C>A (p.Tyr241Ter)
c.3132C>A (p.Tyr1044Ter)
c.3108C>A (p.Tyr1036Ter)
c.3075C>A (p.Tyr1025Ter)
c.3018C>A (p.Tyr1006Ter)
c.3117C>A (p.Tyr1039Ter)
c.3093C>A (p.Tyr1031Ter)
c.2928C>A (p.Tyr976Ter)
c.3090C>A (p.Tyr1030Ter)
1g.16986906T>ACA338233726ATP13A2c.3134A>T (p.Tyr1045Phe)
c.3002A>T (p.Tyr1001Phe)
c.3119A>T (p.Tyr1040Phe)
n.1008A>T
c.722A>T (p.Tyr241Phe)
c.3131A>T (p.Tyr1044Phe)
c.3107A>T (p.Tyr1036Phe)
c.3074A>T (p.Tyr1025Phe)
c.3017A>T (p.Tyr1006Phe)
c.3116A>T (p.Tyr1039Phe)
c.3092A>T (p.Tyr1031Phe)
c.2927A>T (p.Tyr976Phe)
c.3089A>T (p.Tyr1030Phe)
1g.16986906T>CCA338233729ATP13A2c.3134A>G (p.Tyr1045Cys)
c.3002A>G (p.Tyr1001Cys)
c.3119A>G (p.Tyr1040Cys)
n.1008A>G
c.722A>G (p.Tyr241Cys)
c.3131A>G (p.Tyr1044Cys)
c.3107A>G (p.Tyr1036Cys)
c.3074A>G (p.Tyr1025Cys)
c.3017A>G (p.Tyr1006Cys)
c.3116A>G (p.Tyr1039Cys)
c.3092A>G (p.Tyr1031Cys)
c.2927A>G (p.Tyr976Cys)
c.3089A>G (p.Tyr1030Cys)
 dbSNP
1g.16986906T>GCA338233733ATP13A2c.3134A>C (p.Tyr1045Ser)
c.3002A>C (p.Tyr1001Ser)
c.3119A>C (p.Tyr1040Ser)
n.1008A>C
c.722A>C (p.Tyr241Ser)
c.3131A>C (p.Tyr1044Ser)
c.3107A>C (p.Tyr1036Ser)
c.3074A>C (p.Tyr1025Ser)
c.3017A>C (p.Tyr1006Ser)
c.3116A>C (p.Tyr1039Ser)
c.3092A>C (p.Tyr1031Ser)
c.2927A>C (p.Tyr976Ser)
c.3089A>C (p.Tyr1030Ser)
1g.16986906T=CA1156050546ATP13A2c.3134A= (p.Tyr1045=)
c.3002A= (p.Tyr1001=)
c.3119A= (p.Tyr1040=)
n.1008A=
c.722A= (p.Tyr241=)
c.3131A= (p.Tyr1044=)
c.3107A= (p.Tyr1036=)
c.3074A= (p.Tyr1025=)
c.3017A= (p.Tyr1006=)
c.3116A= (p.Tyr1039=)
c.3092A= (p.Tyr1031=)
c.2927A= (p.Tyr976=)
c.3089A= (p.Tyr1030=)
1g.16986907A>CCA338233735ATP13A2c.3133T>G (p.Tyr1045Asp)
c.3001T>G (p.Tyr1001Asp)
c.3118T>G (p.Tyr1040Asp)
n.1007T>G
c.721T>G (p.Tyr241Asp)
c.3130T>G (p.Tyr1044Asp)
c.3106T>G (p.Tyr1036Asp)
c.3073T>G (p.Tyr1025Asp)
c.3016T>G (p.Tyr1006Asp)
c.3115T>G (p.Tyr1039Asp)
c.3091T>G (p.Tyr1031Asp)
c.2926T>G (p.Tyr976Asp)
c.3088T>G (p.Tyr1030Asp)
1g.16986907A>GCA338233738ATP13A2c.3133T>C (p.Tyr1045His)
c.3001T>C (p.Tyr1001His)
c.3118T>C (p.Tyr1040His)
n.1007T>C
c.721T>C (p.Tyr241His)
c.3130T>C (p.Tyr1044His)
c.3106T>C (p.Tyr1036His)
c.3073T>C (p.Tyr1025His)
c.3016T>C (p.Tyr1006His)
c.3115T>C (p.Tyr1039His)
c.3091T>C (p.Tyr1031His)
c.2926T>C (p.Tyr976His)
c.3088T>C (p.Tyr1030His)
1g.16986907A>TCA338233739ATP13A2c.3133T>A (p.Tyr1045Asn)
c.3001T>A (p.Tyr1001Asn)
c.3118T>A (p.Tyr1040Asn)
n.1007T>A
c.721T>A (p.Tyr241Asn)
c.3130T>A (p.Tyr1044Asn)
c.3106T>A (p.Tyr1036Asn)
c.3073T>A (p.Tyr1025Asn)
c.3016T>A (p.Tyr1006Asn)
c.3115T>A (p.Tyr1039Asn)
c.3091T>A (p.Tyr1031Asn)
c.2926T>A (p.Tyr976Asn)
c.3088T>A (p.Tyr1030Asn)

Number of alleles fetched