Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.194604377dupCA90641417TMEM44c.1091dup (p.Ser365ValfsTer19)
c.1087dup (p.Arg363ProfsTer?)
c.1232dup (p.Ser412ValfsTer19)
c.*387dup (n.*387dup)
c.283dup (p.Arg95ProfsTer?)
c.365dup (p.Ser123ValfsTer19)
c.590dup (p.Ser198ValfsTer19)
n.137dup
n.855dup
c.1241dup (p.Ser415ValfsTer19)
c.1178dup (p.Ser394ValfsTer19)
c.1289dup (p.Ser431ValfsTer19)
c.1157dup (p.Ser387ValfsTer19)
c.1148dup (p.Ser384ValfsTer19)
c.986dup (p.Ser330ValfsTer19)
c.1100dup (p.Ser368ValfsTer19)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.194604377delCA548848421TMEM44c.1091del (p.Pro364ArgfsTer?)
c.1087del (p.Arg363ValfsTer19)
c.1232del (p.Pro411ArgfsTer?)
c.*387del (n.*387del)
c.283del (p.Arg95ValfsTer19)
c.365del (p.Pro122ArgfsTer?)
c.590del (p.Pro197ArgfsTer?)
n.137del
n.855del
c.1241del (p.Pro414ArgfsTer?)
c.1178del (p.Pro393ArgfsTer?)
c.1289del (p.Pro430ArgfsTer?)
c.1157del (p.Pro386ArgfsTer?)
c.1148del (p.Pro383ArgfsTer?)
c.986del (p.Pro329ArgfsTer?)
c.1100del (p.Pro367ArgfsTer?)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
3g.194604376G>ACA355824931TMEM44c.1087C>T (p.Pro363Ser)
c.1083C>T (p.Thr361=)
c.1228C>T (p.Pro410Ser)
c.*383C>T (n.*383C>T)
c.279C>T (p.Thr93=)
c.361C>T (p.Pro121Ser)
c.586C>T (p.Pro196Ser)
n.133C>T
n.851C>T
c.1237C>T (p.Pro413Ser)
c.1174C>T (p.Pro392Ser)
c.1285C>T (p.Pro429Ser)
c.1153C>T (p.Pro385Ser)
c.1144C>T (p.Pro382Ser)
c.982C>T (p.Pro328Ser)
c.1096C>T (p.Pro366Ser)
 gnomAD v4
3g.194604376G>CCA355824933TMEM44c.1087C>G (p.Pro363Ala)
c.1083C>G (p.Thr361=)
c.1228C>G (p.Pro410Ala)
c.*383C>G (n.*383C>G)
c.279C>G (p.Thr93=)
c.361C>G (p.Pro121Ala)
c.586C>G (p.Pro196Ala)
n.133C>G
n.851C>G
c.1237C>G (p.Pro413Ala)
c.1174C>G (p.Pro392Ala)
c.1285C>G (p.Pro429Ala)
c.1153C>G (p.Pro385Ala)
c.1144C>G (p.Pro382Ala)
c.982C>G (p.Pro328Ala)
c.1096C>G (p.Pro366Ala)
 gnomAD v4
3g.194604376G>TCA355824932TMEM44c.1087C>A (p.Pro363Thr)
c.1083C>A (p.Thr361=)
c.1228C>A (p.Pro410Thr)
c.*383C>A (n.*383C>A)
c.279C>A (p.Thr93=)
c.361C>A (p.Pro121Thr)
c.586C>A (p.Pro196Thr)
n.133C>A
n.851C>A
c.1237C>A (p.Pro413Thr)
c.1174C>A (p.Pro392Thr)
c.1285C>A (p.Pro429Thr)
c.1153C>A (p.Pro385Thr)
c.1144C>A (p.Pro382Thr)
c.982C>A (p.Pro328Thr)
c.1096C>A (p.Pro366Thr)
 gnomAD v4
3g.194604377G>ACA355824934TMEM44c.1086C>T (p.Asp362=)
c.1082C>T (p.Thr361Ile)
c.1227C>T (p.Asp409=)
c.*382C>T (n.*382C>T)
c.278C>T (p.Thr93Ile)
c.360C>T (p.Asp120=)
c.585C>T (p.Asp195=)
n.132C>T
n.850C>T
c.1236C>T (p.Asp412=)
c.1173C>T (p.Asp391=)
c.1284C>T (p.Asp428=)
c.1152C>T (p.Asp384=)
c.1143C>T (p.Asp381=)
c.981C>T (p.Asp327=)
c.1095C>T (p.Asp365=)
 dbSNP gnomAD v3 gnomAD v4
3g.194604377G>CCA355824935TMEM44c.1086C>G (p.Asp362Glu)
c.1082C>G (p.Thr361Ser)
c.1227C>G (p.Asp409Glu)
c.*382C>G (n.*382C>G)
c.278C>G (p.Thr93Ser)
c.360C>G (p.Asp120Glu)
c.585C>G (p.Asp195Glu)
n.132C>G
n.850C>G
c.1236C>G (p.Asp412Glu)
c.1173C>G (p.Asp391Glu)
c.1284C>G (p.Asp428Glu)
c.1152C>G (p.Asp384Glu)
c.1143C>G (p.Asp381Glu)
c.981C>G (p.Asp327Glu)
c.1095C>G (p.Asp365Glu)
 dbSNP
3g.194604377G=CA1430709314TMEM44c.1086C= (p.Asp362=)
c.1082C= (p.Thr361=)
c.1227C= (p.Asp409=)
c.*382C= (n.*382C=)
c.278C= (p.Thr93=)
c.360C= (p.Asp120=)
c.585C= (p.Asp195=)
n.132C=
n.850C=
c.1236C= (p.Asp412=)
c.1173C= (p.Asp391=)
c.1284C= (p.Asp428=)
c.1152C= (p.Asp384=)
c.1143C= (p.Asp381=)
c.981C= (p.Asp327=)
c.1095C= (p.Asp365=)
3g.194604377G>TCA355824936TMEM44c.1086C>A (p.Asp362Glu)
c.1082C>A (p.Thr361Asn)
c.1227C>A (p.Asp409Glu)
c.*382C>A (n.*382C>A)
c.278C>A (p.Thr93Asn)
c.360C>A (p.Asp120Glu)
c.585C>A (p.Asp195Glu)
n.132C>A
n.850C>A
c.1236C>A (p.Asp412Glu)
c.1173C>A (p.Asp391Glu)
c.1284C>A (p.Asp428Glu)
c.1152C>A (p.Asp384Glu)
c.1143C>A (p.Asp381Glu)
c.981C>A (p.Asp327Glu)
c.1095C>A (p.Asp365Glu)
 dbSNP gnomAD v4
3g.194604378T>ACA355824937TMEM44c.1085A>T (p.Asp362Val)
c.1081A>T (p.Thr361Ser)
c.1226A>T (p.Asp409Val)
c.*381A>T (n.*381A>T)
c.277A>T (p.Thr93Ser)
c.359A>T (p.Asp120Val)
c.584A>T (p.Asp195Val)
n.131A>T
n.849A>T
c.1235A>T (p.Asp412Val)
c.1172A>T (p.Asp391Val)
c.1283A>T (p.Asp428Val)
c.1151A>T (p.Asp384Val)
c.1142A>T (p.Asp381Val)
c.980A>T (p.Asp327Val)
c.1094A>T (p.Asp365Val)
3g.194604378T>CCA355824938TMEM44c.1085A>G (p.Asp362Gly)
c.1081A>G (p.Thr361Ala)
c.1226A>G (p.Asp409Gly)
c.*381A>G (n.*381A>G)
c.277A>G (p.Thr93Ala)
c.359A>G (p.Asp120Gly)
c.584A>G (p.Asp195Gly)
n.131A>G
n.849A>G
c.1235A>G (p.Asp412Gly)
c.1172A>G (p.Asp391Gly)
c.1283A>G (p.Asp428Gly)
c.1151A>G (p.Asp384Gly)
c.1142A>G (p.Asp381Gly)
c.980A>G (p.Asp327Gly)
c.1094A>G (p.Asp365Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.194604378T>GCA355824939TMEM44c.1085A>C (p.Asp362Ala)
c.1081A>C (p.Thr361Pro)
c.1226A>C (p.Asp409Ala)
c.*381A>C (n.*381A>C)
c.277A>C (p.Thr93Pro)
c.359A>C (p.Asp120Ala)
c.584A>C (p.Asp195Ala)
n.131A>C
n.849A>C
c.1235A>C (p.Asp412Ala)
c.1172A>C (p.Asp391Ala)
c.1283A>C (p.Asp428Ala)
c.1151A>C (p.Asp384Ala)
c.1142A>C (p.Asp381Ala)
c.980A>C (p.Asp327Ala)
c.1094A>C (p.Asp365Ala)
 dbSNP gnomAD v4
3g.194604378T=CA1430709318TMEM44c.1085A= (p.Asp362=)
c.1081A= (p.Thr361=)
c.1226A= (p.Asp409=)
c.*381A= (n.*381A=)
c.277A= (p.Thr93=)
c.359A= (p.Asp120=)
c.584A= (p.Asp195=)
n.131A=
n.849A=
c.1235A= (p.Asp412=)
c.1172A= (p.Asp391=)
c.1283A= (p.Asp428=)
c.1151A= (p.Asp384=)
c.1142A= (p.Asp381=)
c.980A= (p.Asp327=)
c.1094A= (p.Asp365=)
3g.194604378_194604379delinsTCCA1430709319TMEM44c.1084_1085delinsGA (p.Asp362=)
c.1080_1081delinsGA (p.Arg360=)
c.1225_1226delinsGA (p.Asp409=)
c.*380_*381delinsGA (n.*380_*381delinsGA)
c.276_277delinsGA (p.Arg92=)
c.358_359delinsGA (p.Asp120=)
c.583_584delinsGA (p.Asp195=)
n.130_131delinsGA
n.848_849delinsGA
c.1234_1235delinsGA (p.Asp412=)
c.1171_1172delinsGA (p.Asp391=)
c.1282_1283delinsGA (p.Asp428=)
c.1150_1151delinsGA (p.Asp384=)
c.1141_1142delinsGA (p.Asp381=)
c.979_980delinsGA (p.Asp327=)
c.1093_1094delinsGA (p.Asp365=)
3g.194604379C>ACA355824940TMEM44c.1084G>T (p.Asp362Tyr)
c.1080G>T (p.Arg360Ser)
c.1225G>T (p.Asp409Tyr)
c.*380G>T (n.*380G>T)
c.276G>T (p.Arg92Ser)
c.358G>T (p.Asp120Tyr)
c.583G>T (p.Asp195Tyr)
n.130G>T
n.848G>T
c.1234G>T (p.Asp412Tyr)
c.1171G>T (p.Asp391Tyr)
c.1282G>T (p.Asp428Tyr)
c.1150G>T (p.Asp384Tyr)
c.1141G>T (p.Asp381Tyr)
c.979G>T (p.Asp327Tyr)
c.1093G>T (p.Asp365Tyr)
 gnomAD v4
3g.194604379C>GCA355824941TMEM44c.1084G>C (p.Asp362His)
c.1080G>C (p.Arg360Ser)
c.1225G>C (p.Asp409His)
c.*380G>C (n.*380G>C)
c.276G>C (p.Arg92Ser)
c.358G>C (p.Asp120His)
c.583G>C (p.Asp195His)
n.130G>C
n.848G>C
c.1234G>C (p.Asp412His)
c.1171G>C (p.Asp391His)
c.1282G>C (p.Asp428His)
c.1150G>C (p.Asp384His)
c.1141G>C (p.Asp381His)
c.979G>C (p.Asp327His)
c.1093G>C (p.Asp365His)
3g.194604379C>TCA355824942TMEM44c.1084G>A (p.Asp362Asn)
c.1080G>A (p.Arg360=)
c.1225G>A (p.Asp409Asn)
c.*380G>A (n.*380G>A)
c.276G>A (p.Arg92=)
c.358G>A (p.Asp120Asn)
c.583G>A (p.Asp195Asn)
n.130G>A
n.848G>A
c.1234G>A (p.Asp412Asn)
c.1171G>A (p.Asp391Asn)
c.1282G>A (p.Asp428Asn)
c.1150G>A (p.Asp384Asn)
c.1141G>A (p.Asp381Asn)
c.979G>A (p.Asp327Asn)
c.1093G>A (p.Asp365Asn)
 gnomAD v4
3g.194604380delCA904632920TMEM44c.1084del (p.Asp362ThrfsTer?)
c.1080del (p.Thr361ProfsTer21)
c.1225del (p.Asp409ThrfsTer?)
c.*380del (n.*380del)
c.276del (p.Thr93ProfsTer21)
c.358del (p.Asp120ThrfsTer?)
c.583del (p.Asp195ThrfsTer?)
n.130del
n.848del
c.1234del (p.Asp412ThrfsTer?)
c.1171del (p.Asp391ThrfsTer?)
c.1282del (p.Asp428ThrfsTer?)
c.1150del (p.Asp384ThrfsTer?)
c.1141del (p.Asp381ThrfsTer?)
c.979del (p.Asp327ThrfsTer?)
c.1093del (p.Asp365ThrfsTer?)
 dbSNP gnomAD v3 gnomAD v4
3g.194604380C>ACA355824943TMEM44c.1083G>T (p.Gln361His)
c.1079G>T (p.Arg360Met)
c.1224G>T (p.Gln408His)
c.*379G>T (n.*379G>T)
c.275G>T (p.Arg92Met)
c.357G>T (p.Gln119His)
c.582G>T (p.Gln194His)
n.129G>T
n.847G>T
c.1233G>T (p.Gln411His)
c.1170G>T (p.Gln390His)
c.1281G>T (p.Gln427His)
c.1149G>T (p.Gln383His)
c.1140G>T (p.Gln380His)
c.978G>T (p.Gln326His)
c.1092G>T (p.Gln364His)
 gnomAD v4
3g.194604380C>GCA355824944TMEM44c.1083G>C (p.Gln361His)
c.1079G>C (p.Arg360Thr)
c.1224G>C (p.Gln408His)
c.*379G>C (n.*379G>C)
c.275G>C (p.Arg92Thr)
c.357G>C (p.Gln119His)
c.582G>C (p.Gln194His)
n.129G>C
n.847G>C
c.1233G>C (p.Gln411His)
c.1170G>C (p.Gln390His)
c.1281G>C (p.Gln427His)
c.1149G>C (p.Gln383His)
c.1140G>C (p.Gln380His)
c.978G>C (p.Gln326His)
c.1092G>C (p.Gln364His)
3g.194604380C>TCA355824945TMEM44c.1083G>A (p.Gln361=)
c.1079G>A (p.Arg360Lys)
c.1224G>A (p.Gln408=)
c.*379G>A (n.*379G>A)
c.275G>A (p.Arg92Lys)
c.357G>A (p.Gln119=)
c.582G>A (p.Gln194=)
n.129G>A
n.847G>A
c.1233G>A (p.Gln411=)
c.1170G>A (p.Gln390=)
c.1281G>A (p.Gln427=)
c.1149G>A (p.Gln383=)
c.1140G>A (p.Gln380=)
c.978G>A (p.Gln326=)
c.1092G>A (p.Gln364=)
3g.194604381T>ACA355824946TMEM44c.1082A>T (p.Gln361Leu)
c.1078A>T (p.Arg360Trp)
c.1223A>T (p.Gln408Leu)
c.*378A>T (n.*378A>T)
c.274A>T (p.Arg92Trp)
c.356A>T (p.Gln119Leu)
c.581A>T (p.Gln194Leu)
n.128A>T
n.846A>T
c.1232A>T (p.Gln411Leu)
c.1169A>T (p.Gln390Leu)
c.1280A>T (p.Gln427Leu)
c.1148A>T (p.Gln383Leu)
c.1139A>T (p.Gln380Leu)
c.977A>T (p.Gln326Leu)
c.1091A>T (p.Gln364Leu)
 gnomAD v4
3g.194604381T>CCA355824948TMEM44c.1082A>G (p.Gln361Arg)
c.1078A>G (p.Arg360Gly)
c.1223A>G (p.Gln408Arg)
c.*378A>G (n.*378A>G)
c.274A>G (p.Arg92Gly)
c.356A>G (p.Gln119Arg)
c.581A>G (p.Gln194Arg)
n.128A>G
n.846A>G
c.1232A>G (p.Gln411Arg)
c.1169A>G (p.Gln390Arg)
c.1280A>G (p.Gln427Arg)
c.1148A>G (p.Gln383Arg)
c.1139A>G (p.Gln380Arg)
c.977A>G (p.Gln326Arg)
c.1091A>G (p.Gln364Arg)
 dbSNP gnomAD v4
3g.194604381T>GCA355824947TMEM44c.1082A>C (p.Gln361Pro)
c.1078A>C (p.Arg360=)
c.1223A>C (p.Gln408Pro)
c.*378A>C (n.*378A>C)
c.274A>C (p.Arg92=)
c.356A>C (p.Gln119Pro)
c.581A>C (p.Gln194Pro)
n.128A>C
n.846A>C
c.1232A>C (p.Gln411Pro)
c.1169A>C (p.Gln390Pro)
c.1280A>C (p.Gln427Pro)
c.1148A>C (p.Gln383Pro)
c.1139A>C (p.Gln380Pro)
c.977A>C (p.Gln326Pro)
c.1091A>C (p.Gln364Pro)
3g.194604382G>ACA355824949TMEM44c.1081C>T (p.Gln361Ter)
c.1077C>T (p.Cys359=)
c.1222C>T (p.Gln408Ter)
c.*377C>T (n.*377C>T)
c.273C>T (p.Cys91=)
c.355C>T (p.Gln119Ter)
c.580C>T (p.Gln194Ter)
n.127C>T
n.845C>T
c.1231C>T (p.Gln411Ter)
c.1168C>T (p.Gln390Ter)
c.1279C>T (p.Gln427Ter)
c.1147C>T (p.Gln383Ter)
c.1138C>T (p.Gln380Ter)
c.976C>T (p.Gln326Ter)
c.1090C>T (p.Gln364Ter)
 gnomAD v4
3g.194604382G>CCA355824950TMEM44c.1081C>G (p.Gln361Glu)
c.1077C>G (p.Cys359Trp)
c.1222C>G (p.Gln408Glu)
c.*377C>G (n.*377C>G)
c.273C>G (p.Cys91Trp)
c.355C>G (p.Gln119Glu)
c.580C>G (p.Gln194Glu)
n.127C>G
n.845C>G
c.1231C>G (p.Gln411Glu)
c.1168C>G (p.Gln390Glu)
c.1279C>G (p.Gln427Glu)
c.1147C>G (p.Gln383Glu)
c.1138C>G (p.Gln380Glu)
c.976C>G (p.Gln326Glu)
c.1090C>G (p.Gln364Glu)
3g.194604382G>TCA355824951TMEM44c.1081C>A (p.Gln361Lys)
c.1077C>A (p.Cys359Ter)
c.1222C>A (p.Gln408Lys)
c.*377C>A (n.*377C>A)
c.273C>A (p.Cys91Ter)
c.355C>A (p.Gln119Lys)
c.580C>A (p.Gln194Lys)
n.127C>A
n.845C>A
c.1231C>A (p.Gln411Lys)
c.1168C>A (p.Gln390Lys)
c.1279C>A (p.Gln427Lys)
c.1147C>A (p.Gln383Lys)
c.1138C>A (p.Gln380Lys)
c.976C>A (p.Gln326Lys)
c.1090C>A (p.Gln364Lys)
 gnomAD v4
3g.194604383C>ACA355824952TMEM44c.1080G>T (p.Leu360=)
c.1076G>T (p.Cys359Phe)
c.1221G>T (p.Leu407=)
c.*376G>T (n.*376G>T)
c.272G>T (p.Cys91Phe)
c.354G>T (p.Leu118=)
c.579G>T (p.Leu193=)
n.126G>T
n.844G>T
c.1230G>T (p.Leu410=)
c.1167G>T (p.Leu389=)
c.1278G>T (p.Leu426=)
c.1146G>T (p.Leu382=)
c.1137G>T (p.Leu379=)
c.975G>T (p.Leu325=)
c.1089G>T (p.Leu363=)
 gnomAD v4
3g.194604383C>GCA355824953TMEM44c.1080G>C (p.Leu360=)
c.1076G>C (p.Cys359Ser)
c.1221G>C (p.Leu407=)
c.*376G>C (n.*376G>C)
c.272G>C (p.Cys91Ser)
c.354G>C (p.Leu118=)
c.579G>C (p.Leu193=)
n.126G>C
n.844G>C
c.1230G>C (p.Leu410=)
c.1167G>C (p.Leu389=)
c.1278G>C (p.Leu426=)
c.1146G>C (p.Leu382=)
c.1137G>C (p.Leu379=)
c.975G>C (p.Leu325=)
c.1089G>C (p.Leu363=)
3g.194604383C>TCA355824954TMEM44c.1080G>A (p.Leu360=)
c.1076G>A (p.Cys359Tyr)
c.1221G>A (p.Leu407=)
c.*376G>A (n.*376G>A)
c.272G>A (p.Cys91Tyr)
c.354G>A (p.Leu118=)
c.579G>A (p.Leu193=)
n.126G>A
n.844G>A
c.1230G>A (p.Leu410=)
c.1167G>A (p.Leu389=)
c.1278G>A (p.Leu426=)
c.1146G>A (p.Leu382=)
c.1137G>A (p.Leu379=)
c.975G>A (p.Leu325=)
c.1089G>A (p.Leu363=)
 gnomAD v4
3g.194604384A=CA1430709327TMEM44c.1079T= (p.Leu360=)
c.1075T= (p.Cys359=)
c.1220T= (p.Leu407=)
c.*375T= (n.*375T=)
c.271T= (p.Cys91=)
c.353T= (p.Leu118=)
c.578T= (p.Leu193=)
n.125T=
n.843T=
c.1229T= (p.Leu410=)
c.1166T= (p.Leu389=)
c.1277T= (p.Leu426=)
c.1145T= (p.Leu382=)
c.1136T= (p.Leu379=)
c.974T= (p.Leu325=)
c.1088T= (p.Leu363=)
3g.194604384A>CCA355824955TMEM44c.1079T>G (p.Leu360Arg)
c.1075T>G (p.Cys359Gly)
c.1220T>G (p.Leu407Arg)
c.*375T>G (n.*375T>G)
c.271T>G (p.Cys91Gly)
c.353T>G (p.Leu118Arg)
c.578T>G (p.Leu193Arg)
n.125T>G
n.843T>G
c.1229T>G (p.Leu410Arg)
c.1166T>G (p.Leu389Arg)
c.1277T>G (p.Leu426Arg)
c.1145T>G (p.Leu382Arg)
c.1136T>G (p.Leu379Arg)
c.974T>G (p.Leu325Arg)
c.1088T>G (p.Leu363Arg)
3g.194604384A>GCA355824956TMEM44c.1079T>C (p.Leu360Pro)
c.1075T>C (p.Cys359Arg)
c.1220T>C (p.Leu407Pro)
c.*375T>C (n.*375T>C)
c.271T>C (p.Cys91Arg)
c.353T>C (p.Leu118Pro)
c.578T>C (p.Leu193Pro)
n.125T>C
n.843T>C
c.1229T>C (p.Leu410Pro)
c.1166T>C (p.Leu389Pro)
c.1277T>C (p.Leu426Pro)
c.1145T>C (p.Leu382Pro)
c.1136T>C (p.Leu379Pro)
c.974T>C (p.Leu325Pro)
c.1088T>C (p.Leu363Pro)
 dbSNP
3g.194604384A>TCA355824957TMEM44c.1079T>A (p.Leu360Gln)
c.1075T>A (p.Cys359Ser)
c.1220T>A (p.Leu407Gln)
c.*375T>A (n.*375T>A)
c.271T>A (p.Cys91Ser)
c.353T>A (p.Leu118Gln)
c.578T>A (p.Leu193Gln)
n.125T>A
n.843T>A
c.1229T>A (p.Leu410Gln)
c.1166T>A (p.Leu389Gln)
c.1277T>A (p.Leu426Gln)
c.1145T>A (p.Leu382Gln)
c.1136T>A (p.Leu379Gln)
c.974T>A (p.Leu325Gln)
c.1088T>A (p.Leu363Gln)
 gnomAD v4
3g.194604385G>ACA437487267TMEM44c.1078C>T (p.Leu360=)
c.1074C>T (p.Pro358=)
c.1219C>T (p.Leu407=)
c.*374C>T (n.*374C>T)
c.270C>T (p.Pro90=)
c.352C>T (p.Leu118=)
c.577C>T (p.Leu193=)
n.124C>T
n.842C>T
c.1228C>T (p.Leu410=)
c.1165C>T (p.Leu389=)
c.1276C>T (p.Leu426=)
c.1144C>T (p.Leu382=)
c.1135C>T (p.Leu379=)
c.973C>T (p.Leu325=)
c.1087C>T (p.Leu363=)
3g.194604385G>CCA355824959TMEM44c.1078C>G (p.Leu360Val)
c.1074C>G (p.Pro358=)
c.1219C>G (p.Leu407Val)
c.*374C>G (n.*374C>G)
c.270C>G (p.Pro90=)
c.352C>G (p.Leu118Val)
c.577C>G (p.Leu193Val)
n.124C>G
n.842C>G
c.1228C>G (p.Leu410Val)
c.1165C>G (p.Leu389Val)
c.1276C>G (p.Leu426Val)
c.1144C>G (p.Leu382Val)
c.1135C>G (p.Leu379Val)
c.973C>G (p.Leu325Val)
c.1087C>G (p.Leu363Val)
3g.194604385G>TCA355824958TMEM44c.1078C>A (p.Leu360Met)
c.1074C>A (p.Pro358=)
c.1219C>A (p.Leu407Met)
c.*374C>A (n.*374C>A)
c.270C>A (p.Pro90=)
c.352C>A (p.Leu118Met)
c.577C>A (p.Leu193Met)
n.124C>A
n.842C>A
c.1228C>A (p.Leu410Met)
c.1165C>A (p.Leu389Met)
c.1276C>A (p.Leu426Met)
c.1144C>A (p.Leu382Met)
c.1135C>A (p.Leu379Met)
c.973C>A (p.Leu325Met)
c.1087C>A (p.Leu363Met)
3g.194604386G>ACA355824960TMEM44c.1077C>T (p.Ser359=)
c.1073C>T (p.Pro358Leu)
c.1218C>T (p.Ser406=)
c.*373C>T (n.*373C>T)
c.269C>T (p.Pro90Leu)
c.351C>T (p.Ser117=)
c.576C>T (p.Ser192=)
n.123C>T
n.841C>T
c.1227C>T (p.Ser409=)
c.1164C>T (p.Ser388=)
c.1275C>T (p.Ser425=)
c.1143C>T (p.Ser381=)
c.1134C>T (p.Ser378=)
c.972C>T (p.Ser324=)
c.1086C>T (p.Ser362=)
 gnomAD v4
3g.194604386G>CCA355824961TMEM44c.1077C>G (p.Ser359=)
c.1073C>G (p.Pro358Arg)
c.1218C>G (p.Ser406=)
c.*373C>G (n.*373C>G)
c.269C>G (p.Pro90Arg)
c.351C>G (p.Ser117=)
c.576C>G (p.Ser192=)
n.123C>G
n.841C>G
c.1227C>G (p.Ser409=)
c.1164C>G (p.Ser388=)
c.1275C>G (p.Ser425=)
c.1143C>G (p.Ser381=)
c.1134C>G (p.Ser378=)
c.972C>G (p.Ser324=)
c.1086C>G (p.Ser362=)
3g.194604386G=CA1430709330TMEM44c.1077C= (p.Ser359=)
c.1073C= (p.Pro358=)
c.1218C= (p.Ser406=)
c.*373C= (n.*373C=)
c.269C= (p.Pro90=)
c.351C= (p.Ser117=)
c.576C= (p.Ser192=)
n.123C=
n.841C=
c.1227C= (p.Ser409=)
c.1164C= (p.Ser388=)
c.1275C= (p.Ser425=)
c.1143C= (p.Ser381=)
c.1134C= (p.Ser378=)
c.972C= (p.Ser324=)
c.1086C= (p.Ser362=)
3g.194604386G>TCA355824962TMEM44c.1077C>A (p.Ser359=)
c.1073C>A (p.Pro358His)
c.1218C>A (p.Ser406=)
c.*373C>A (n.*373C>A)
c.269C>A (p.Pro90His)
c.351C>A (p.Ser117=)
c.576C>A (p.Ser192=)
n.123C>A
n.841C>A
c.1227C>A (p.Ser409=)
c.1164C>A (p.Ser388=)
c.1275C>A (p.Ser425=)
c.1143C>A (p.Ser381=)
c.1134C>A (p.Ser378=)
c.972C>A (p.Ser324=)
c.1086C>A (p.Ser362=)
3g.194604387G>ACA355824963TMEM44c.1076C>T (p.Ser359Phe)
c.1072C>T (p.Pro358Ser)
c.1217C>T (p.Ser406Phe)
c.*372C>T (n.*372C>T)
c.268C>T (p.Pro90Ser)
c.350C>T (p.Ser117Phe)
c.575C>T (p.Ser192Phe)
n.122C>T
n.840C>T
c.1226C>T (p.Ser409Phe)
c.1163C>T (p.Ser388Phe)
c.1274C>T (p.Ser425Phe)
c.1142C>T (p.Ser381Phe)
c.1133C>T (p.Ser378Phe)
c.971C>T (p.Ser324Phe)
c.1085C>T (p.Ser362Phe)
 gnomAD v4 COSMIC COSMIC
3g.194604387G>CCA355824964TMEM44c.1076C>G (p.Ser359Cys)
c.1072C>G (p.Pro358Ala)
c.1217C>G (p.Ser406Cys)
c.*372C>G (n.*372C>G)
c.268C>G (p.Pro90Ala)
c.350C>G (p.Ser117Cys)
c.575C>G (p.Ser192Cys)
n.122C>G
n.840C>G
c.1226C>G (p.Ser409Cys)
c.1163C>G (p.Ser388Cys)
c.1274C>G (p.Ser425Cys)
c.1142C>G (p.Ser381Cys)
c.1133C>G (p.Ser378Cys)
c.971C>G (p.Ser324Cys)
c.1085C>G (p.Ser362Cys)
3g.194604387G>TCA355824965TMEM44c.1076C>A (p.Ser359Tyr)
c.1072C>A (p.Pro358Thr)
c.1217C>A (p.Ser406Tyr)
c.*372C>A (n.*372C>A)
c.268C>A (p.Pro90Thr)
c.350C>A (p.Ser117Tyr)
c.575C>A (p.Ser192Tyr)
n.122C>A
n.840C>A
c.1226C>A (p.Ser409Tyr)
c.1163C>A (p.Ser388Tyr)
c.1274C>A (p.Ser425Tyr)
c.1142C>A (p.Ser381Tyr)
c.1133C>A (p.Ser378Tyr)
c.971C>A (p.Ser324Tyr)
c.1085C>A (p.Ser362Tyr)
3g.194604388_194604390dupCA2762542TMEM44c.1074_1076dup (p.Ser359_Leu360insSer)
c.1070_1072dup (p.Arg357_Pro358insArg)
c.1215_1217dup (p.Ser406_Leu407insSer)
c.*370_*372dup (n.*370_*372dup)
c.266_268dup (p.Arg89_Pro90insArg)
c.348_350dup (p.Ser117_Leu118insSer)
c.573_575dup (p.Ser192_Leu193insSer)
n.120_122dup
n.838_840dup
c.1224_1226dup (p.Ser409_Leu410insSer)
c.1161_1163dup (p.Ser388_Leu389insSer)
c.1272_1274dup (p.Ser425_Leu426insSer)
c.1140_1142dup (p.Ser381_Leu382insSer)
c.1131_1133dup (p.Ser378_Leu379insSer)
c.969_971dup (p.Ser324_Leu325insSer)
c.1083_1085dup (p.Ser362_Leu363insSer)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.194604388A=CA1430709334TMEM44c.1075T= (p.Ser359=)
c.1071T= (p.Arg357=)
c.1216T= (p.Ser406=)
c.*371T= (n.*371T=)
c.267T= (p.Arg89=)
c.349T= (p.Ser117=)
c.574T= (p.Ser192=)
n.121T=
n.839T=
c.1225T= (p.Ser409=)
c.1162T= (p.Ser388=)
c.1273T= (p.Ser425=)
c.1141T= (p.Ser381=)
c.1132T= (p.Ser378=)
c.970T= (p.Ser324=)
c.1084T= (p.Ser362=)
3g.194604388A>CCA355824966TMEM44c.1075T>G (p.Ser359Ala)
c.1071T>G (p.Arg357=)
c.1216T>G (p.Ser406Ala)
c.*371T>G (n.*371T>G)
c.267T>G (p.Arg89=)
c.349T>G (p.Ser117Ala)
c.574T>G (p.Ser192Ala)
n.121T>G
n.839T>G
c.1225T>G (p.Ser409Ala)
c.1162T>G (p.Ser388Ala)
c.1273T>G (p.Ser425Ala)
c.1141T>G (p.Ser381Ala)
c.1132T>G (p.Ser378Ala)
c.970T>G (p.Ser324Ala)
c.1084T>G (p.Ser362Ala)
3g.194604388A>GCA355824967TMEM44c.1075T>C (p.Ser359Pro)
c.1071T>C (p.Arg357=)
c.1216T>C (p.Ser406Pro)
c.*371T>C (n.*371T>C)
c.267T>C (p.Arg89=)
c.349T>C (p.Ser117Pro)
c.574T>C (p.Ser192Pro)
n.121T>C
n.839T>C
c.1225T>C (p.Ser409Pro)
c.1162T>C (p.Ser388Pro)
c.1273T>C (p.Ser425Pro)
c.1141T>C (p.Ser381Pro)
c.1132T>C (p.Ser378Pro)
c.970T>C (p.Ser324Pro)
c.1084T>C (p.Ser362Pro)
3g.194604388A>TCA2762543TMEM44c.1075T>A (p.Ser359Thr)
c.1071T>A (p.Arg357=)
c.1216T>A (p.Ser406Thr)
c.*371T>A (n.*371T>A)
c.267T>A (p.Arg89=)
c.349T>A (p.Ser117Thr)
c.574T>A (p.Ser192Thr)
n.121T>A
n.839T>A
c.1225T>A (p.Ser409Thr)
c.1162T>A (p.Ser388Thr)
c.1273T>A (p.Ser425Thr)
c.1141T>A (p.Ser381Thr)
c.1132T>A (p.Ser378Thr)
c.970T>A (p.Ser324Thr)
c.1084T>A (p.Ser362Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.194604389C>ACA355824968TMEM44c.1074G>T (p.Ala358=)
c.1070G>T (p.Arg357Leu)
c.1215G>T (p.Ala405=)
c.*370G>T (n.*370G>T)
c.266G>T (p.Arg89Leu)
c.348G>T (p.Ala116=)
c.573G>T (p.Ala191=)
n.120G>T
n.838G>T
c.1224G>T (p.Ala408=)
c.1161G>T (p.Ala387=)
c.1272G>T (p.Ala424=)
c.1140G>T (p.Ala380=)
c.1131G>T (p.Ala377=)
c.969G>T (p.Ala323=)
c.1083G>T (p.Ala361=)
3g.194604389C=CA1430709337TMEM44c.1074G= (p.Ala358=)
c.1070G= (p.Arg357=)
c.1215G= (p.Ala405=)
c.*370G= (n.*370G=)
c.266G= (p.Arg89=)
c.348G= (p.Ala116=)
c.573G= (p.Ala191=)
n.120G=
n.838G=
c.1224G= (p.Ala408=)
c.1161G= (p.Ala387=)
c.1272G= (p.Ala424=)
c.1140G= (p.Ala380=)
c.1131G= (p.Ala377=)
c.969G= (p.Ala323=)
c.1083G= (p.Ala361=)
3g.194604389C>GCA355824969TMEM44c.1074G>C (p.Ala358=)
c.1070G>C (p.Arg357Pro)
c.1215G>C (p.Ala405=)
c.*370G>C (n.*370G>C)
c.266G>C (p.Arg89Pro)
c.348G>C (p.Ala116=)
c.573G>C (p.Ala191=)
n.120G>C
n.838G>C
c.1224G>C (p.Ala408=)
c.1161G>C (p.Ala387=)
c.1272G>C (p.Ala424=)
c.1140G>C (p.Ala380=)
c.1131G>C (p.Ala377=)
c.969G>C (p.Ala323=)
c.1083G>C (p.Ala361=)
3g.194604389C>TCA2762544TMEM44c.1074G>A (p.Ala358=)
c.1070G>A (p.Arg357His)
c.1215G>A (p.Ala405=)
c.*370G>A (n.*370G>A)
c.266G>A (p.Arg89His)
c.348G>A (p.Ala116=)
c.573G>A (p.Ala191=)
n.120G>A
n.838G>A
c.1224G>A (p.Ala408=)
c.1161G>A (p.Ala387=)
c.1272G>A (p.Ala424=)
c.1140G>A (p.Ala380=)
c.1131G>A (p.Ala377=)
c.969G>A (p.Ala323=)
c.1083G>A (p.Ala361=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.194604390G>ACA2762545TMEM44c.1073C>T (p.Ala358Val)
c.1069C>T (p.Arg357Cys)
c.1214C>T (p.Ala405Val)
c.*369C>T (n.*369C>T)
c.265C>T (p.Arg89Cys)
c.347C>T (p.Ala116Val)
c.572C>T (p.Ala191Val)
n.119C>T
n.837C>T
c.1223C>T (p.Ala408Val)
c.1160C>T (p.Ala387Val)
c.1271C>T (p.Ala424Val)
c.1139C>T (p.Ala380Val)
c.1130C>T (p.Ala377Val)
c.968C>T (p.Ala323Val)
c.1082C>T (p.Ala361Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.194604390G>CCA355824970TMEM44c.1073C>G (p.Ala358Gly)
c.1069C>G (p.Arg357Gly)
c.1214C>G (p.Ala405Gly)
c.*369C>G (n.*369C>G)
c.265C>G (p.Arg89Gly)
c.347C>G (p.Ala116Gly)
c.572C>G (p.Ala191Gly)
n.119C>G
n.837C>G
c.1223C>G (p.Ala408Gly)
c.1160C>G (p.Ala387Gly)
c.1271C>G (p.Ala424Gly)
c.1139C>G (p.Ala380Gly)
c.1130C>G (p.Ala377Gly)
c.968C>G (p.Ala323Gly)
c.1082C>G (p.Ala361Gly)
3g.194604390G=CA1430709341TMEM44c.1073C= (p.Ala358=)
c.1069C= (p.Arg357=)
c.1214C= (p.Ala405=)
c.*369C= (n.*369C=)
c.265C= (p.Arg89=)
c.347C= (p.Ala116=)
c.572C= (p.Ala191=)
n.119C=
n.837C=
c.1223C= (p.Ala408=)
c.1160C= (p.Ala387=)
c.1271C= (p.Ala424=)
c.1139C= (p.Ala380=)
c.1130C= (p.Ala377=)
c.968C= (p.Ala323=)
c.1082C= (p.Ala361=)
3g.194604390G>TCA355824971TMEM44c.1073C>A (p.Ala358Glu)
c.1069C>A (p.Arg357Ser)
c.1214C>A (p.Ala405Glu)
c.*369C>A (n.*369C>A)
c.265C>A (p.Arg89Ser)
c.347C>A (p.Ala116Glu)
c.572C>A (p.Ala191Glu)
n.119C>A
n.837C>A
c.1223C>A (p.Ala408Glu)
c.1160C>A (p.Ala387Glu)
c.1271C>A (p.Ala424Glu)
c.1139C>A (p.Ala380Glu)
c.1130C>A (p.Ala377Glu)
c.968C>A (p.Ala323Glu)
c.1082C>A (p.Ala361Glu)
3g.194604391C>ACA355824972TMEM44c.1072G>T (p.Ala358Ser)
c.1068G>T (p.Met356Ile)
c.1213G>T (p.Ala405Ser)
c.*368G>T (n.*368G>T)
c.264G>T (p.Met88Ile)
c.346G>T (p.Ala116Ser)
c.571G>T (p.Ala191Ser)
n.118G>T
n.836G>T
c.1222G>T (p.Ala408Ser)
c.1159G>T (p.Ala387Ser)
c.1270G>T (p.Ala424Ser)
c.1138G>T (p.Ala380Ser)
c.1129G>T (p.Ala377Ser)
c.967G>T (p.Ala323Ser)
c.1081G>T (p.Ala361Ser)
 gnomAD v4
3g.194604391C=CA1430709348TMEM44c.1072G= (p.Ala358=)
c.1068G= (p.Met356=)
c.1213G= (p.Ala405=)
c.*368G= (n.*368G=)
c.264G= (p.Met88=)
c.346G= (p.Ala116=)
c.571G= (p.Ala191=)
n.118G=
n.836G=
c.1222G= (p.Ala408=)
c.1159G= (p.Ala387=)
c.1270G= (p.Ala424=)
c.1138G= (p.Ala380=)
c.1129G= (p.Ala377=)
c.967G= (p.Ala323=)
c.1081G= (p.Ala361=)
3g.194604391C>GCA2762546TMEM44c.1072G>C (p.Ala358Pro)
c.1068G>C (p.Met356Ile)
c.1213G>C (p.Ala405Pro)
c.*368G>C (n.*368G>C)
c.264G>C (p.Met88Ile)
c.346G>C (p.Ala116Pro)
c.571G>C (p.Ala191Pro)
n.118G>C
n.836G>C
c.1222G>C (p.Ala408Pro)
c.1159G>C (p.Ala387Pro)
c.1270G>C (p.Ala424Pro)
c.1138G>C (p.Ala380Pro)
c.1129G>C (p.Ala377Pro)
c.967G>C (p.Ala323Pro)
c.1081G>C (p.Ala361Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.194604391C>TCA355824973TMEM44c.1072G>A (p.Ala358Thr)
c.1068G>A (p.Met356Ile)
c.1213G>A (p.Ala405Thr)
c.*368G>A (n.*368G>A)
c.264G>A (p.Met88Ile)
c.346G>A (p.Ala116Thr)
c.571G>A (p.Ala191Thr)
n.118G>A
n.836G>A
c.1222G>A (p.Ala408Thr)
c.1159G>A (p.Ala387Thr)
c.1270G>A (p.Ala424Thr)
c.1138G>A (p.Ala380Thr)
c.1129G>A (p.Ala377Thr)
c.967G>A (p.Ala323Thr)
c.1081G>A (p.Ala361Thr)
 gnomAD v4
3g.194604392A>CCA355824974TMEM44c.1071T>G (p.Asp357Glu)
c.1067T>G (p.Met356Arg)
c.1212T>G (p.Asp404Glu)
c.*367T>G (n.*367T>G)
c.263T>G (p.Met88Arg)
c.345T>G (p.Asp115Glu)
c.570T>G (p.Asp190Glu)
n.117T>G
n.835T>G
c.1221T>G (p.Asp407Glu)
c.1158T>G (p.Asp386Glu)
c.1269T>G (p.Asp423Glu)
c.1137T>G (p.Asp379Glu)
c.1128T>G (p.Asp376Glu)
c.966T>G (p.Asp322Glu)
c.1080T>G (p.Asp360Glu)
3g.194604392A>GCA355824975TMEM44c.1071T>C (p.Asp357=)
c.1067T>C (p.Met356Thr)
c.1212T>C (p.Asp404=)
c.*367T>C (n.*367T>C)
c.263T>C (p.Met88Thr)
c.345T>C (p.Asp115=)
c.570T>C (p.Asp190=)
n.117T>C
n.835T>C
c.1221T>C (p.Asp407=)
c.1158T>C (p.Asp386=)
c.1269T>C (p.Asp423=)
c.1137T>C (p.Asp379=)
c.1128T>C (p.Asp376=)
c.966T>C (p.Asp322=)
c.1080T>C (p.Asp360=)
3g.194604392A>TCA355824976TMEM44c.1071T>A (p.Asp357Glu)
c.1067T>A (p.Met356Lys)
c.1212T>A (p.Asp404Glu)
c.*367T>A (n.*367T>A)
c.263T>A (p.Met88Lys)
c.345T>A (p.Asp115Glu)
c.570T>A (p.Asp190Glu)
n.117T>A
n.835T>A
c.1221T>A (p.Asp407Glu)
c.1158T>A (p.Asp386Glu)
c.1269T>A (p.Asp423Glu)
c.1137T>A (p.Asp379Glu)
c.1128T>A (p.Asp376Glu)
c.966T>A (p.Asp322Glu)
c.1080T>A (p.Asp360Glu)
3g.194604393T>ACA355824977TMEM44c.1070A>T (p.Asp357Val)
c.1066A>T (p.Met356Leu)
c.1211A>T (p.Asp404Val)
c.*366A>T (n.*366A>T)
c.262A>T (p.Met88Leu)
c.344A>T (p.Asp115Val)
c.569A>T (p.Asp190Val)
n.116A>T
n.834A>T
c.1220A>T (p.Asp407Val)
c.1157A>T (p.Asp386Val)
c.1268A>T (p.Asp423Val)
c.1136A>T (p.Asp379Val)
c.1127A>T (p.Asp376Val)
c.965A>T (p.Asp322Val)
c.1079A>T (p.Asp360Val)
3g.194604393T>CCA2762547TMEM44c.1070A>G (p.Asp357Gly)
c.1066A>G (p.Met356Val)
c.1211A>G (p.Asp404Gly)
c.*366A>G (n.*366A>G)
c.262A>G (p.Met88Val)
c.344A>G (p.Asp115Gly)
c.569A>G (p.Asp190Gly)
n.116A>G
n.834A>G
c.1220A>G (p.Asp407Gly)
c.1157A>G (p.Asp386Gly)
c.1268A>G (p.Asp423Gly)
c.1136A>G (p.Asp379Gly)
c.1127A>G (p.Asp376Gly)
c.965A>G (p.Asp322Gly)
c.1079A>G (p.Asp360Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.194604393T>GCA355824978TMEM44c.1070A>C (p.Asp357Ala)
c.1066A>C (p.Met356Leu)
c.1211A>C (p.Asp404Ala)
c.*366A>C (n.*366A>C)
c.262A>C (p.Met88Leu)
c.344A>C (p.Asp115Ala)
c.569A>C (p.Asp190Ala)
n.116A>C
n.834A>C
c.1220A>C (p.Asp407Ala)
c.1157A>C (p.Asp386Ala)
c.1268A>C (p.Asp423Ala)
c.1136A>C (p.Asp379Ala)
c.1127A>C (p.Asp376Ala)
c.965A>C (p.Asp322Ala)
c.1079A>C (p.Asp360Ala)
3g.194604393T=CA1430709351TMEM44c.1070A= (p.Asp357=)
c.1066A= (p.Met356=)
c.1211A= (p.Asp404=)
c.*366A= (n.*366A=)
c.262A= (p.Met88=)
c.344A= (p.Asp115=)
c.569A= (p.Asp190=)
n.116A=
n.834A=
c.1220A= (p.Asp407=)
c.1157A= (p.Asp386=)
c.1268A= (p.Asp423=)
c.1136A= (p.Asp379=)
c.1127A= (p.Asp376=)
c.965A= (p.Asp322=)
c.1079A= (p.Asp360=)
3g.194604394C>ACA355824979TMEM44c.1069G>T (p.Asp357Tyr)
c.1065G>T (p.Glu355Asp)
c.1210G>T (p.Asp404Tyr)
c.*365G>T (n.*365G>T)
c.261G>T (p.Glu87Asp)
c.343G>T (p.Asp115Tyr)
c.568G>T (p.Asp190Tyr)
n.115G>T
n.833G>T
c.1219G>T (p.Asp407Tyr)
c.1156G>T (p.Asp386Tyr)
c.1267G>T (p.Asp423Tyr)
c.1135G>T (p.Asp379Tyr)
c.1126G>T (p.Asp376Tyr)
c.964G>T (p.Asp322Tyr)
c.1078G>T (p.Asp360Tyr)
 gnomAD v4
3g.194604394C>GCA355824980TMEM44c.1069G>C (p.Asp357His)
c.1065G>C (p.Glu355Asp)
c.1210G>C (p.Asp404His)
c.*365G>C (n.*365G>C)
c.261G>C (p.Glu87Asp)
c.343G>C (p.Asp115His)
c.568G>C (p.Asp190His)
n.115G>C
n.833G>C
c.1219G>C (p.Asp407His)
c.1156G>C (p.Asp386His)
c.1267G>C (p.Asp423His)
c.1135G>C (p.Asp379His)
c.1126G>C (p.Asp376His)
c.964G>C (p.Asp322His)
c.1078G>C (p.Asp360His)
3g.194604394C>TCA355824981TMEM44c.1069G>A (p.Asp357Asn)
c.1065G>A (p.Glu355=)
c.1210G>A (p.Asp404Asn)
c.*365G>A (n.*365G>A)
c.261G>A (p.Glu87=)
c.343G>A (p.Asp115Asn)
c.568G>A (p.Asp190Asn)
n.115G>A
n.833G>A
c.1219G>A (p.Asp407Asn)
c.1156G>A (p.Asp386Asn)
c.1267G>A (p.Asp423Asn)
c.1135G>A (p.Asp379Asn)
c.1126G>A (p.Asp376Asn)
c.964G>A (p.Asp322Asn)
c.1078G>A (p.Asp360Asn)
 gnomAD v4
3g.194604395T>ACA355824983TMEM44c.1068A>T (p.Gly356=)
c.1064A>T (p.Glu355Val)
c.1209A>T (p.Gly403=)
c.*364A>T (n.*364A>T)
c.260A>T (p.Glu87Val)
c.342A>T (p.Gly114=)
c.567A>T (p.Gly189=)
n.114A>T
n.832A>T
c.1218A>T (p.Gly406=)
c.1155A>T (p.Gly385=)
c.1266A>T (p.Gly422=)
c.1134A>T (p.Gly378=)
c.1125A>T (p.Gly375=)
c.963A>T (p.Gly321=)
c.1077A>T (p.Gly359=)
 dbSNP
3g.194604395T>CCA355824984TMEM44c.1068A>G (p.Gly356=)
c.1064A>G (p.Glu355Gly)
c.1209A>G (p.Gly403=)
c.*364A>G (n.*364A>G)
c.260A>G (p.Glu87Gly)
c.342A>G (p.Gly114=)
c.567A>G (p.Gly189=)
n.114A>G
n.832A>G
c.1218A>G (p.Gly406=)
c.1155A>G (p.Gly385=)
c.1266A>G (p.Gly422=)
c.1134A>G (p.Gly378=)
c.1125A>G (p.Gly375=)
c.963A>G (p.Gly321=)
c.1077A>G (p.Gly359=)
3g.194604395T>GCA355824982TMEM44c.1068A>C (p.Gly356=)
c.1064A>C (p.Glu355Ala)
c.1209A>C (p.Gly403=)
c.*364A>C (n.*364A>C)
c.260A>C (p.Glu87Ala)
c.342A>C (p.Gly114=)
c.567A>C (p.Gly189=)
n.114A>C
n.832A>C
c.1218A>C (p.Gly406=)
c.1155A>C (p.Gly385=)
c.1266A>C (p.Gly422=)
c.1134A>C (p.Gly378=)
c.1125A>C (p.Gly375=)
c.963A>C (p.Gly321=)
c.1077A>C (p.Gly359=)
3g.194604395T=CA1430709354TMEM44c.1068A= (p.Gly356=)
c.1064A= (p.Glu355=)
c.1209A= (p.Gly403=)
c.*364A= (n.*364A=)
c.260A= (p.Glu87=)
c.342A= (p.Gly114=)
c.567A= (p.Gly189=)
n.114A=
n.832A=
c.1218A= (p.Gly406=)
c.1155A= (p.Gly385=)
c.1266A= (p.Gly422=)
c.1134A= (p.Gly378=)
c.1125A= (p.Gly375=)
c.963A= (p.Gly321=)
c.1077A= (p.Gly359=)
3g.194604396C>ACA355824987TMEM44c.1067G>T (p.Gly356Val)
c.1063G>T (p.Glu355Ter)
c.1208G>T (p.Gly403Val)
c.*363G>T (n.*363G>T)
c.259G>T (p.Glu87Ter)
c.341G>T (p.Gly114Val)
c.566G>T (p.Gly189Val)
n.113G>T
n.831G>T
c.1217G>T (p.Gly406Val)
c.1154G>T (p.Gly385Val)
c.1265G>T (p.Gly422Val)
c.1133G>T (p.Gly378Val)
c.1124G>T (p.Gly375Val)
c.962G>T (p.Gly321Val)
c.1076G>T (p.Gly359Val)
3g.194604396C=CA1430709357TMEM44c.1067G= (p.Gly356=)
c.1063G= (p.Glu355=)
c.1208G= (p.Gly403=)
c.*363G= (n.*363G=)
c.259G= (p.Glu87=)
c.341G= (p.Gly114=)
c.566G= (p.Gly189=)
n.113G=
n.831G=
c.1217G= (p.Gly406=)
c.1154G= (p.Gly385=)
c.1265G= (p.Gly422=)
c.1133G= (p.Gly378=)
c.1124G= (p.Gly375=)
c.962G= (p.Gly321=)
c.1076G= (p.Gly359=)
3g.194604396C>GCA355824985TMEM44c.1067G>C (p.Gly356Ala)
c.1063G>C (p.Glu355Gln)
c.1208G>C (p.Gly403Ala)
c.*363G>C (n.*363G>C)
c.259G>C (p.Glu87Gln)
c.341G>C (p.Gly114Ala)
c.566G>C (p.Gly189Ala)
n.113G>C
n.831G>C
c.1217G>C (p.Gly406Ala)
c.1154G>C (p.Gly385Ala)
c.1265G>C (p.Gly422Ala)
c.1133G>C (p.Gly378Ala)
c.1124G>C (p.Gly375Ala)
c.962G>C (p.Gly321Ala)
c.1076G>C (p.Gly359Ala)
 dbSNP gnomAD v2 gnomAD v4
3g.194604396C>TCA355824986TMEM44c.1067G>A (p.Gly356Glu)
c.1063G>A (p.Glu355Lys)
c.1208G>A (p.Gly403Glu)
c.*363G>A (n.*363G>A)
c.259G>A (p.Glu87Lys)
c.341G>A (p.Gly114Glu)
c.566G>A (p.Gly189Glu)
n.113G>A
n.831G>A
c.1217G>A (p.Gly406Glu)
c.1154G>A (p.Gly385Glu)
c.1265G>A (p.Gly422Glu)
c.1133G>A (p.Gly378Glu)
c.1124G>A (p.Gly375Glu)
c.962G>A (p.Gly321Glu)
c.1076G>A (p.Gly359Glu)
 gnomAD v4
3g.194604397C>ACA355824988TMEM44c.1066G>T (p.Gly356Ter)
c.1062G>T (p.Pro354=)
c.1207G>T (p.Gly403Ter)
c.*362G>T (n.*362G>T)
c.258G>T (p.Pro86=)
c.340G>T (p.Gly114Ter)
c.565G>T (p.Gly189Ter)
n.112G>T
n.830G>T
c.1216G>T (p.Gly406Ter)
c.1153G>T (p.Gly385Ter)
c.1264G>T (p.Gly422Ter)
c.1132G>T (p.Gly378Ter)
c.1123G>T (p.Gly375Ter)
c.961G>T (p.Gly321Ter)
c.1075G>T (p.Gly359Ter)
 dbSNP gnomAD v4
3g.194604397C=CA1430709359TMEM44c.1066G= (p.Gly356=)
c.1062G= (p.Pro354=)
c.1207G= (p.Gly403=)
c.*362G= (n.*362G=)
c.258G= (p.Pro86=)
c.340G= (p.Gly114=)
c.565G= (p.Gly189=)
n.112G=
n.830G=
c.1216G= (p.Gly406=)
c.1153G= (p.Gly385=)
c.1264G= (p.Gly422=)
c.1132G= (p.Gly378=)
c.1123G= (p.Gly375=)
c.961G= (p.Gly321=)
c.1075G= (p.Gly359=)
3g.194604397C>GCA355824989TMEM44c.1066G>C (p.Gly356Arg)
c.1062G>C (p.Pro354=)
c.1207G>C (p.Gly403Arg)
c.*362G>C (n.*362G>C)
c.258G>C (p.Pro86=)
c.340G>C (p.Gly114Arg)
c.565G>C (p.Gly189Arg)
n.112G>C
n.830G>C
c.1216G>C (p.Gly406Arg)
c.1153G>C (p.Gly385Arg)
c.1264G>C (p.Gly422Arg)
c.1132G>C (p.Gly378Arg)
c.1123G>C (p.Gly375Arg)
c.961G>C (p.Gly321Arg)
c.1075G>C (p.Gly359Arg)
 gnomAD v4
3g.194604397C>TCA2762548TMEM44c.1066G>A (p.Gly356Arg)
c.1062G>A (p.Pro354=)
c.1207G>A (p.Gly403Arg)
c.*362G>A (n.*362G>A)
c.258G>A (p.Pro86=)
c.340G>A (p.Gly114Arg)
c.565G>A (p.Gly189Arg)
n.112G>A
n.830G>A
c.1216G>A (p.Gly406Arg)
c.1153G>A (p.Gly385Arg)
c.1264G>A (p.Gly422Arg)
c.1132G>A (p.Gly378Arg)
c.1123G>A (p.Gly375Arg)
c.961G>A (p.Gly321Arg)
c.1075G>A (p.Gly359Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.194604398G>ACA2762549TMEM44c.1065C>T (p.Ala355=)
c.1061C>T (p.Pro354Leu)
c.1206C>T (p.Ala402=)
c.*361C>T (n.*361C>T)
c.257C>T (p.Pro86Leu)
c.339C>T (p.Ala113=)
c.564C>T (p.Ala188=)
n.111C>T
n.829C>T
c.1215C>T (p.Ala405=)
c.1152C>T (p.Ala384=)
c.1263C>T (p.Ala421=)
c.1131C>T (p.Ala377=)
c.1122C>T (p.Ala374=)
c.960C>T (p.Ala320=)
c.1074C>T (p.Ala358=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.194604398G>CCA355824991TMEM44c.1065C>G (p.Ala355=)
c.1061C>G (p.Pro354Arg)
c.1206C>G (p.Ala402=)
c.*361C>G (n.*361C>G)
c.257C>G (p.Pro86Arg)
c.339C>G (p.Ala113=)
c.564C>G (p.Ala188=)
n.111C>G
n.829C>G
c.1215C>G (p.Ala405=)
c.1152C>G (p.Ala384=)
c.1263C>G (p.Ala421=)
c.1131C>G (p.Ala377=)
c.1122C>G (p.Ala374=)
c.960C>G (p.Ala320=)
c.1074C>G (p.Ala358=)
 dbSNP gnomAD v2 gnomAD v4
3g.194604398G=CA1430709365TMEM44c.1065C= (p.Ala355=)
c.1061C= (p.Pro354=)
c.1206C= (p.Ala402=)
c.*361C= (n.*361C=)
c.257C= (p.Pro86=)
c.339C= (p.Ala113=)
c.564C= (p.Ala188=)
n.111C=
n.829C=
c.1215C= (p.Ala405=)
c.1152C= (p.Ala384=)
c.1263C= (p.Ala421=)
c.1131C= (p.Ala377=)
c.1122C= (p.Ala374=)
c.960C= (p.Ala320=)
c.1074C= (p.Ala358=)
3g.194604398G>TCA355824990TMEM44c.1065C>A (p.Ala355=)
c.1061C>A (p.Pro354Gln)
c.1206C>A (p.Ala402=)
c.*361C>A (n.*361C>A)
c.257C>A (p.Pro86Gln)
c.339C>A (p.Ala113=)
c.564C>A (p.Ala188=)
n.111C>A
n.829C>A
c.1215C>A (p.Ala405=)
c.1152C>A (p.Ala384=)
c.1263C>A (p.Ala421=)
c.1131C>A (p.Ala377=)
c.1122C>A (p.Ala374=)
c.960C>A (p.Ala320=)
c.1074C>A (p.Ala358=)
 gnomAD v4
3g.194604399G>ACA355824992TMEM44c.1064C>T (p.Ala355Val)
c.1060C>T (p.Pro354Ser)
c.1205C>T (p.Ala402Val)
c.*360C>T (n.*360C>T)
c.256C>T (p.Pro86Ser)
c.338C>T (p.Ala113Val)
c.563C>T (p.Ala188Val)
n.110C>T
n.828C>T
c.1214C>T (p.Ala405Val)
c.1151C>T (p.Ala384Val)
c.1262C>T (p.Ala421Val)
c.1130C>T (p.Ala377Val)
c.1121C>T (p.Ala374Val)
c.959C>T (p.Ala320Val)
c.1073C>T (p.Ala358Val)
3g.194604399G>CCA355824993TMEM44c.1064C>G (p.Ala355Gly)
c.1060C>G (p.Pro354Ala)
c.1205C>G (p.Ala402Gly)
c.*360C>G (n.*360C>G)
c.256C>G (p.Pro86Ala)
c.338C>G (p.Ala113Gly)
c.563C>G (p.Ala188Gly)
n.110C>G
n.828C>G
c.1214C>G (p.Ala405Gly)
c.1151C>G (p.Ala384Gly)
c.1262C>G (p.Ala421Gly)
c.1130C>G (p.Ala377Gly)
c.1121C>G (p.Ala374Gly)
c.959C>G (p.Ala320Gly)
c.1073C>G (p.Ala358Gly)
3g.194604399G>TCA355824994TMEM44c.1064C>A (p.Ala355Asp)
c.1060C>A (p.Pro354Thr)
c.1205C>A (p.Ala402Asp)
c.*360C>A (n.*360C>A)
c.256C>A (p.Pro86Thr)
c.338C>A (p.Ala113Asp)
c.563C>A (p.Ala188Asp)
n.110C>A
n.828C>A
c.1214C>A (p.Ala405Asp)
c.1151C>A (p.Ala384Asp)
c.1262C>A (p.Ala421Asp)
c.1130C>A (p.Ala377Asp)
c.1121C>A (p.Ala374Asp)
c.959C>A (p.Ala320Asp)
c.1073C>A (p.Ala358Asp)
3g.194604400C>ACA355824995TMEM44c.1063G>T (p.Ala355Ser)
c.1059G>T (p.Ala353=)
c.1204G>T (p.Ala402Ser)
c.*359G>T (n.*359G>T)
c.255G>T (p.Ala85=)
c.337G>T (p.Ala113Ser)
c.562G>T (p.Ala188Ser)
n.109G>T
n.827G>T
c.1213G>T (p.Ala405Ser)
c.1150G>T (p.Ala384Ser)
c.1261G>T (p.Ala421Ser)
c.1129G>T (p.Ala377Ser)
c.1120G>T (p.Ala374Ser)
c.958G>T (p.Ala320Ser)
c.1072G>T (p.Ala358Ser)
 gnomAD v4
3g.194604400C=CA1430709368TMEM44c.1063G= (p.Ala355=)
c.1059G= (p.Ala353=)
c.1204G= (p.Ala402=)
c.*359G= (n.*359G=)
c.255G= (p.Ala85=)
c.337G= (p.Ala113=)
c.562G= (p.Ala188=)
n.109G=
n.827G=
c.1213G= (p.Ala405=)
c.1150G= (p.Ala384=)
c.1261G= (p.Ala421=)
c.1129G= (p.Ala377=)
c.1120G= (p.Ala374=)
c.958G= (p.Ala320=)
c.1072G= (p.Ala358=)
3g.194604400C>GCA355824996TMEM44c.1063G>C (p.Ala355Pro)
c.1059G>C (p.Ala353=)
c.1204G>C (p.Ala402Pro)
c.*359G>C (n.*359G>C)
c.255G>C (p.Ala85=)
c.337G>C (p.Ala113Pro)
c.562G>C (p.Ala188Pro)
n.109G>C
n.827G>C
c.1213G>C (p.Ala405Pro)
c.1150G>C (p.Ala384Pro)
c.1261G>C (p.Ala421Pro)
c.1129G>C (p.Ala377Pro)
c.1120G>C (p.Ala374Pro)
c.958G>C (p.Ala320Pro)
c.1072G>C (p.Ala358Pro)
 dbSNP gnomAD v4
3g.194604400C>TCA2762550TMEM44c.1063G>A (p.Ala355Thr)
c.1059G>A (p.Ala353=)
c.1204G>A (p.Ala402Thr)
c.*359G>A (n.*359G>A)
c.255G>A (p.Ala85=)
c.337G>A (p.Ala113Thr)
c.562G>A (p.Ala188Thr)
n.109G>A
n.827G>A
c.1213G>A (p.Ala405Thr)
c.1150G>A (p.Ala384Thr)
c.1261G>A (p.Ala421Thr)
c.1129G>A (p.Ala377Thr)
c.1120G>A (p.Ala374Thr)
c.958G>A (p.Ala320Thr)
c.1072G>A (p.Ala358Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.194604401G>ACA90641467TMEM44c.1062C>T (p.Ser354=)
c.1058C>T (p.Ala353Val)
c.1203C>T (p.Ser401=)
c.*358C>T (n.*358C>T)
c.254C>T (p.Ala85Val)
c.336C>T (p.Ser112=)
c.561C>T (p.Ser187=)
n.108C>T
n.826C>T
c.1212C>T (p.Ser404=)
c.1149C>T (p.Ser383=)
c.1260C>T (p.Ser420=)
c.1128C>T (p.Ser376=)
c.1119C>T (p.Ser373=)
c.957C>T (p.Ser319=)
c.1071C>T (p.Ser357=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.194604401G>CCA355824997TMEM44c.1062C>G (p.Ser354Arg)
c.1058C>G (p.Ala353Gly)
c.1203C>G (p.Ser401Arg)
c.*358C>G (n.*358C>G)
c.254C>G (p.Ala85Gly)
c.336C>G (p.Ser112Arg)
c.561C>G (p.Ser187Arg)
n.108C>G
n.826C>G
c.1212C>G (p.Ser404Arg)
c.1149C>G (p.Ser383Arg)
c.1260C>G (p.Ser420Arg)
c.1128C>G (p.Ser376Arg)
c.1119C>G (p.Ser373Arg)
c.957C>G (p.Ser319Arg)
c.1071C>G (p.Ser357Arg)
 gnomAD v4
3g.194604401G=CA1430709372TMEM44c.1062C= (p.Ser354=)
c.1058C= (p.Ala353=)
c.1203C= (p.Ser401=)
c.*358C= (n.*358C=)
c.254C= (p.Ala85=)
c.336C= (p.Ser112=)
c.561C= (p.Ser187=)
n.108C=
n.826C=
c.1212C= (p.Ser404=)
c.1149C= (p.Ser383=)
c.1260C= (p.Ser420=)
c.1128C= (p.Ser376=)
c.1119C= (p.Ser373=)
c.957C= (p.Ser319=)
c.1071C= (p.Ser357=)
3g.194604401G>TCA355824998TMEM44c.1062C>A (p.Ser354Arg)
c.1058C>A (p.Ala353Glu)
c.1203C>A (p.Ser401Arg)
c.*358C>A (n.*358C>A)
c.254C>A (p.Ala85Glu)
c.336C>A (p.Ser112Arg)
c.561C>A (p.Ser187Arg)
n.108C>A
n.826C>A
c.1212C>A (p.Ser404Arg)
c.1149C>A (p.Ser383Arg)
c.1260C>A (p.Ser420Arg)
c.1128C>A (p.Ser376Arg)
c.1119C>A (p.Ser373Arg)
c.957C>A (p.Ser319Arg)
c.1071C>A (p.Ser357Arg)
 gnomAD v4
3g.194604402C>ACA355825000TMEM44c.1061G>T (p.Ser354Ile)
c.1057G>T (p.Ala353Ser)
c.1202G>T (p.Ser401Ile)
c.*357G>T (n.*357G>T)
c.253G>T (p.Ala85Ser)
c.335G>T (p.Ser112Ile)
c.560G>T (p.Ser187Ile)
n.107G>T
n.825G>T
c.1211G>T (p.Ser404Ile)
c.1148G>T (p.Ser383Ile)
c.1259G>T (p.Ser420Ile)
c.1127G>T (p.Ser376Ile)
c.1118G>T (p.Ser373Ile)
c.956G>T (p.Ser319Ile)
c.1070G>T (p.Ser357Ile)
 gnomAD v4
3g.194604402C>GCA355825001TMEM44c.1061G>C (p.Ser354Thr)
c.1057G>C (p.Ala353Pro)
c.1202G>C (p.Ser401Thr)
c.*357G>C (n.*357G>C)
c.253G>C (p.Ala85Pro)
c.335G>C (p.Ser112Thr)
c.560G>C (p.Ser187Thr)
n.107G>C
n.825G>C
c.1211G>C (p.Ser404Thr)
c.1148G>C (p.Ser383Thr)
c.1259G>C (p.Ser420Thr)
c.1127G>C (p.Ser376Thr)
c.1118G>C (p.Ser373Thr)
c.956G>C (p.Ser319Thr)
c.1070G>C (p.Ser357Thr)
3g.194604402C>TCA355825002TMEM44c.1061G>A (p.Ser354Asn)
c.1057G>A (p.Ala353Thr)
c.1202G>A (p.Ser401Asn)
c.*357G>A (n.*357G>A)
c.253G>A (p.Ala85Thr)
c.335G>A (p.Ser112Asn)
c.560G>A (p.Ser187Asn)
n.107G>A
n.825G>A
c.1211G>A (p.Ser404Asn)
c.1148G>A (p.Ser383Asn)
c.1259G>A (p.Ser420Asn)
c.1127G>A (p.Ser376Asn)
c.1118G>A (p.Ser373Asn)
c.956G>A (p.Ser319Asn)
c.1070G>A (p.Ser357Asn)
3g.194604403T>ACA355825003TMEM44c.1060A>T (p.Ser354Cys)
c.1056A>T (p.Arg352=)
c.1201A>T (p.Ser401Cys)
c.*356A>T (n.*356A>T)
c.252A>T (p.Arg84=)
c.334A>T (p.Ser112Cys)
c.559A>T (p.Ser187Cys)
n.106A>T
n.824A>T
c.1210A>T (p.Ser404Cys)
c.1147A>T (p.Ser383Cys)
c.1258A>T (p.Ser420Cys)
c.1126A>T (p.Ser376Cys)
c.1117A>T (p.Ser373Cys)
c.955A>T (p.Ser319Cys)
c.1069A>T (p.Ser357Cys)
3g.194604403T>CCA355825004TMEM44c.1060A>G (p.Ser354Gly)
c.1056A>G (p.Arg352=)
c.1201A>G (p.Ser401Gly)
c.*356A>G (n.*356A>G)
c.252A>G (p.Arg84=)
c.334A>G (p.Ser112Gly)
c.559A>G (p.Ser187Gly)
n.106A>G
n.824A>G
c.1210A>G (p.Ser404Gly)
c.1147A>G (p.Ser383Gly)
c.1258A>G (p.Ser420Gly)
c.1126A>G (p.Ser376Gly)
c.1117A>G (p.Ser373Gly)
c.955A>G (p.Ser319Gly)
c.1069A>G (p.Ser357Gly)
 gnomAD v4
3g.194604403T>GCA355825005TMEM44c.1060A>C (p.Ser354Arg)
c.1056A>C (p.Arg352=)
c.1201A>C (p.Ser401Arg)
c.*356A>C (n.*356A>C)
c.252A>C (p.Arg84=)
c.334A>C (p.Ser112Arg)
c.559A>C (p.Ser187Arg)
n.106A>C
n.824A>C
c.1210A>C (p.Ser404Arg)
c.1147A>C (p.Ser383Arg)
c.1258A>C (p.Ser420Arg)
c.1126A>C (p.Ser376Arg)
c.1117A>C (p.Ser373Arg)
c.955A>C (p.Ser319Arg)
c.1069A>C (p.Ser357Arg)
3g.194604404C>ACA355825006TMEM44c.1059G>T (p.Thr353=)
c.1055G>T (p.Arg352Leu)
c.1200G>T (p.Thr400=)
c.*355G>T (n.*355G>T)
c.251G>T (p.Arg84Leu)
c.333G>T (p.Thr111=)
c.558G>T (p.Thr186=)
n.105G>T
n.823G>T
c.1209G>T (p.Thr403=)
c.1146G>T (p.Thr382=)
c.1257G>T (p.Thr419=)
c.1125G>T (p.Thr375=)
c.1116G>T (p.Thr372=)
c.954G>T (p.Thr318=)
c.1068G>T (p.Thr356=)
 gnomAD v4
3g.194604404C=CA1430709376TMEM44c.1059G= (p.Thr353=)
c.1055G= (p.Arg352=)
c.1200G= (p.Thr400=)
c.*355G= (n.*355G=)
c.251G= (p.Arg84=)
c.333G= (p.Thr111=)
c.558G= (p.Thr186=)
n.105G=
n.823G=
c.1209G= (p.Thr403=)
c.1146G= (p.Thr382=)
c.1257G= (p.Thr419=)
c.1125G= (p.Thr375=)
c.1116G= (p.Thr372=)
c.954G= (p.Thr318=)
c.1068G= (p.Thr356=)
3g.194604404C>GCA355825007TMEM44c.1059G>C (p.Thr353=)
c.1055G>C (p.Arg352Pro)
c.1200G>C (p.Thr400=)
c.*355G>C (n.*355G>C)
c.251G>C (p.Arg84Pro)
c.333G>C (p.Thr111=)
c.558G>C (p.Thr186=)
n.105G>C
n.823G>C
c.1209G>C (p.Thr403=)
c.1146G>C (p.Thr382=)
c.1257G>C (p.Thr419=)
c.1125G>C (p.Thr375=)
c.1116G>C (p.Thr372=)
c.954G>C (p.Thr318=)
c.1068G>C (p.Thr356=)
3g.194604404C>TCA2762551TMEM44c.1059G>A (p.Thr353=)
c.1055G>A (p.Arg352Gln)
c.1200G>A (p.Thr400=)
c.*355G>A (n.*355G>A)
c.251G>A (p.Arg84Gln)
c.333G>A (p.Thr111=)
c.558G>A (p.Thr186=)
n.105G>A
n.823G>A
c.1209G>A (p.Thr403=)
c.1146G>A (p.Thr382=)
c.1257G>A (p.Thr419=)
c.1125G>A (p.Thr375=)
c.1116G>A (p.Thr372=)
c.954G>A (p.Thr318=)
c.1068G>A (p.Thr356=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.194604405G>ACA2762552TMEM44c.1058C>T (p.Thr353Met)
c.1054C>T (p.Arg352Ter)
c.1199C>T (p.Thr400Met)
c.*354C>T (n.*354C>T)
c.250C>T (p.Arg84Ter)
c.332C>T (p.Thr111Met)
c.557C>T (p.Thr186Met)
n.104C>T
n.822C>T
c.1208C>T (p.Thr403Met)
c.1145C>T (p.Thr382Met)
c.1256C>T (p.Thr419Met)
c.1124C>T (p.Thr375Met)
c.1115C>T (p.Thr372Met)
c.953C>T (p.Thr318Met)
c.1067C>T (p.Thr356Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.194604405G>CCA355825008TMEM44c.1058C>G (p.Thr353Arg)
c.1054C>G (p.Arg352Gly)
c.1199C>G (p.Thr400Arg)
c.*354C>G (n.*354C>G)
c.250C>G (p.Arg84Gly)
c.332C>G (p.Thr111Arg)
c.557C>G (p.Thr186Arg)
n.104C>G
n.822C>G
c.1208C>G (p.Thr403Arg)
c.1145C>G (p.Thr382Arg)
c.1256C>G (p.Thr419Arg)
c.1124C>G (p.Thr375Arg)
c.1115C>G (p.Thr372Arg)
c.953C>G (p.Thr318Arg)
c.1067C>G (p.Thr356Arg)
3g.194604405G=CA1430709379TMEM44c.1058C= (p.Thr353=)
c.1054C= (p.Arg352=)
c.1199C= (p.Thr400=)
c.*354C= (n.*354C=)
c.250C= (p.Arg84=)
c.332C= (p.Thr111=)
c.557C= (p.Thr186=)
n.104C=
n.822C=
c.1208C= (p.Thr403=)
c.1145C= (p.Thr382=)
c.1256C= (p.Thr419=)
c.1124C= (p.Thr375=)
c.1115C= (p.Thr372=)
c.953C= (p.Thr318=)
c.1067C= (p.Thr356=)
3g.194604405G>TCA355825009TMEM44c.1058C>A (p.Thr353Lys)
c.1054C>A (p.Arg352=)
c.1199C>A (p.Thr400Lys)
c.*354C>A (n.*354C>A)
c.250C>A (p.Arg84=)
c.332C>A (p.Thr111Lys)
c.557C>A (p.Thr186Lys)
n.104C>A
n.822C>A
c.1208C>A (p.Thr403Lys)
c.1145C>A (p.Thr382Lys)
c.1256C>A (p.Thr419Lys)
c.1124C>A (p.Thr375Lys)
c.1115C>A (p.Thr372Lys)
c.953C>A (p.Thr318Lys)
c.1067C>A (p.Thr356Lys)
 gnomAD v4
3g.194604406T>ACA355825010TMEM44c.1057A>T (p.Thr353Ser)
c.1053A>T (p.Arg351Ser)
c.1198A>T (p.Thr400Ser)
c.*353A>T (n.*353A>T)
c.249A>T (p.Arg83Ser)
c.331A>T (p.Thr111Ser)
c.556A>T (p.Thr186Ser)
n.103A>T
n.821A>T
c.1207A>T (p.Thr403Ser)
c.1144A>T (p.Thr382Ser)
c.1255A>T (p.Thr419Ser)
c.1123A>T (p.Thr375Ser)
c.1114A>T (p.Thr372Ser)
c.952A>T (p.Thr318Ser)
c.1066A>T (p.Thr356Ser)
3g.194604406T>CCA355825012TMEM44c.1057A>G (p.Thr353Ala)
c.1053A>G (p.Arg351=)
c.1198A>G (p.Thr400Ala)
c.*353A>G (n.*353A>G)
c.249A>G (p.Arg83=)
c.331A>G (p.Thr111Ala)
c.556A>G (p.Thr186Ala)
n.103A>G
n.821A>G
c.1207A>G (p.Thr403Ala)
c.1144A>G (p.Thr382Ala)
c.1255A>G (p.Thr419Ala)
c.1123A>G (p.Thr375Ala)
c.1114A>G (p.Thr372Ala)
c.952A>G (p.Thr318Ala)
c.1066A>G (p.Thr356Ala)
 gnomAD v4
3g.194604406T>GCA355825011TMEM44c.1057A>C (p.Thr353Pro)
c.1053A>C (p.Arg351Ser)
c.1198A>C (p.Thr400Pro)
c.*353A>C (n.*353A>C)
c.249A>C (p.Arg83Ser)
c.331A>C (p.Thr111Pro)
c.556A>C (p.Thr186Pro)
n.103A>C
n.821A>C
c.1207A>C (p.Thr403Pro)
c.1144A>C (p.Thr382Pro)
c.1255A>C (p.Thr419Pro)
c.1123A>C (p.Thr375Pro)
c.1114A>C (p.Thr372Pro)
c.952A>C (p.Thr318Pro)
c.1066A>C (p.Thr356Pro)
3g.194604407C>ACA355825013TMEM44c.1056G>T (p.Gln352His)
c.1052G>T (p.Arg351Ile)
c.1197G>T (p.Gln399His)
c.*352G>T (n.*352G>T)
c.248G>T (p.Arg83Ile)
c.330G>T (p.Gln110His)
c.555G>T (p.Gln185His)
n.102G>T
n.820G>T
c.1206G>T (p.Gln402His)
c.1143G>T (p.Gln381His)
c.1254G>T (p.Gln418His)
c.1122G>T (p.Gln374His)
c.1113G>T (p.Gln371His)
c.951G>T (p.Gln317His)
c.1065G>T (p.Gln355His)
 gnomAD v4
3g.194604407C=CA1430709382TMEM44c.1056G= (p.Gln352=)
c.1052G= (p.Arg351=)
c.1197G= (p.Gln399=)
c.*352G= (n.*352G=)
c.248G= (p.Arg83=)
c.330G= (p.Gln110=)
c.555G= (p.Gln185=)
n.102G=
n.820G=
c.1206G= (p.Gln402=)
c.1143G= (p.Gln381=)
c.1254G= (p.Gln418=)
c.1122G= (p.Gln374=)
c.1113G= (p.Gln371=)
c.951G= (p.Gln317=)
c.1065G= (p.Gln355=)
3g.194604407C>GCA355825014TMEM44c.1056G>C (p.Gln352His)
c.1052G>C (p.Arg351Thr)
c.1197G>C (p.Gln399His)
c.*352G>C (n.*352G>C)
c.248G>C (p.Arg83Thr)
c.330G>C (p.Gln110His)
c.555G>C (p.Gln185His)
n.102G>C
n.820G>C
c.1206G>C (p.Gln402His)
c.1143G>C (p.Gln381His)
c.1254G>C (p.Gln418His)
c.1122G>C (p.Gln374His)
c.1113G>C (p.Gln371His)
c.951G>C (p.Gln317His)
c.1065G>C (p.Gln355His)
 gnomAD v4
3g.194604407C>TCA355825015TMEM44c.1056G>A (p.Gln352=)
c.1052G>A (p.Arg351Lys)
c.1197G>A (p.Gln399=)
c.*352G>A (n.*352G>A)
c.248G>A (p.Arg83Lys)
c.330G>A (p.Gln110=)
c.555G>A (p.Gln185=)
n.102G>A
n.820G>A
c.1206G>A (p.Gln402=)
c.1143G>A (p.Gln381=)
c.1254G>A (p.Gln418=)
c.1122G>A (p.Gln374=)
c.1113G>A (p.Gln371=)
c.951G>A (p.Gln317=)
c.1065G>A (p.Gln355=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.194604408T>ACA355825016TMEM44c.1055A>T (p.Gln352Leu)
c.1051A>T (p.Arg351Ter)
c.1196A>T (p.Gln399Leu)
c.*351A>T (n.*351A>T)
c.247A>T (p.Arg83Ter)
c.329A>T (p.Gln110Leu)
c.554A>T (p.Gln185Leu)
n.101A>T
n.819A>T
c.1205A>T (p.Gln402Leu)
c.1142A>T (p.Gln381Leu)
c.1253A>T (p.Gln418Leu)
c.1121A>T (p.Gln374Leu)
c.1112A>T (p.Gln371Leu)
c.950A>T (p.Gln317Leu)
c.1064A>T (p.Gln355Leu)
 gnomAD v4
3g.194604408T>CCA355825017TMEM44c.1055A>G (p.Gln352Arg)
c.1051A>G (p.Arg351Gly)
c.1196A>G (p.Gln399Arg)
c.*351A>G (n.*351A>G)
c.247A>G (p.Arg83Gly)
c.329A>G (p.Gln110Arg)
c.554A>G (p.Gln185Arg)
n.101A>G
n.819A>G
c.1205A>G (p.Gln402Arg)
c.1142A>G (p.Gln381Arg)
c.1253A>G (p.Gln418Arg)
c.1121A>G (p.Gln374Arg)
c.1112A>G (p.Gln371Arg)
c.950A>G (p.Gln317Arg)
c.1064A>G (p.Gln355Arg)
 gnomAD v4
3g.194604408T>GCA355825018TMEM44c.1055A>C (p.Gln352Pro)
c.1051A>C (p.Arg351=)
c.1196A>C (p.Gln399Pro)
c.*351A>C (n.*351A>C)
c.247A>C (p.Arg83=)
c.329A>C (p.Gln110Pro)
c.554A>C (p.Gln185Pro)
n.101A>C
n.819A>C
c.1205A>C (p.Gln402Pro)
c.1142A>C (p.Gln381Pro)
c.1253A>C (p.Gln418Pro)
c.1121A>C (p.Gln374Pro)
c.1112A>C (p.Gln371Pro)
c.950A>C (p.Gln317Pro)
c.1064A>C (p.Gln355Pro)
3g.194604409G>ACA355825019TMEM44c.1054C>T (p.Gln352Ter)
c.1050C>T (p.Gly350=)
c.1195C>T (p.Gln399Ter)
c.*350C>T (n.*350C>T)
c.246C>T (p.Gly82=)
c.328C>T (p.Gln110Ter)
c.553C>T (p.Gln185Ter)
n.100C>T
n.818C>T
c.1204C>T (p.Gln402Ter)
c.1141C>T (p.Gln381Ter)
c.1252C>T (p.Gln418Ter)
c.1120C>T (p.Gln374Ter)
c.1111C>T (p.Gln371Ter)
c.949C>T (p.Gln317Ter)
c.1063C>T (p.Gln355Ter)
 gnomAD v4
3g.194604409G>CCA355825020TMEM44c.1054C>G (p.Gln352Glu)
c.1050C>G (p.Gly350=)
c.1195C>G (p.Gln399Glu)
c.*350C>G (n.*350C>G)
c.246C>G (p.Gly82=)
c.328C>G (p.Gln110Glu)
c.553C>G (p.Gln185Glu)
n.100C>G
n.818C>G
c.1204C>G (p.Gln402Glu)
c.1141C>G (p.Gln381Glu)
c.1252C>G (p.Gln418Glu)
c.1120C>G (p.Gln374Glu)
c.1111C>G (p.Gln371Glu)
c.949C>G (p.Gln317Glu)
c.1063C>G (p.Gln355Glu)
3g.194604409G>TCA355825021TMEM44c.1054C>A (p.Gln352Lys)
c.1050C>A (p.Gly350=)
c.1195C>A (p.Gln399Lys)
c.*350C>A (n.*350C>A)
c.246C>A (p.Gly82=)
c.328C>A (p.Gln110Lys)
c.553C>A (p.Gln185Lys)
n.100C>A
n.818C>A
c.1204C>A (p.Gln402Lys)
c.1141C>A (p.Gln381Lys)
c.1252C>A (p.Gln418Lys)
c.1120C>A (p.Gln374Lys)
c.1111C>A (p.Gln371Lys)
c.949C>A (p.Gln317Lys)
c.1063C>A (p.Gln355Lys)
 gnomAD v4
3g.194604410C>ACA355825022TMEM44c.1053G>T (p.Gly351=)
c.1049G>T (p.Gly350Val)
c.1194G>T (p.Gly398=)
c.*349G>T (n.*349G>T)
c.245G>T (p.Gly82Val)
c.327G>T (p.Gly109=)
c.552G>T (p.Gly184=)
n.99G>T
n.817G>T
c.1203G>T (p.Gly401=)
c.1140G>T (p.Gly380=)
c.1251G>T (p.Gly417=)
c.1119G>T (p.Gly373=)
c.1110G>T (p.Gly370=)
c.948G>T (p.Gly316=)
c.1062G>T (p.Gly354=)
 gnomAD v4
3g.194604410C>GCA355825023TMEM44c.1053G>C (p.Gly351=)
c.1049G>C (p.Gly350Ala)
c.1194G>C (p.Gly398=)
c.*349G>C (n.*349G>C)
c.245G>C (p.Gly82Ala)
c.327G>C (p.Gly109=)
c.552G>C (p.Gly184=)
n.99G>C
n.817G>C
c.1203G>C (p.Gly401=)
c.1140G>C (p.Gly380=)
c.1251G>C (p.Gly417=)
c.1119G>C (p.Gly373=)
c.1110G>C (p.Gly370=)
c.948G>C (p.Gly316=)
c.1062G>C (p.Gly354=)
3g.194604410C>TCA355825024TMEM44c.1053G>A (p.Gly351=)
c.1049G>A (p.Gly350Asp)
c.1194G>A (p.Gly398=)
c.*349G>A (n.*349G>A)
c.245G>A (p.Gly82Asp)
c.327G>A (p.Gly109=)
c.552G>A (p.Gly184=)
n.99G>A
n.817G>A
c.1203G>A (p.Gly401=)
c.1140G>A (p.Gly380=)
c.1251G>A (p.Gly417=)
c.1119G>A (p.Gly373=)
c.1110G>A (p.Gly370=)
c.948G>A (p.Gly316=)
c.1062G>A (p.Gly354=)
 dbSNP gnomAD v4
3g.194604412dupCA2669137842TMEM44c.1053dup (p.Gln352AlafsTer?)
c.1049dup (p.Arg351GlnfsTer?)
c.1194dup (p.Gln399AlafsTer?)
c.*349dup (n.*349dup)
c.245dup (p.Arg83GlnfsTer?)
c.327dup (p.Gln110AlafsTer?)
c.552dup (p.Gln185AlafsTer?)
n.99dup
n.817dup
c.1203dup (p.Gln402AlafsTer?)
c.1140dup (p.Gln381AlafsTer?)
c.1251dup (p.Gln418AlafsTer?)
c.1119dup (p.Gln374AlafsTer?)
c.1110dup (p.Gln371AlafsTer?)
c.948dup (p.Gln317AlafsTer?)
c.1062dup (p.Gln355AlafsTer?)
 gnomAD v4
3g.194604411C>ACA355825027TMEM44c.1052G>T (p.Gly351Val)
c.1048G>T (p.Gly350Cys)
c.1193G>T (p.Gly398Val)
c.*348G>T (n.*348G>T)
c.244G>T (p.Gly82Cys)
c.326G>T (p.Gly109Val)
c.551G>T (p.Gly184Val)
n.98G>T
n.816G>T
c.1202G>T (p.Gly401Val)
c.1139G>T (p.Gly380Val)
c.1250G>T (p.Gly417Val)
c.1118G>T (p.Gly373Val)
c.1109G>T (p.Gly370Val)
c.947G>T (p.Gly316Val)
c.1061G>T (p.Gly354Val)
 gnomAD v4
3g.194604411C>GCA355825025TMEM44c.1052G>C (p.Gly351Ala)
c.1048G>C (p.Gly350Arg)
c.1193G>C (p.Gly398Ala)
c.*348G>C (n.*348G>C)
c.244G>C (p.Gly82Arg)
c.326G>C (p.Gly109Ala)
c.551G>C (p.Gly184Ala)
n.98G>C
n.816G>C
c.1202G>C (p.Gly401Ala)
c.1139G>C (p.Gly380Ala)
c.1250G>C (p.Gly417Ala)
c.1118G>C (p.Gly373Ala)
c.1109G>C (p.Gly370Ala)
c.947G>C (p.Gly316Ala)
c.1061G>C (p.Gly354Ala)
3g.194604411C>TCA355825026TMEM44c.1052G>A (p.Gly351Glu)
c.1048G>A (p.Gly350Ser)
c.1193G>A (p.Gly398Glu)
c.*348G>A (n.*348G>A)
c.244G>A (p.Gly82Ser)
c.326G>A (p.Gly109Glu)
c.551G>A (p.Gly184Glu)
n.98G>A
n.816G>A
c.1202G>A (p.Gly401Glu)
c.1139G>A (p.Gly380Glu)
c.1250G>A (p.Gly417Glu)
c.1118G>A (p.Gly373Glu)
c.1109G>A (p.Gly370Glu)
c.947G>A (p.Gly316Glu)
c.1061G>A (p.Gly354Glu)
 gnomAD v4
3g.194604412C>ACA355825028TMEM44c.1051G>T (p.Gly351Trp)
c.1047G>T (p.Thr349=)
c.1192G>T (p.Gly398Trp)
c.*347G>T (n.*347G>T)
c.243G>T (p.Thr81=)
c.325G>T (p.Gly109Trp)
c.550G>T (p.Gly184Trp)
n.97G>T
n.815G>T
c.1201G>T (p.Gly401Trp)
c.1138G>T (p.Gly380Trp)
c.1249G>T (p.Gly417Trp)
c.1117G>T (p.Gly373Trp)
c.1108G>T (p.Gly370Trp)
c.946G>T (p.Gly316Trp)
c.1060G>T (p.Gly354Trp)
 gnomAD v4 COSMIC COSMIC
3g.194604412C=CA1430709385TMEM44c.1051G= (p.Gly351=)
c.1047G= (p.Thr349=)
c.1192G= (p.Gly398=)
c.*347G= (n.*347G=)
c.243G= (p.Thr81=)
c.325G= (p.Gly109=)
c.550G= (p.Gly184=)
n.97G=
n.815G=
c.1201G= (p.Gly401=)
c.1138G= (p.Gly380=)
c.1249G= (p.Gly417=)
c.1117G= (p.Gly373=)
c.1108G= (p.Gly370=)
c.946G= (p.Gly316=)
c.1060G= (p.Gly354=)
3g.194604412C>GCA355825029TMEM44c.1051G>C (p.Gly351Arg)
c.1047G>C (p.Thr349=)
c.1192G>C (p.Gly398Arg)
c.*347G>C (n.*347G>C)
c.243G>C (p.Thr81=)
c.325G>C (p.Gly109Arg)
c.550G>C (p.Gly184Arg)
n.97G>C
n.815G>C
c.1201G>C (p.Gly401Arg)
c.1138G>C (p.Gly380Arg)
c.1249G>C (p.Gly417Arg)
c.1117G>C (p.Gly373Arg)
c.1108G>C (p.Gly370Arg)
c.946G>C (p.Gly316Arg)
c.1060G>C (p.Gly354Arg)
 dbSNP gnomAD v2 gnomAD v4
3g.194604412C>TCA90641492TMEM44c.1051G>A (p.Gly351Arg)
c.1047G>A (p.Thr349=)
c.1192G>A (p.Gly398Arg)
c.*347G>A (n.*347G>A)
c.243G>A (p.Thr81=)
c.325G>A (p.Gly109Arg)
c.550G>A (p.Gly184Arg)
n.97G>A
n.815G>A
c.1201G>A (p.Gly401Arg)
c.1138G>A (p.Gly380Arg)
c.1249G>A (p.Gly417Arg)
c.1117G>A (p.Gly373Arg)
c.1108G>A (p.Gly370Arg)
c.946G>A (p.Gly316Arg)
c.1060G>A (p.Gly354Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.194604413G>ACA2762553TMEM44c.1050C>T (p.Asp350=)
c.1046C>T (p.Thr349Met)
c.1191C>T (p.Asp397=)
c.*346C>T (n.*346C>T)
c.242C>T (p.Thr81Met)
c.324C>T (p.Asp108=)
c.549C>T (p.Asp183=)
n.96C>T
n.814C>T
c.1200C>T (p.Asp400=)
c.1137C>T (p.Asp379=)
c.1248C>T (p.Asp416=)
c.1116C>T (p.Asp372=)
c.1107C>T (p.Asp369=)
c.945C>T (p.Asp315=)
c.1059C>T (p.Asp353=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.194604413G>CCA355825030TMEM44c.1050C>G (p.Asp350Glu)
c.1046C>G (p.Thr349Arg)
c.1191C>G (p.Asp397Glu)
c.*346C>G (n.*346C>G)
c.242C>G (p.Thr81Arg)
c.324C>G (p.Asp108Glu)
c.549C>G (p.Asp183Glu)
n.96C>G
n.814C>G
c.1200C>G (p.Asp400Glu)
c.1137C>G (p.Asp379Glu)
c.1248C>G (p.Asp416Glu)
c.1116C>G (p.Asp372Glu)
c.1107C>G (p.Asp369Glu)
c.945C>G (p.Asp315Glu)
c.1059C>G (p.Asp353Glu)
3g.194604413G=CA1430709388TMEM44c.1050C= (p.Asp350=)
c.1046C= (p.Thr349=)
c.1191C= (p.Asp397=)
c.*346C= (n.*346C=)
c.242C= (p.Thr81=)
c.324C= (p.Asp108=)
c.549C= (p.Asp183=)
n.96C=
n.814C=
c.1200C= (p.Asp400=)
c.1137C= (p.Asp379=)
c.1248C= (p.Asp416=)
c.1116C= (p.Asp372=)
c.1107C= (p.Asp369=)
c.945C= (p.Asp315=)
c.1059C= (p.Asp353=)
3g.194604413G>TCA355825031TMEM44c.1050C>A (p.Asp350Glu)
c.1046C>A (p.Thr349Lys)
c.1191C>A (p.Asp397Glu)
c.*346C>A (n.*346C>A)
c.242C>A (p.Thr81Lys)
c.324C>A (p.Asp108Glu)
c.549C>A (p.Asp183Glu)
n.96C>A
n.814C>A
c.1200C>A (p.Asp400Glu)
c.1137C>A (p.Asp379Glu)
c.1248C>A (p.Asp416Glu)
c.1116C>A (p.Asp372Glu)
c.1107C>A (p.Asp369Glu)
c.945C>A (p.Asp315Glu)
c.1059C>A (p.Asp353Glu)
 gnomAD v4
3g.194604414T>ACA355825032TMEM44c.1049A>T (p.Asp350Val)
c.1045A>T (p.Thr349Ser)
c.1190A>T (p.Asp397Val)
c.*345A>T (n.*345A>T)
c.241A>T (p.Thr81Ser)
c.323A>T (p.Asp108Val)
c.548A>T (p.Asp183Val)
n.95A>T
n.813A>T
c.1199A>T (p.Asp400Val)
c.1136A>T (p.Asp379Val)
c.1247A>T (p.Asp416Val)
c.1115A>T (p.Asp372Val)
c.1106A>T (p.Asp369Val)
c.944A>T (p.Asp315Val)
c.1058A>T (p.Asp353Val)
3g.194604414T>CCA2762554TMEM44c.1049A>G (p.Asp350Gly)
c.1045A>G (p.Thr349Ala)
c.1190A>G (p.Asp397Gly)
c.*345A>G (n.*345A>G)
c.241A>G (p.Thr81Ala)
c.323A>G (p.Asp108Gly)
c.548A>G (p.Asp183Gly)
n.95A>G
n.813A>G
c.1199A>G (p.Asp400Gly)
c.1136A>G (p.Asp379Gly)
c.1247A>G (p.Asp416Gly)
c.1115A>G (p.Asp372Gly)
c.1106A>G (p.Asp369Gly)
c.944A>G (p.Asp315Gly)
c.1058A>G (p.Asp353Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.194604414T>GCA355825033TMEM44c.1049A>C (p.Asp350Ala)
c.1045A>C (p.Thr349Pro)
c.1190A>C (p.Asp397Ala)
c.*345A>C (n.*345A>C)
c.241A>C (p.Thr81Pro)
c.323A>C (p.Asp108Ala)
c.548A>C (p.Asp183Ala)
n.95A>C
n.813A>C
c.1199A>C (p.Asp400Ala)
c.1136A>C (p.Asp379Ala)
c.1247A>C (p.Asp416Ala)
c.1115A>C (p.Asp372Ala)
c.1106A>C (p.Asp369Ala)
c.944A>C (p.Asp315Ala)
c.1058A>C (p.Asp353Ala)
3g.194604414T=CA1430709390TMEM44c.1049A= (p.Asp350=)
c.1045A= (p.Thr349=)
c.1190A= (p.Asp397=)
c.*345A= (n.*345A=)
c.241A= (p.Thr81=)
c.323A= (p.Asp108=)
c.548A= (p.Asp183=)
n.95A=
n.813A=
c.1199A= (p.Asp400=)
c.1136A= (p.Asp379=)
c.1247A= (p.Asp416=)
c.1115A= (p.Asp372=)
c.1106A= (p.Asp369=)
c.944A= (p.Asp315=)
c.1058A= (p.Asp353=)
3g.194604415C>ACA355825034TMEM44c.1048G>T (p.Asp350Tyr)
c.1044G>T (p.Val348=)
c.1189G>T (p.Asp397Tyr)
c.*344G>T (n.*344G>T)
c.240G>T (p.Val80=)
c.322G>T (p.Asp108Tyr)
c.547G>T (p.Asp183Tyr)
n.94G>T
n.812G>T
c.1198G>T (p.Asp400Tyr)
c.1135G>T (p.Asp379Tyr)
c.1246G>T (p.Asp416Tyr)
c.1114G>T (p.Asp372Tyr)
c.1105G>T (p.Asp369Tyr)
c.943G>T (p.Asp315Tyr)
c.1057G>T (p.Asp353Tyr)
 gnomAD v4
3g.194604415C>GCA355825035TMEM44c.1048G>C (p.Asp350His)
c.1044G>C (p.Val348=)
c.1189G>C (p.Asp397His)
c.*344G>C (n.*344G>C)
c.240G>C (p.Val80=)
c.322G>C (p.Asp108His)
c.547G>C (p.Asp183His)
n.94G>C
n.812G>C
c.1198G>C (p.Asp400His)
c.1135G>C (p.Asp379His)
c.1246G>C (p.Asp416His)
c.1114G>C (p.Asp372His)
c.1105G>C (p.Asp369His)
c.943G>C (p.Asp315His)
c.1057G>C (p.Asp353His)
3g.194604415C>TCA355825036TMEM44c.1048G>A (p.Asp350Asn)
c.1044G>A (p.Val348=)
c.1189G>A (p.Asp397Asn)
c.*344G>A (n.*344G>A)
c.240G>A (p.Val80=)
c.322G>A (p.Asp108Asn)
c.547G>A (p.Asp183Asn)
n.94G>A
n.812G>A
c.1198G>A (p.Asp400Asn)
c.1135G>A (p.Asp379Asn)
c.1246G>A (p.Asp416Asn)
c.1114G>A (p.Asp372Asn)
c.1105G>A (p.Asp369Asn)
c.943G>A (p.Asp315Asn)
c.1057G>A (p.Asp353Asn)
 gnomAD v4
3g.194604416A>CCA355825038TMEM44c.1047T>G (p.Gly349=)
c.1043T>G (p.Val348Gly)
c.1188T>G (p.Gly396=)
c.*343T>G (n.*343T>G)
c.239T>G (p.Val80Gly)
c.321T>G (p.Gly107=)
c.546T>G (p.Gly182=)
n.93T>G
n.811T>G
c.1197T>G (p.Gly399=)
c.1134T>G (p.Gly378=)
c.1245T>G (p.Gly415=)
c.1113T>G (p.Gly371=)
c.1104T>G (p.Gly368=)
c.942T>G (p.Gly314=)
c.1056T>G (p.Gly352=)
3g.194604416A>GCA355825039TMEM44c.1047T>C (p.Gly349=)
c.1043T>C (p.Val348Ala)
c.1188T>C (p.Gly396=)
c.*343T>C (n.*343T>C)
c.239T>C (p.Val80Ala)
c.321T>C (p.Gly107=)
c.546T>C (p.Gly182=)
n.93T>C
n.811T>C
c.1197T>C (p.Gly399=)
c.1134T>C (p.Gly378=)
c.1245T>C (p.Gly415=)
c.1113T>C (p.Gly371=)
c.1104T>C (p.Gly368=)
c.942T>C (p.Gly314=)
c.1056T>C (p.Gly352=)
 gnomAD v4
3g.194604416A>TCA355825037TMEM44c.1047T>A (p.Gly349=)
c.1043T>A (p.Val348Glu)
c.1188T>A (p.Gly396=)
c.*343T>A (n.*343T>A)
c.239T>A (p.Val80Glu)
c.321T>A (p.Gly107=)
c.546T>A (p.Gly182=)
n.93T>A
n.811T>A
c.1197T>A (p.Gly399=)
c.1134T>A (p.Gly378=)
c.1245T>A (p.Gly415=)
c.1113T>A (p.Gly371=)
c.1104T>A (p.Gly368=)
c.942T>A (p.Gly314=)
c.1056T>A (p.Gly352=)
3g.194604416_194604417delinsACCA1430709394TMEM44c.1046_1047delinsGT (p.Gly349=)
c.1042_1043delinsGT (p.Val348=)
c.1187_1188delinsGT (p.Gly396=)
c.*342_*343delinsGT (n.*342_*343delinsGT)
c.238_239delinsGT (p.Val80=)
c.320_321delinsGT (p.Gly107=)
c.545_546delinsGT (p.Gly182=)
n.92_93delinsGT
n.810_811delinsGT
c.1196_1197delinsGT (p.Gly399=)
c.1133_1134delinsGT (p.Gly378=)
c.1244_1245delinsGT (p.Gly415=)
c.1112_1113delinsGT (p.Gly371=)
c.1103_1104delinsGT (p.Gly368=)
c.941_942delinsGT (p.Gly314=)
c.1055_1056delinsGT (p.Gly352=)
3g.194604417C>ACA355825042TMEM44c.1046G>T (p.Gly349Val)
c.1042G>T (p.Val348Leu)
c.1187G>T (p.Gly396Val)
c.*342G>T (n.*342G>T)
c.238G>T (p.Val80Leu)
c.320G>T (p.Gly107Val)
c.545G>T (p.Gly182Val)
n.92G>T
n.810G>T
c.1196G>T (p.Gly399Val)
c.1133G>T (p.Gly378Val)
c.1244G>T (p.Gly415Val)
c.1112G>T (p.Gly371Val)
c.1103G>T (p.Gly368Val)
c.941G>T (p.Gly314Val)
c.1055G>T (p.Gly352Val)
 gnomAD v4
3g.194604417C>GCA355825040TMEM44c.1046G>C (p.Gly349Ala)
c.1042G>C (p.Val348Leu)
c.1187G>C (p.Gly396Ala)
c.*342G>C (n.*342G>C)
c.238G>C (p.Val80Leu)
c.320G>C (p.Gly107Ala)
c.545G>C (p.Gly182Ala)
n.92G>C
n.810G>C
c.1196G>C (p.Gly399Ala)
c.1133G>C (p.Gly378Ala)
c.1244G>C (p.Gly415Ala)
c.1112G>C (p.Gly371Ala)
c.1103G>C (p.Gly368Ala)
c.941G>C (p.Gly314Ala)
c.1055G>C (p.Gly352Ala)
3g.194604417C>TCA355825041TMEM44c.1046G>A (p.Gly349Asp)
c.1042G>A (p.Val348Met)
c.1187G>A (p.Gly396Asp)
c.*342G>A (n.*342G>A)
c.238G>A (p.Val80Met)
c.320G>A (p.Gly107Asp)
c.545G>A (p.Gly182Asp)
n.92G>A
n.810G>A
c.1196G>A (p.Gly399Asp)
c.1133G>A (p.Gly378Asp)
c.1244G>A (p.Gly415Asp)
c.1112G>A (p.Gly371Asp)
c.1103G>A (p.Gly368Asp)
c.941G>A (p.Gly314Asp)
c.1055G>A (p.Gly352Asp)
 gnomAD v4
3g.194604418delCA548848422TMEM44c.1046del (p.Gly349ValfsTer?)
c.1042del (p.Val348Ter)
c.1187del (p.Gly396ValfsTer?)
c.*342del (n.*342del)
c.238del (p.Val80Ter)
c.320del (p.Gly107ValfsTer?)
c.545del (p.Gly182ValfsTer?)
n.92del
n.810del
c.1196del (p.Gly399ValfsTer?)
c.1133del (p.Gly378ValfsTer?)
c.1244del (p.Gly415ValfsTer?)
c.1112del (p.Gly371ValfsTer?)
c.1103del (p.Gly368ValfsTer?)
c.941del (p.Gly314ValfsTer?)
c.1055del (p.Gly352ValfsTer?)
 dbSNP gnomAD v2 gnomAD v4
3g.194604418C>ACA355825043TMEM44c.1045G>T (p.Gly349Cys)
c.1041G>T (p.Gln347His)
c.1186G>T (p.Gly396Cys)
c.*341G>T (n.*341G>T)
c.237G>T (p.Gln79His)
c.319G>T (p.Gly107Cys)
c.544G>T (p.Gly182Cys)
n.91G>T
n.809G>T
c.1195G>T (p.Gly399Cys)
c.1132G>T (p.Gly378Cys)
c.1243G>T (p.Gly415Cys)
c.1111G>T (p.Gly371Cys)
c.1102G>T (p.Gly368Cys)
c.940G>T (p.Gly314Cys)
c.1054G>T (p.Gly352Cys)
 gnomAD v4
3g.194604418C>GCA355825044TMEM44c.1045G>C (p.Gly349Arg)
c.1041G>C (p.Gln347His)
c.1186G>C (p.Gly396Arg)
c.*341G>C (n.*341G>C)
c.237G>C (p.Gln79His)
c.319G>C (p.Gly107Arg)
c.544G>C (p.Gly182Arg)
n.91G>C
n.809G>C
c.1195G>C (p.Gly399Arg)
c.1132G>C (p.Gly378Arg)
c.1243G>C (p.Gly415Arg)
c.1111G>C (p.Gly371Arg)
c.1102G>C (p.Gly368Arg)
c.940G>C (p.Gly314Arg)
c.1054G>C (p.Gly352Arg)
 gnomAD v4
3g.194604418C>TCA355825045TMEM44c.1045G>A (p.Gly349Ser)
c.1041G>A (p.Gln347=)
c.1186G>A (p.Gly396Ser)
c.*341G>A (n.*341G>A)
c.237G>A (p.Gln79=)
c.319G>A (p.Gly107Ser)
c.544G>A (p.Gly182Ser)
n.91G>A
n.809G>A
c.1195G>A (p.Gly399Ser)
c.1132G>A (p.Gly378Ser)
c.1243G>A (p.Gly415Ser)
c.1111G>A (p.Gly371Ser)
c.1102G>A (p.Gly368Ser)
c.940G>A (p.Gly314Ser)
c.1054G>A (p.Gly352Ser)
 gnomAD v4
3g.194604419T>ACA355825048TMEM44c.1044A>T (p.Pro348=)
c.1040A>T (p.Gln347Leu)
c.1185A>T (p.Pro395=)
c.*340A>T (n.*340A>T)
c.236A>T (p.Gln79Leu)
c.318A>T (p.Pro106=)
c.543A>T (p.Pro181=)
n.90A>T
n.808A>T
c.1194A>T (p.Pro398=)
c.1131A>T (p.Pro377=)
c.1242A>T (p.Pro414=)
c.1110A>T (p.Pro370=)
c.1101A>T (p.Pro367=)
c.939A>T (p.Pro313=)
c.1053A>T (p.Pro351=)
3g.194604419T>CCA355825047TMEM44c.1044A>G (p.Pro348=)
c.1040A>G (p.Gln347Arg)
c.1185A>G (p.Pro395=)
c.*340A>G (n.*340A>G)
c.236A>G (p.Gln79Arg)
c.318A>G (p.Pro106=)
c.543A>G (p.Pro181=)
n.90A>G
n.808A>G
c.1194A>G (p.Pro398=)
c.1131A>G (p.Pro377=)
c.1242A>G (p.Pro414=)
c.1110A>G (p.Pro370=)
c.1101A>G (p.Pro367=)
c.939A>G (p.Pro313=)
c.1053A>G (p.Pro351=)
 gnomAD v4
3g.194604419T>GCA355825046TMEM44c.1044A>C (p.Pro348=)
c.1040A>C (p.Gln347Pro)
c.1185A>C (p.Pro395=)
c.*340A>C (n.*340A>C)
c.236A>C (p.Gln79Pro)
c.318A>C (p.Pro106=)
c.543A>C (p.Pro181=)
n.90A>C
n.808A>C
c.1194A>C (p.Pro398=)
c.1131A>C (p.Pro377=)
c.1242A>C (p.Pro414=)
c.1110A>C (p.Pro370=)
c.1101A>C (p.Pro367=)
c.939A>C (p.Pro313=)
c.1053A>C (p.Pro351=)
3g.194604420G>ACA355825049TMEM44c.1043C>T (p.Pro348Leu)
c.1039C>T (p.Gln347Ter)
c.1184C>T (p.Pro395Leu)
c.*339C>T (n.*339C>T)
c.235C>T (p.Gln79Ter)
c.317C>T (p.Pro106Leu)
c.542C>T (p.Pro181Leu)
n.89C>T
n.807C>T
c.1193C>T (p.Pro398Leu)
c.1130C>T (p.Pro377Leu)
c.1241C>T (p.Pro414Leu)
c.1109C>T (p.Pro370Leu)
c.1100C>T (p.Pro367Leu)
c.938C>T (p.Pro313Leu)
c.1052C>T (p.Pro351Leu)
 gnomAD v4
3g.194604420G>CCA355825050TMEM44c.1043C>G (p.Pro348Arg)
c.1039C>G (p.Gln347Glu)
c.1184C>G (p.Pro395Arg)
c.*339C>G (n.*339C>G)
c.235C>G (p.Gln79Glu)
c.317C>G (p.Pro106Arg)
c.542C>G (p.Pro181Arg)
n.89C>G
n.807C>G
c.1193C>G (p.Pro398Arg)
c.1130C>G (p.Pro377Arg)
c.1241C>G (p.Pro414Arg)
c.1109C>G (p.Pro370Arg)
c.1100C>G (p.Pro367Arg)
c.938C>G (p.Pro313Arg)
c.1052C>G (p.Pro351Arg)
3g.194604420G>TCA355825051TMEM44c.1043C>A (p.Pro348Gln)
c.1039C>A (p.Gln347Lys)
c.1184C>A (p.Pro395Gln)
c.*339C>A (n.*339C>A)
c.235C>A (p.Gln79Lys)
c.317C>A (p.Pro106Gln)
c.542C>A (p.Pro181Gln)
n.89C>A
n.807C>A
c.1193C>A (p.Pro398Gln)
c.1130C>A (p.Pro377Gln)
c.1241C>A (p.Pro414Gln)
c.1109C>A (p.Pro370Gln)
c.1100C>A (p.Pro367Gln)
c.938C>A (p.Pro313Gln)
c.1052C>A (p.Pro351Gln)
 gnomAD v4
3g.194604421delCA2759976082TMEM44c.1043del (p.Pro348GlnfsTer?)
c.1039del (p.Gln347ArgfsTer2)
c.1184del (p.Pro395GlnfsTer?)
c.*339del (n.*339del)
c.235del (p.Gln79ArgfsTer2)
c.317del (p.Pro106GlnfsTer?)
c.542del (p.Pro181GlnfsTer?)
n.89del
n.807del
c.1193del (p.Pro398GlnfsTer?)
c.1130del (p.Pro377GlnfsTer?)
c.1241del (p.Pro414GlnfsTer?)
c.1109del (p.Pro370GlnfsTer?)
c.1100del (p.Pro367GlnfsTer?)
c.938del (p.Pro313GlnfsTer?)
c.1052del (p.Pro351GlnfsTer?)
3g.194604421G>ACA90641499TMEM44c.1042C>T (p.Pro348Ser)
c.1038C>T (p.Cys346=)
c.1183C>T (p.Pro395Ser)
c.*338C>T (n.*338C>T)
c.234C>T (p.Cys78=)
c.316C>T (p.Pro106Ser)
c.541C>T (p.Pro181Ser)
n.88C>T
n.806C>T
c.1192C>T (p.Pro398Ser)
c.1129C>T (p.Pro377Ser)
c.1240C>T (p.Pro414Ser)
c.1108C>T (p.Pro370Ser)
c.1099C>T (p.Pro367Ser)
c.937C>T (p.Pro313Ser)
c.1051C>T (p.Pro351Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.194604421G>CCA355825052TMEM44c.1042C>G (p.Pro348Ala)
c.1038C>G (p.Cys346Trp)
c.1183C>G (p.Pro395Ala)
c.*338C>G (n.*338C>G)
c.234C>G (p.Cys78Trp)
c.316C>G (p.Pro106Ala)
c.541C>G (p.Pro181Ala)
n.88C>G
n.806C>G
c.1192C>G (p.Pro398Ala)
c.1129C>G (p.Pro377Ala)
c.1240C>G (p.Pro414Ala)
c.1108C>G (p.Pro370Ala)
c.1099C>G (p.Pro367Ala)
c.937C>G (p.Pro313Ala)
c.1051C>G (p.Pro351Ala)
3g.194604421G=CA1430709396TMEM44c.1042C= (p.Pro348=)
c.1038C= (p.Cys346=)
c.1183C= (p.Pro395=)
c.*338C= (n.*338C=)
c.234C= (p.Cys78=)
c.316C= (p.Pro106=)
c.541C= (p.Pro181=)
n.88C=
n.806C=
c.1192C= (p.Pro398=)
c.1129C= (p.Pro377=)
c.1240C= (p.Pro414=)
c.1108C= (p.Pro370=)
c.1099C= (p.Pro367=)
c.937C= (p.Pro313=)
c.1051C= (p.Pro351=)
3g.194604421G>TCA2762555TMEM44c.1042C>A (p.Pro348Thr)
c.1038C>A (p.Cys346Ter)
c.1183C>A (p.Pro395Thr)
c.*338C>A (n.*338C>A)
c.234C>A (p.Cys78Ter)
c.316C>A (p.Pro106Thr)
c.541C>A (p.Pro181Thr)
n.88C>A
n.806C>A
c.1192C>A (p.Pro398Thr)
c.1129C>A (p.Pro377Thr)
c.1240C>A (p.Pro414Thr)
c.1108C>A (p.Pro370Thr)
c.1099C>A (p.Pro367Thr)
c.937C>A (p.Pro313Thr)
c.1051C>A (p.Pro351Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.194604422C>ACA90641500TMEM44c.1041G>T (p.Leu347=)
c.1037G>T (p.Cys346Phe)
c.1182G>T (p.Leu394=)
c.*337G>T (n.*337G>T)
c.233G>T (p.Cys78Phe)
c.315G>T (p.Leu105=)
c.540G>T (p.Leu180=)
n.87G>T
n.805G>T
c.1191G>T (p.Leu397=)
c.1128G>T (p.Leu376=)
c.1239G>T (p.Leu413=)
c.1107G>T (p.Leu369=)
c.1098G>T (p.Leu366=)
c.936G>T (p.Leu312=)
c.1050G>T (p.Leu350=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.194604422C=CA1430709401TMEM44c.1041G= (p.Leu347=)
c.1037G= (p.Cys346=)
c.1182G= (p.Leu394=)
c.*337G= (n.*337G=)
c.233G= (p.Cys78=)
c.315G= (p.Leu105=)
c.540G= (p.Leu180=)
n.87G=
n.805G=
c.1191G= (p.Leu397=)
c.1128G= (p.Leu376=)
c.1239G= (p.Leu413=)
c.1107G= (p.Leu369=)
c.1098G= (p.Leu366=)
c.936G= (p.Leu312=)
c.1050G= (p.Leu350=)
3g.194604422C>GCA355825054TMEM44c.1041G>C (p.Leu347=)
c.1037G>C (p.Cys346Ser)
c.1182G>C (p.Leu394=)
c.*337G>C (n.*337G>C)
c.233G>C (p.Cys78Ser)
c.315G>C (p.Leu105=)
c.540G>C (p.Leu180=)
n.87G>C
n.805G>C
c.1191G>C (p.Leu397=)
c.1128G>C (p.Leu376=)
c.1239G>C (p.Leu413=)
c.1107G>C (p.Leu369=)
c.1098G>C (p.Leu366=)
c.936G>C (p.Leu312=)
c.1050G>C (p.Leu350=)
3g.194604422C>TCA355825053TMEM44c.1041G>A (p.Leu347=)
c.1037G>A (p.Cys346Tyr)
c.1182G>A (p.Leu394=)
c.*337G>A (n.*337G>A)
c.233G>A (p.Cys78Tyr)
c.315G>A (p.Leu105=)
c.540G>A (p.Leu180=)
n.87G>A
n.805G>A
c.1191G>A (p.Leu397=)
c.1128G>A (p.Leu376=)
c.1239G>A (p.Leu413=)
c.1107G>A (p.Leu369=)
c.1098G>A (p.Leu366=)
c.936G>A (p.Leu312=)
c.1050G>A (p.Leu350=)
3g.194604423A>CCA355825055TMEM44c.1040T>G (p.Leu347Arg)
c.1036T>G (p.Cys346Gly)
c.1181T>G (p.Leu394Arg)
c.*336T>G (n.*336T>G)
c.232T>G (p.Cys78Gly)
c.314T>G (p.Leu105Arg)
c.539T>G (p.Leu180Arg)
n.86T>G
n.804T>G
c.1190T>G (p.Leu397Arg)
c.1127T>G (p.Leu376Arg)
c.1238T>G (p.Leu413Arg)
c.1106T>G (p.Leu369Arg)
c.1097T>G (p.Leu366Arg)
c.935T>G (p.Leu312Arg)
c.1049T>G (p.Leu350Arg)
3g.194604423A>GCA355825056TMEM44c.1040T>C (p.Leu347Pro)
c.1036T>C (p.Cys346Arg)
c.1181T>C (p.Leu394Pro)
c.*336T>C (n.*336T>C)
c.232T>C (p.Cys78Arg)
c.314T>C (p.Leu105Pro)
c.539T>C (p.Leu180Pro)
n.86T>C
n.804T>C
c.1190T>C (p.Leu397Pro)
c.1127T>C (p.Leu376Pro)
c.1238T>C (p.Leu413Pro)
c.1106T>C (p.Leu369Pro)
c.1097T>C (p.Leu366Pro)
c.935T>C (p.Leu312Pro)
c.1049T>C (p.Leu350Pro)
 gnomAD v4
3g.194604423A>TCA355825057TMEM44c.1040T>A (p.Leu347Gln)
c.1036T>A (p.Cys346Ser)
c.1181T>A (p.Leu394Gln)
c.*336T>A (n.*336T>A)
c.232T>A (p.Cys78Ser)
c.314T>A (p.Leu105Gln)
c.539T>A (p.Leu180Gln)
n.86T>A
n.804T>A
c.1190T>A (p.Leu397Gln)
c.1127T>A (p.Leu376Gln)
c.1238T>A (p.Leu413Gln)
c.1106T>A (p.Leu369Gln)
c.1097T>A (p.Leu366Gln)
c.935T>A (p.Leu312Gln)
c.1049T>A (p.Leu350Gln)
3g.194604424G>ACA437487691TMEM44c.1039C>T (p.Leu347=)
c.1035C>T (p.Gly345=)
c.1180C>T (p.Leu394=)
c.*335C>T (n.*335C>T)
c.231C>T (p.Gly77=)
c.313C>T (p.Leu105=)
c.538C>T (p.Leu180=)
n.85C>T
n.803C>T
c.1189C>T (p.Leu397=)
c.1126C>T (p.Leu376=)
c.1237C>T (p.Leu413=)
c.1105C>T (p.Leu369=)
c.1096C>T (p.Leu366=)
c.934C>T (p.Leu312=)
c.1048C>T (p.Leu350=)
3g.194604424G>CCA355825058TMEM44c.1039C>G (p.Leu347Val)
c.1035C>G (p.Gly345=)
c.1180C>G (p.Leu394Val)
c.*335C>G (n.*335C>G)
c.231C>G (p.Gly77=)
c.313C>G (p.Leu105Val)
c.538C>G (p.Leu180Val)
n.85C>G
n.803C>G
c.1189C>G (p.Leu397Val)
c.1126C>G (p.Leu376Val)
c.1237C>G (p.Leu413Val)
c.1105C>G (p.Leu369Val)
c.1096C>G (p.Leu366Val)
c.934C>G (p.Leu312Val)
c.1048C>G (p.Leu350Val)
3g.194604424G>TCA355825059TMEM44c.1039C>A (p.Leu347Met)
c.1035C>A (p.Gly345=)
c.1180C>A (p.Leu394Met)
c.*335C>A (n.*335C>A)
c.231C>A (p.Gly77=)
c.313C>A (p.Leu105Met)
c.538C>A (p.Leu180Met)
n.85C>A
n.803C>A
c.1189C>A (p.Leu397Met)
c.1126C>A (p.Leu376Met)
c.1237C>A (p.Leu413Met)
c.1105C>A (p.Leu369Met)
c.1096C>A (p.Leu366Met)
c.934C>A (p.Leu312Met)
c.1048C>A (p.Leu350Met)
 gnomAD v4
3g.194604425C>ACA355825060TMEM44c.1038G>T (p.Arg346Ser)
c.1034G>T (p.Gly345Val)
c.1179G>T (p.Arg393Ser)
c.*334G>T (n.*334G>T)
c.230G>T (p.Gly77Val)
c.312G>T (p.Arg104Ser)
c.537G>T (p.Arg179Ser)
n.84G>T
n.802G>T
c.1188G>T (p.Arg396Ser)
c.1125G>T (p.Arg375Ser)
c.1236G>T (p.Arg412Ser)
c.1104G>T (p.Arg368Ser)
c.1095G>T (p.Arg365Ser)
c.933G>T (p.Arg311Ser)
c.1047G>T (p.Arg349Ser)
 gnomAD v4
3g.194604425C>GCA355825061TMEM44c.1038G>C (p.Arg346Ser)
c.1034G>C (p.Gly345Ala)
c.1179G>C (p.Arg393Ser)
c.*334G>C (n.*334G>C)
c.230G>C (p.Gly77Ala)
c.312G>C (p.Arg104Ser)
c.537G>C (p.Arg179Ser)
n.84G>C
n.802G>C
c.1188G>C (p.Arg396Ser)
c.1125G>C (p.Arg375Ser)
c.1236G>C (p.Arg412Ser)
c.1104G>C (p.Arg368Ser)
c.1095G>C (p.Arg365Ser)
c.933G>C (p.Arg311Ser)
c.1047G>C (p.Arg349Ser)
 gnomAD v4
3g.194604425C>TCA355825062TMEM44c.1038G>A (p.Arg346=)
c.1034G>A (p.Gly345Asp)
c.1179G>A (p.Arg393=)
c.*334G>A (n.*334G>A)
c.230G>A (p.Gly77Asp)
c.312G>A (p.Arg104=)
c.537G>A (p.Arg179=)
n.84G>A
n.802G>A
c.1188G>A (p.Arg396=)
c.1125G>A (p.Arg375=)
c.1236G>A (p.Arg412=)
c.1104G>A (p.Arg368=)
c.1095G>A (p.Arg365=)
c.933G>A (p.Arg311=)
c.1047G>A (p.Arg349=)
 gnomAD v4
3g.194604426C>ACA355825063TMEM44c.1037G>T (p.Arg346Met)
c.1033G>T (p.Gly345Cys)
c.1178G>T (p.Arg393Met)
c.*333G>T (n.*333G>T)
c.229G>T (p.Gly77Cys)
c.311G>T (p.Arg104Met)
c.536G>T (p.Arg179Met)
n.83G>T
n.801G>T
c.1187G>T (p.Arg396Met)
c.1124G>T (p.Arg375Met)
c.1235G>T (p.Arg412Met)
c.1103G>T (p.Arg368Met)
c.1094G>T (p.Arg365Met)
c.932G>T (p.Arg311Met)
c.1046G>T (p.Arg349Met)
 gnomAD v4
3g.194604426C=CA1430709403TMEM44c.1037G= (p.Arg346=)
c.1033G= (p.Gly345=)
c.1178G= (p.Arg393=)
c.*333G= (n.*333G=)
c.229G= (p.Gly77=)
c.311G= (p.Arg104=)
c.536G= (p.Arg179=)
n.83G=
n.801G=
c.1187G= (p.Arg396=)
c.1124G= (p.Arg375=)
c.1235G= (p.Arg412=)
c.1103G= (p.Arg368=)
c.1094G= (p.Arg365=)
c.932G= (p.Arg311=)
c.1046G= (p.Arg349=)
3g.194604426C>GCA355825064TMEM44c.1037G>C (p.Arg346Thr)
c.1033G>C (p.Gly345Arg)
c.1178G>C (p.Arg393Thr)
c.*333G>C (n.*333G>C)
c.229G>C (p.Gly77Arg)
c.311G>C (p.Arg104Thr)
c.536G>C (p.Arg179Thr)
n.83G>C
n.801G>C
c.1187G>C (p.Arg396Thr)
c.1124G>C (p.Arg375Thr)
c.1235G>C (p.Arg412Thr)
c.1103G>C (p.Arg368Thr)
c.1094G>C (p.Arg365Thr)
c.932G>C (p.Arg311Thr)
c.1046G>C (p.Arg349Thr)
3g.194604426C>TCA355825065TMEM44c.1037G>A (p.Arg346Lys)
c.1033G>A (p.Gly345Ser)
c.1178G>A (p.Arg393Lys)
c.*333G>A (n.*333G>A)
c.229G>A (p.Gly77Ser)
c.311G>A (p.Arg104Lys)
c.536G>A (p.Arg179Lys)
n.83G>A
n.801G>A
c.1187G>A (p.Arg396Lys)
c.1124G>A (p.Arg375Lys)
c.1235G>A (p.Arg412Lys)
c.1103G>A (p.Arg368Lys)
c.1094G>A (p.Arg365Lys)
c.932G>A (p.Arg311Lys)
c.1046G>A (p.Arg349Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.194604427T>ACA355825067TMEM44c.1036A>T (p.Arg346Trp)
c.1032A>T (p.Pro344=)
c.1177A>T (p.Arg393Trp)
c.*332A>T (n.*332A>T)
c.228A>T (p.Pro76=)
c.310A>T (p.Arg104Trp)
c.535A>T (p.Arg179Trp)
n.82A>T
n.800A>T
c.1186A>T (p.Arg396Trp)
c.1123A>T (p.Arg375Trp)
c.1234A>T (p.Arg412Trp)
c.1102A>T (p.Arg368Trp)
c.1093A>T (p.Arg365Trp)
c.931A>T (p.Arg311Trp)
c.1045A>T (p.Arg349Trp)
 gnomAD v4
3g.194604427T>CCA355825066TMEM44c.1036A>G (p.Arg346Gly)
c.1032A>G (p.Pro344=)
c.1177A>G (p.Arg393Gly)
c.*332A>G (n.*332A>G)
c.228A>G (p.Pro76=)
c.310A>G (p.Arg104Gly)
c.535A>G (p.Arg179Gly)
n.82A>G
n.800A>G
c.1186A>G (p.Arg396Gly)
c.1123A>G (p.Arg375Gly)
c.1234A>G (p.Arg412Gly)
c.1102A>G (p.Arg368Gly)
c.1093A>G (p.Arg365Gly)
c.931A>G (p.Arg311Gly)
c.1045A>G (p.Arg349Gly)
 gnomAD v4
3g.194604427T>GCA437487701TMEM44c.1036A>C (p.Arg346=)
c.1032A>C (p.Pro344=)
c.1177A>C (p.Arg393=)
c.*332A>C (n.*332A>C)
c.228A>C (p.Pro76=)
c.310A>C (p.Arg104=)
c.535A>C (p.Arg179=)
n.82A>C
n.800A>C
c.1186A>C (p.Arg396=)
c.1123A>C (p.Arg375=)
c.1234A>C (p.Arg412=)
c.1102A>C (p.Arg368=)
c.1093A>C (p.Arg365=)
c.931A>C (p.Arg311=)
c.1045A>C (p.Arg349=)
3g.194604428G>ACA355825068TMEM44c.1035C>T (p.Thr345=)
c.1031C>T (p.Pro344Leu)
c.1176C>T (p.Thr392=)
c.*331C>T (n.*331C>T)
c.227C>T (p.Pro76Leu)
c.309C>T (p.Thr103=)
c.534C>T (p.Thr178=)
n.81C>T
n.799C>T
c.1185C>T (p.Thr395=)
c.1122C>T (p.Thr374=)
c.1233C>T (p.Thr411=)
c.1101C>T (p.Thr367=)
c.1092C>T (p.Thr364=)
c.930C>T (p.Thr310=)
c.1044C>T (p.Thr348=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.194604428G>CCA355825069TMEM44c.1035C>G (p.Thr345=)
c.1031C>G (p.Pro344Arg)
c.1176C>G (p.Thr392=)
c.*331C>G (n.*331C>G)
c.227C>G (p.Pro76Arg)
c.309C>G (p.Thr103=)
c.534C>G (p.Thr178=)
n.81C>G
n.799C>G
c.1185C>G (p.Thr395=)
c.1122C>G (p.Thr374=)
c.1233C>G (p.Thr411=)
c.1101C>G (p.Thr367=)
c.1092C>G (p.Thr364=)
c.930C>G (p.Thr310=)
c.1044C>G (p.Thr348=)
3g.194604428G=CA1430709406TMEM44c.1035C= (p.Thr345=)
c.1031C= (p.Pro344=)
c.1176C= (p.Thr392=)
c.*331C= (n.*331C=)
c.227C= (p.Pro76=)
c.309C= (p.Thr103=)
c.534C= (p.Thr178=)
n.81C=
n.799C=
c.1185C= (p.Thr395=)
c.1122C= (p.Thr374=)
c.1233C= (p.Thr411=)
c.1101C= (p.Thr367=)
c.1092C= (p.Thr364=)
c.930C= (p.Thr310=)
c.1044C= (p.Thr348=)
3g.194604428G>TCA355825070TMEM44c.1035C>A (p.Thr345=)
c.1031C>A (p.Pro344Gln)
c.1176C>A (p.Thr392=)
c.*331C>A (n.*331C>A)
c.227C>A (p.Pro76Gln)
c.309C>A (p.Thr103=)
c.534C>A (p.Thr178=)
n.81C>A
n.799C>A
c.1185C>A (p.Thr395=)
c.1122C>A (p.Thr374=)
c.1233C>A (p.Thr411=)
c.1101C>A (p.Thr367=)
c.1092C>A (p.Thr364=)
c.930C>A (p.Thr310=)
c.1044C>A (p.Thr348=)
 gnomAD v4
3g.194604429G>ACA2762556TMEM44c.1034C>T (p.Thr345Ile)
c.1030C>T (p.Pro344Ser)
c.1175C>T (p.Thr392Ile)
c.*330C>T (n.*330C>T)
c.226C>T (p.Pro76Ser)
c.308C>T (p.Thr103Ile)
c.533C>T (p.Thr178Ile)
n.80C>T
n.798C>T
c.1184C>T (p.Thr395Ile)
c.1121C>T (p.Thr374Ile)
c.1232C>T (p.Thr411Ile)
c.1100C>T (p.Thr367Ile)
c.1091C>T (p.Thr364Ile)
c.929C>T (p.Thr310Ile)
c.1043C>T (p.Thr348Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.194604429G>CCA355825071TMEM44c.1034C>G (p.Thr345Ser)
c.1030C>G (p.Pro344Ala)
c.1175C>G (p.Thr392Ser)
c.*330C>G (n.*330C>G)
c.226C>G (p.Pro76Ala)
c.308C>G (p.Thr103Ser)
c.533C>G (p.Thr178Ser)
n.80C>G
n.798C>G
c.1184C>G (p.Thr395Ser)
c.1121C>G (p.Thr374Ser)
c.1232C>G (p.Thr411Ser)
c.1100C>G (p.Thr367Ser)
c.1091C>G (p.Thr364Ser)
c.929C>G (p.Thr310Ser)
c.1043C>G (p.Thr348Ser)
3g.194604429G=CA1430709409TMEM44c.1034C= (p.Thr345=)
c.1030C= (p.Pro344=)
c.1175C= (p.Thr392=)
c.*330C= (n.*330C=)
c.226C= (p.Pro76=)
c.308C= (p.Thr103=)
c.533C= (p.Thr178=)
n.80C=
n.798C=
c.1184C= (p.Thr395=)
c.1121C= (p.Thr374=)
c.1232C= (p.Thr411=)
c.1100C= (p.Thr367=)
c.1091C= (p.Thr364=)
c.929C= (p.Thr310=)
c.1043C= (p.Thr348=)
3g.194604429G>TCA355825072TMEM44c.1034C>A (p.Thr345Asn)
c.1030C>A (p.Pro344Thr)
c.1175C>A (p.Thr392Asn)
c.*330C>A (n.*330C>A)
c.226C>A (p.Pro76Thr)
c.308C>A (p.Thr103Asn)
c.533C>A (p.Thr178Asn)
n.80C>A
n.798C>A
c.1184C>A (p.Thr395Asn)
c.1121C>A (p.Thr374Asn)
c.1232C>A (p.Thr411Asn)
c.1100C>A (p.Thr367Asn)
c.1091C>A (p.Thr364Asn)
c.929C>A (p.Thr310Asn)
c.1043C>A (p.Thr348Asn)
 gnomAD v4
3g.194604430T>ACA355825074TMEM44c.1033A>T (p.Thr345Ser)
c.1029A>T (p.Pro343=)
c.1174A>T (p.Thr392Ser)
c.*329A>T (n.*329A>T)
c.225A>T (p.Pro75=)
c.307A>T (p.Thr103Ser)
c.532A>T (p.Thr178Ser)
n.79A>T
n.797A>T
c.1183A>T (p.Thr395Ser)
c.1120A>T (p.Thr374Ser)
c.1231A>T (p.Thr411Ser)
c.1099A>T (p.Thr367Ser)
c.1090A>T (p.Thr364Ser)
c.928A>T (p.Thr310Ser)
c.1042A>T (p.Thr348Ser)
3g.194604430T>CCA2762557TMEM44c.1033A>G (p.Thr345Ala)
c.1029A>G (p.Pro343=)
c.1174A>G (p.Thr392Ala)
c.*329A>G (n.*329A>G)
c.225A>G (p.Pro75=)
c.307A>G (p.Thr103Ala)
c.532A>G (p.Thr178Ala)
n.79A>G
n.797A>G
c.1183A>G (p.Thr395Ala)
c.1120A>G (p.Thr374Ala)
c.1231A>G (p.Thr411Ala)
c.1099A>G (p.Thr367Ala)
c.1090A>G (p.Thr364Ala)
c.928A>G (p.Thr310Ala)
c.1042A>G (p.Thr348Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.194604430T>GCA355825073TMEM44c.1033A>C (p.Thr345Pro)
c.1029A>C (p.Pro343=)
c.1174A>C (p.Thr392Pro)
c.*329A>C (n.*329A>C)
c.225A>C (p.Pro75=)
c.307A>C (p.Thr103Pro)
c.532A>C (p.Thr178Pro)
n.79A>C
n.797A>C
c.1183A>C (p.Thr395Pro)
c.1120A>C (p.Thr374Pro)
c.1231A>C (p.Thr411Pro)
c.1099A>C (p.Thr367Pro)
c.1090A>C (p.Thr364Pro)
c.928A>C (p.Thr310Pro)
c.1042A>C (p.Thr348Pro)
3g.194604430T=CA1430709413TMEM44c.1033A= (p.Thr345=)
c.1029A= (p.Pro343=)
c.1174A= (p.Thr392=)
c.*329A= (n.*329A=)
c.225A= (p.Pro75=)
c.307A= (p.Thr103=)
c.532A= (p.Thr178=)
n.79A=
n.797A=
c.1183A= (p.Thr395=)
c.1120A= (p.Thr374=)
c.1231A= (p.Thr411=)
c.1099A= (p.Thr367=)
c.1090A= (p.Thr364=)
c.928A= (p.Thr310=)
c.1042A= (p.Thr348=)
3g.194604431G>ACA355825075TMEM44c.1032C>T (p.Ala344=)
c.1028C>T (p.Pro343Leu)
c.1173C>T (p.Ala391=)
c.*328C>T (n.*328C>T)
c.224C>T (p.Pro75Leu)
c.306C>T (p.Ala102=)
c.531C>T (p.Ala177=)
n.78C>T
n.796C>T
c.1182C>T (p.Ala394=)
c.1119C>T (p.Ala373=)
c.1230C>T (p.Ala410=)
c.1098C>T (p.Ala366=)
c.1089C>T (p.Ala363=)
c.927C>T (p.Ala309=)
c.1041C>T (p.Ala347=)
 dbSNP gnomAD v2 gnomAD v4
3g.194604431G>CCA355825076TMEM44c.1032C>G (p.Ala344=)
c.1028C>G (p.Pro343Arg)
c.1173C>G (p.Ala391=)
c.*328C>G (n.*328C>G)
c.224C>G (p.Pro75Arg)
c.306C>G (p.Ala102=)
c.531C>G (p.Ala177=)
n.78C>G
n.796C>G
c.1182C>G (p.Ala394=)
c.1119C>G (p.Ala373=)
c.1230C>G (p.Ala410=)
c.1098C>G (p.Ala366=)
c.1089C>G (p.Ala363=)
c.927C>G (p.Ala309=)
c.1041C>G (p.Ala347=)
3g.194604431G=CA1430709415TMEM44c.1032C= (p.Ala344=)
c.1028C= (p.Pro343=)
c.1173C= (p.Ala391=)
c.*328C= (n.*328C=)
c.224C= (p.Pro75=)
c.306C= (p.Ala102=)
c.531C= (p.Ala177=)
n.78C=
n.796C=
c.1182C= (p.Ala394=)
c.1119C= (p.Ala373=)
c.1230C= (p.Ala410=)
c.1098C= (p.Ala366=)
c.1089C= (p.Ala363=)
c.927C= (p.Ala309=)
c.1041C= (p.Ala347=)
3g.194604431G>TCA355825077TMEM44c.1032C>A (p.Ala344=)
c.1028C>A (p.Pro343Gln)
c.1173C>A (p.Ala391=)
c.*328C>A (n.*328C>A)
c.224C>A (p.Pro75Gln)
c.306C>A (p.Ala102=)
c.531C>A (p.Ala177=)
n.78C>A
n.796C>A
c.1182C>A (p.Ala394=)
c.1119C>A (p.Ala373=)
c.1230C>A (p.Ala410=)
c.1098C>A (p.Ala366=)
c.1089C>A (p.Ala363=)
c.927C>A (p.Ala309=)
c.1041C>A (p.Ala347=)
3g.194604432G>ACA355825078TMEM44c.1031C>T (p.Ala344Val)
c.1027C>T (p.Pro343Ser)
c.1172C>T (p.Ala391Val)
c.*327C>T (n.*327C>T)
c.223C>T (p.Pro75Ser)
c.305C>T (p.Ala102Val)
c.530C>T (p.Ala177Val)
n.77C>T
n.795C>T
c.1181C>T (p.Ala394Val)
c.1118C>T (p.Ala373Val)
c.1229C>T (p.Ala410Val)
c.1097C>T (p.Ala366Val)
c.1088C>T (p.Ala363Val)
c.926C>T (p.Ala309Val)
c.1040C>T (p.Ala347Val)
 gnomAD v4
3g.194604432G>CCA355825079TMEM44c.1031C>G (p.Ala344Gly)
c.1027C>G (p.Pro343Ala)
c.1172C>G (p.Ala391Gly)
c.*327C>G (n.*327C>G)
c.223C>G (p.Pro75Ala)
c.305C>G (p.Ala102Gly)
c.530C>G (p.Ala177Gly)
n.77C>G
n.795C>G
c.1181C>G (p.Ala394Gly)
c.1118C>G (p.Ala373Gly)
c.1229C>G (p.Ala410Gly)
c.1097C>G (p.Ala366Gly)
c.1088C>G (p.Ala363Gly)
c.926C>G (p.Ala309Gly)
c.1040C>G (p.Ala347Gly)
3g.194604432G>TCA355825080TMEM44c.1031C>A (p.Ala344Asp)
c.1027C>A (p.Pro343Thr)
c.1172C>A (p.Ala391Asp)
c.*327C>A (n.*327C>A)
c.223C>A (p.Pro75Thr)
c.305C>A (p.Ala102Asp)
c.530C>A (p.Ala177Asp)
n.77C>A
n.795C>A
c.1181C>A (p.Ala394Asp)
c.1118C>A (p.Ala373Asp)
c.1229C>A (p.Ala410Asp)
c.1097C>A (p.Ala366Asp)
c.1088C>A (p.Ala363Asp)
c.926C>A (p.Ala309Asp)
c.1040C>A (p.Ala347Asp)
 gnomAD v4
3g.194604433C>ACA355825081TMEM44c.1030G>T (p.Ala344Ser)
c.1026G>T (p.Val342=)
c.1171G>T (p.Ala391Ser)
c.*326G>T (n.*326G>T)
c.222G>T (p.Val74=)
c.304G>T (p.Ala102Ser)
c.529G>T (p.Ala177Ser)
n.76G>T
n.794G>T
c.1180G>T (p.Ala394Ser)
c.1117G>T (p.Ala373Ser)
c.1228G>T (p.Ala410Ser)
c.1096G>T (p.Ala366Ser)
c.1087G>T (p.Ala363Ser)
c.925G>T (p.Ala309Ser)
c.1039G>T (p.Ala347Ser)
 gnomAD v4
3g.194604433C=CA1430709417TMEM44c.1030G= (p.Ala344=)
c.1026G= (p.Val342=)
c.1171G= (p.Ala391=)
c.*326G= (n.*326G=)
c.222G= (p.Val74=)
c.304G= (p.Ala102=)
c.529G= (p.Ala177=)
n.76G=
n.794G=
c.1180G= (p.Ala394=)
c.1117G= (p.Ala373=)
c.1228G= (p.Ala410=)
c.1096G= (p.Ala366=)
c.1087G= (p.Ala363=)
c.925G= (p.Ala309=)
c.1039G= (p.Ala347=)
3g.194604433C>GCA355825083TMEM44c.1030G>C (p.Ala344Pro)
c.1026G>C (p.Val342=)
c.1171G>C (p.Ala391Pro)
c.*326G>C (n.*326G>C)
c.222G>C (p.Val74=)
c.304G>C (p.Ala102Pro)
c.529G>C (p.Ala177Pro)
n.76G>C
n.794G>C
c.1180G>C (p.Ala394Pro)
c.1117G>C (p.Ala373Pro)
c.1228G>C (p.Ala410Pro)
c.1096G>C (p.Ala366Pro)
c.1087G>C (p.Ala363Pro)
c.925G>C (p.Ala309Pro)
c.1039G>C (p.Ala347Pro)
3g.194604433C>TCA355825082TMEM44c.1030G>A (p.Ala344Thr)
c.1026G>A (p.Val342=)
c.1171G>A (p.Ala391Thr)
c.*326G>A (n.*326G>A)
c.222G>A (p.Val74=)
c.304G>A (p.Ala102Thr)
c.529G>A (p.Ala177Thr)
n.76G>A
n.794G>A
c.1180G>A (p.Ala394Thr)
c.1117G>A (p.Ala373Thr)
c.1228G>A (p.Ala410Thr)
c.1096G>A (p.Ala366Thr)
c.1087G>A (p.Ala363Thr)
c.925G>A (p.Ala309Thr)
c.1039G>A (p.Ala347Thr)
 dbSNP gnomAD v2 gnomAD v4
3g.194604434A>CCA355825084TMEM44c.1029T>G (p.Ser343Arg)
c.1025T>G (p.Val342Gly)
c.1170T>G (p.Ser390Arg)
c.*325T>G (n.*325T>G)
c.221T>G (p.Val74Gly)
c.303T>G (p.Ser101Arg)
c.528T>G (p.Ser176Arg)
n.75T>G
n.793T>G
c.1179T>G (p.Ser393Arg)
c.1116T>G (p.Ser372Arg)
c.1227T>G (p.Ser409Arg)
c.1095T>G (p.Ser365Arg)
c.1086T>G (p.Ser362Arg)
c.924T>G (p.Ser308Arg)
c.1038T>G (p.Ser346Arg)
3g.194604434A>GCA355825085TMEM44c.1029T>C (p.Ser343=)
c.1025T>C (p.Val342Ala)
c.1170T>C (p.Ser390=)
c.*325T>C (n.*325T>C)
c.221T>C (p.Val74Ala)
c.303T>C (p.Ser101=)
c.528T>C (p.Ser176=)
n.75T>C
n.793T>C
c.1179T>C (p.Ser393=)
c.1116T>C (p.Ser372=)
c.1227T>C (p.Ser409=)
c.1095T>C (p.Ser365=)
c.1086T>C (p.Ser362=)
c.924T>C (p.Ser308=)
c.1038T>C (p.Ser346=)
 gnomAD v4
3g.194604434A>TCA355825086TMEM44c.1029T>A (p.Ser343Arg)
c.1025T>A (p.Val342Glu)
c.1170T>A (p.Ser390Arg)
c.*325T>A (n.*325T>A)
c.221T>A (p.Val74Glu)
c.303T>A (p.Ser101Arg)
c.528T>A (p.Ser176Arg)
n.75T>A
n.793T>A
c.1179T>A (p.Ser393Arg)
c.1116T>A (p.Ser372Arg)
c.1227T>A (p.Ser409Arg)
c.1095T>A (p.Ser365Arg)
c.1086T>A (p.Ser362Arg)
c.924T>A (p.Ser308Arg)
c.1038T>A (p.Ser346Arg)
 gnomAD v4
3g.194604435C>ACA355825087TMEM44c.1028G>T (p.Ser343Ile)
c.1024G>T (p.Val342Leu)
c.1169G>T (p.Ser390Ile)
c.*324G>T (n.*324G>T)
c.220G>T (p.Val74Leu)
c.302G>T (p.Ser101Ile)
c.527G>T (p.Ser176Ile)
n.74G>T
n.792G>T
c.1178G>T (p.Ser393Ile)
c.1115G>T (p.Ser372Ile)
c.1226G>T (p.Ser409Ile)
c.1094G>T (p.Ser365Ile)
c.1085G>T (p.Ser362Ile)
c.923G>T (p.Ser308Ile)
c.1037G>T (p.Ser346Ile)
3g.194604435C>GCA355825088TMEM44c.1028G>C (p.Ser343Thr)
c.1024G>C (p.Val342Leu)
c.1169G>C (p.Ser390Thr)
c.*324G>C (n.*324G>C)
c.220G>C (p.Val74Leu)
c.302G>C (p.Ser101Thr)
c.527G>C (p.Ser176Thr)
n.74G>C
n.792G>C
c.1178G>C (p.Ser393Thr)
c.1115G>C (p.Ser372Thr)
c.1226G>C (p.Ser409Thr)
c.1094G>C (p.Ser365Thr)
c.1085G>C (p.Ser362Thr)
c.923G>C (p.Ser308Thr)
c.1037G>C (p.Ser346Thr)
3g.194604435C>TCA355825089TMEM44c.1028G>A (p.Ser343Asn)
c.1024G>A (p.Val342Met)
c.1169G>A (p.Ser390Asn)
c.*324G>A (n.*324G>A)
c.220G>A (p.Val74Met)
c.302G>A (p.Ser101Asn)
c.527G>A (p.Ser176Asn)
n.74G>A
n.792G>A
c.1178G>A (p.Ser393Asn)
c.1115G>A (p.Ser372Asn)
c.1226G>A (p.Ser409Asn)
c.1094G>A (p.Ser365Asn)
c.1085G>A (p.Ser362Asn)
c.923G>A (p.Ser308Asn)
c.1037G>A (p.Ser346Asn)
 gnomAD v4
3g.194604436T>ACA355825090TMEM44c.1027A>T (p.Ser343Cys)
c.1023A>T (p.Ala341=)
c.1168A>T (p.Ser390Cys)
c.*323A>T (n.*323A>T)
c.219A>T (p.Ala73=)
c.301A>T (p.Ser101Cys)
c.526A>T (p.Ser176Cys)
n.73A>T
n.791A>T
c.1177A>T (p.Ser393Cys)
c.1114A>T (p.Ser372Cys)
c.1225A>T (p.Ser409Cys)
c.1093A>T (p.Ser365Cys)
c.1084A>T (p.Ser362Cys)
c.922A>T (p.Ser308Cys)
c.1036A>T (p.Ser346Cys)
 gnomAD v4
3g.194604436T>CCA355825091TMEM44c.1027A>G (p.Ser343Gly)
c.1023A>G (p.Ala341=)
c.1168A>G (p.Ser390Gly)
c.*323A>G (n.*323A>G)
c.219A>G (p.Ala73=)
c.301A>G (p.Ser101Gly)
c.526A>G (p.Ser176Gly)
n.73A>G
n.791A>G
c.1177A>G (p.Ser393Gly)
c.1114A>G (p.Ser372Gly)
c.1225A>G (p.Ser409Gly)
c.1093A>G (p.Ser365Gly)
c.1084A>G (p.Ser362Gly)
c.922A>G (p.Ser308Gly)
c.1036A>G (p.Ser346Gly)
 gnomAD v4
3g.194604436T>GCA355825092TMEM44c.1027A>C (p.Ser343Arg)
c.1023A>C (p.Ala341=)
c.1168A>C (p.Ser390Arg)
c.*323A>C (n.*323A>C)
c.219A>C (p.Ala73=)
c.301A>C (p.Ser101Arg)
c.526A>C (p.Ser176Arg)
n.73A>C
n.791A>C
c.1177A>C (p.Ser393Arg)
c.1114A>C (p.Ser372Arg)
c.1225A>C (p.Ser409Arg)
c.1093A>C (p.Ser365Arg)
c.1084A>C (p.Ser362Arg)
c.922A>C (p.Ser308Arg)
c.1036A>C (p.Ser346Arg)
3g.194604437G>ACA355825093TMEM44c.1026C>T (p.Cys342=)
c.1022C>T (p.Ala341Val)
c.1167C>T (p.Cys389=)
c.*322C>T (n.*322C>T)
c.218C>T (p.Ala73Val)
c.300C>T (p.Cys100=)
c.525C>T (p.Cys175=)
n.72C>T
n.790C>T
c.1176C>T (p.Cys392=)
c.1113C>T (p.Cys371=)
c.1224C>T (p.Cys408=)
c.1092C>T (p.Cys364=)
c.1083C>T (p.Cys361=)
c.921C>T (p.Cys307=)
c.1035C>T (p.Cys345=)
 gnomAD v4
3g.194604437G>CCA355825094TMEM44c.1026C>G (p.Cys342Trp)
c.1022C>G (p.Ala341Gly)
c.1167C>G (p.Cys389Trp)
c.*322C>G (n.*322C>G)
c.218C>G (p.Ala73Gly)
c.300C>G (p.Cys100Trp)
c.525C>G (p.Cys175Trp)
n.72C>G
n.790C>G
c.1176C>G (p.Cys392Trp)
c.1113C>G (p.Cys371Trp)
c.1224C>G (p.Cys408Trp)
c.1092C>G (p.Cys364Trp)
c.1083C>G (p.Cys361Trp)
c.921C>G (p.Cys307Trp)
c.1035C>G (p.Cys345Trp)
3g.194604437G>TCA355825095TMEM44c.1026C>A (p.Cys342Ter)
c.1022C>A (p.Ala341Glu)
c.1167C>A (p.Cys389Ter)
c.*322C>A (n.*322C>A)
c.218C>A (p.Ala73Glu)
c.300C>A (p.Cys100Ter)
c.525C>A (p.Cys175Ter)
n.72C>A
n.790C>A
c.1176C>A (p.Cys392Ter)
c.1113C>A (p.Cys371Ter)
c.1224C>A (p.Cys408Ter)
c.1092C>A (p.Cys364Ter)
c.1083C>A (p.Cys361Ter)
c.921C>A (p.Cys307Ter)
c.1035C>A (p.Cys345Ter)
3g.194604438C>ACA355825098TMEM44c.1025G>T (p.Cys342Phe)
c.1021G>T (p.Ala341Ser)
c.1166G>T (p.Cys389Phe)
c.*321G>T (n.*321G>T)
c.217G>T (p.Ala73Ser)
c.299G>T (p.Cys100Phe)
c.524G>T (p.Cys175Phe)
n.71G>T
n.789G>T
c.1175G>T (p.Cys392Phe)
c.1112G>T (p.Cys371Phe)
c.1223G>T (p.Cys408Phe)
c.1091G>T (p.Cys364Phe)
c.1082G>T (p.Cys361Phe)
c.920G>T (p.Cys307Phe)
c.1034G>T (p.Cys345Phe)
 gnomAD v4
3g.194604438C=CA1430709419TMEM44c.1025G= (p.Cys342=)
c.1021G= (p.Ala341=)
c.1166G= (p.Cys389=)
c.*321G= (n.*321G=)
c.217G= (p.Ala73=)
c.299G= (p.Cys100=)
c.524G= (p.Cys175=)
n.71G=
n.789G=
c.1175G= (p.Cys392=)
c.1112G= (p.Cys371=)
c.1223G= (p.Cys408=)
c.1091G= (p.Cys364=)
c.1082G= (p.Cys361=)
c.920G= (p.Cys307=)
c.1034G= (p.Cys345=)
3g.194604438C>GCA355825097TMEM44c.1025G>C (p.Cys342Ser)
c.1021G>C (p.Ala341Pro)
c.1166G>C (p.Cys389Ser)
c.*321G>C (n.*321G>C)
c.217G>C (p.Ala73Pro)
c.299G>C (p.Cys100Ser)
c.524G>C (p.Cys175Ser)
n.71G>C
n.789G>C
c.1175G>C (p.Cys392Ser)
c.1112G>C (p.Cys371Ser)
c.1223G>C (p.Cys408Ser)
c.1091G>C (p.Cys364Ser)
c.1082G>C (p.Cys361Ser)
c.920G>C (p.Cys307Ser)
c.1034G>C (p.Cys345Ser)
3g.194604438C>TCA355825096TMEM44c.1025G>A (p.Cys342Tyr)
c.1021G>A (p.Ala341Thr)
c.1166G>A (p.Cys389Tyr)
c.*321G>A (n.*321G>A)
c.217G>A (p.Ala73Thr)
c.299G>A (p.Cys100Tyr)
c.524G>A (p.Cys175Tyr)
n.71G>A
n.789G>A
c.1175G>A (p.Cys392Tyr)
c.1112G>A (p.Cys371Tyr)
c.1223G>A (p.Cys408Tyr)
c.1091G>A (p.Cys364Tyr)
c.1082G>A (p.Cys361Tyr)
c.920G>A (p.Cys307Tyr)
c.1034G>A (p.Cys345Tyr)
 dbSNP gnomAD v2 gnomAD v4
3g.194604439A>CCA355825099TMEM44c.1024T>G (p.Cys342Gly)
c.1020T>G (p.Ala340=)
c.1165T>G (p.Cys389Gly)
c.*320T>G (n.*320T>G)
c.216T>G (p.Ala72=)
c.298T>G (p.Cys100Gly)
c.523T>G (p.Cys175Gly)
n.70T>G
n.788T>G
c.1174T>G (p.Cys392Gly)
c.1111T>G (p.Cys371Gly)
c.1222T>G (p.Cys408Gly)
c.1090T>G (p.Cys364Gly)
c.1081T>G (p.Cys361Gly)
c.919T>G (p.Cys307Gly)
c.1033T>G (p.Cys345Gly)
3g.194604439A>GCA355825101TMEM44c.1024T>C (p.Cys342Arg)
c.1020T>C (p.Ala340=)
c.1165T>C (p.Cys389Arg)
c.*320T>C (n.*320T>C)
c.216T>C (p.Ala72=)
c.298T>C (p.Cys100Arg)
c.523T>C (p.Cys175Arg)
n.70T>C
n.788T>C
c.1174T>C (p.Cys392Arg)
c.1111T>C (p.Cys371Arg)
c.1222T>C (p.Cys408Arg)
c.1090T>C (p.Cys364Arg)
c.1081T>C (p.Cys361Arg)
c.919T>C (p.Cys307Arg)
c.1033T>C (p.Cys345Arg)
 gnomAD v4
3g.194604439A>TCA355825100TMEM44c.1024T>A (p.Cys342Ser)
c.1020T>A (p.Ala340=)
c.1165T>A (p.Cys389Ser)
c.*320T>A (n.*320T>A)
c.216T>A (p.Ala72=)
c.298T>A (p.Cys100Ser)
c.523T>A (p.Cys175Ser)
n.70T>A
n.788T>A
c.1174T>A (p.Cys392Ser)
c.1111T>A (p.Cys371Ser)
c.1222T>A (p.Cys408Ser)
c.1090T>A (p.Cys364Ser)
c.1081T>A (p.Cys361Ser)
c.919T>A (p.Cys307Ser)
c.1033T>A (p.Cys345Ser)
3g.194604440G>ACA355825102TMEM44c.1023C>T (p.Gly341=)
c.1019C>T (p.Ala340Val)
c.1164C>T (p.Gly388=)
c.*319C>T (n.*319C>T)
c.215C>T (p.Ala72Val)
c.297C>T (p.Gly99=)
c.522C>T (p.Gly174=)
n.69C>T
n.787C>T
c.1173C>T (p.Gly391=)
c.1110C>T (p.Gly370=)
c.1221C>T (p.Gly407=)
c.1089C>T (p.Gly363=)
c.1080C>T (p.Gly360=)
c.918C>T (p.Gly306=)
c.1032C>T (p.Gly344=)
 dbSNP gnomAD v3 gnomAD v4
3g.194604440G>CCA355825104TMEM44c.1023C>G (p.Gly341=)
c.1019C>G (p.Ala340Gly)
c.1164C>G (p.Gly388=)
c.*319C>G (n.*319C>G)
c.215C>G (p.Ala72Gly)
c.297C>G (p.Gly99=)
c.522C>G (p.Gly174=)
n.69C>G
n.787C>G
c.1173C>G (p.Gly391=)
c.1110C>G (p.Gly370=)
c.1221C>G (p.Gly407=)
c.1089C>G (p.Gly363=)
c.1080C>G (p.Gly360=)
c.918C>G (p.Gly306=)
c.1032C>G (p.Gly344=)
3g.194604440G=CA1430709423TMEM44c.1023C= (p.Gly341=)
c.1019C= (p.Ala340=)
c.1164C= (p.Gly388=)
c.*319C= (n.*319C=)
c.215C= (p.Ala72=)
c.297C= (p.Gly99=)
c.522C= (p.Gly174=)
n.69C=
n.787C=
c.1173C= (p.Gly391=)
c.1110C= (p.Gly370=)
c.1221C= (p.Gly407=)
c.1089C= (p.Gly363=)
c.1080C= (p.Gly360=)
c.918C= (p.Gly306=)
c.1032C= (p.Gly344=)
3g.194604440G>TCA355825103TMEM44c.1023C>A (p.Gly341=)
c.1019C>A (p.Ala340Asp)
c.1164C>A (p.Gly388=)
c.*319C>A (n.*319C>A)
c.215C>A (p.Ala72Asp)
c.297C>A (p.Gly99=)
c.522C>A (p.Gly174=)
n.69C>A
n.787C>A
c.1173C>A (p.Gly391=)
c.1110C>A (p.Gly370=)
c.1221C>A (p.Gly407=)
c.1089C>A (p.Gly363=)
c.1080C>A (p.Gly360=)
c.918C>A (p.Gly306=)
c.1032C>A (p.Gly344=)
3g.194604441C>ACA355825105TMEM44c.1022G>T (p.Gly341Val)
c.1018G>T (p.Ala340Ser)
c.1163G>T (p.Gly388Val)
c.*318G>T (n.*318G>T)
c.214G>T (p.Ala72Ser)
c.296G>T (p.Gly99Val)
c.521G>T (p.Gly174Val)
n.68G>T
n.786G>T
c.1172G>T (p.Gly391Val)
c.1109G>T (p.Gly370Val)
c.1220G>T (p.Gly407Val)
c.1088G>T (p.Gly363Val)
c.1079G>T (p.Gly360Val)
c.917G>T (p.Gly306Val)
c.1031G>T (p.Gly344Val)
 gnomAD v4
3g.194604441C=CA1430709426TMEM44c.1022G= (p.Gly341=)
c.1018G= (p.Ala340=)
c.1163G= (p.Gly388=)
c.*318G= (n.*318G=)
c.214G= (p.Ala72=)
c.296G= (p.Gly99=)
c.521G= (p.Gly174=)
n.68G=
n.786G=
c.1172G= (p.Gly391=)
c.1109G= (p.Gly370=)
c.1220G= (p.Gly407=)
c.1088G= (p.Gly363=)
c.1079G= (p.Gly360=)
c.917G= (p.Gly306=)
c.1031G= (p.Gly344=)
3g.194604441C>GCA355825107TMEM44c.1022G>C (p.Gly341Ala)
c.1018G>C (p.Ala340Pro)
c.1163G>C (p.Gly388Ala)
c.*318G>C (n.*318G>C)
c.214G>C (p.Ala72Pro)
c.296G>C (p.Gly99Ala)
c.521G>C (p.Gly174Ala)
n.68G>C
n.786G>C
c.1172G>C (p.Gly391Ala)
c.1109G>C (p.Gly370Ala)
c.1220G>C (p.Gly407Ala)
c.1088G>C (p.Gly363Ala)
c.1079G>C (p.Gly360Ala)
c.917G>C (p.Gly306Ala)
c.1031G>C (p.Gly344Ala)
3g.194604441C>TCA90641528TMEM44c.1022G>A (p.Gly341Asp)
c.1018G>A (p.Ala340Thr)
c.1163G>A (p.Gly388Asp)
c.*318G>A (n.*318G>A)
c.214G>A (p.Ala72Thr)
c.296G>A (p.Gly99Asp)
c.521G>A (p.Gly174Asp)
n.68G>A
n.786G>A
c.1172G>A (p.Gly391Asp)
c.1109G>A (p.Gly370Asp)
c.1220G>A (p.Gly407Asp)
c.1088G>A (p.Gly363Asp)
c.1079G>A (p.Gly360Asp)
c.917G>A (p.Gly306Asp)
c.1031G>A (p.Gly344Asp)
 dbSNP gnomAD v3 gnomAD v4
3g.194604441_194604443dupCA1430709427TMEM44c.1020_1022dup (p.Gly341_Cys342insGly)
c.1018-2_1018dup
c.1161_1163dup (p.Gly388_Cys389insGly)
c.*316_*318dup (n.*316_*318dup)
c.214-2_214dup
c.294_296dup (p.Gly99_Cys100insGly)
c.519_521dup (p.Gly174_Cys175insGly)
n.66_68dup
n.784_786dup
c.1170_1172dup (p.Gly391_Cys392insGly)
c.1107_1109dup (p.Gly370_Cys371insGly)
c.1218_1220dup (p.Gly407_Cys408insGly)
c.1086_1088dup (p.Gly363_Cys364insGly)
c.1077_1079dup (p.Gly360_Cys361insGly)
c.915_917dup (p.Gly306_Cys307insGly)
c.1029_1031dup (p.Gly344_Cys345insGly)
 dbSNP gnomAD v4
3g.194604442C>ACA355825108TMEM44c.1021G>T (p.Gly341Cys)
c.1018-1G>T (n.1018-1G>T)
c.1162G>T (p.Gly388Cys)
c.*317G>T (n.*317G>T)
c.214-1G>T (n.214-1G>T)
c.295G>T (p.Gly99Cys)
c.520G>T (p.Gly174Cys)
n.67G>T
n.785G>T
c.1171G>T (p.Gly391Cys)
c.1108G>T (p.Gly370Cys)
c.1219G>T (p.Gly407Cys)
c.1087G>T (p.Gly363Cys)
c.1078G>T (p.Gly360Cys)
c.916G>T (p.Gly306Cys)
c.1030G>T (p.Gly344Cys)
 gnomAD v4
3g.194604442C=CA1430709428TMEM44c.1021G= (p.Gly341=)
c.1018-1G= (n.1018-1G=)
c.1162G= (p.Gly388=)
c.*317G= (n.*317G=)
c.214-1G= (n.214-1G=)
c.295G= (p.Gly99=)
c.520G= (p.Gly174=)
n.67G=
n.785G=
c.1171G= (p.Gly391=)
c.1108G= (p.Gly370=)
c.1219G= (p.Gly407=)
c.1087G= (p.Gly363=)
c.1078G= (p.Gly360=)
c.916G= (p.Gly306=)
c.1030G= (p.Gly344=)
3g.194604442C>GCA355825110TMEM44c.1021G>C (p.Gly341Arg)
c.1018-1G>C (n.1018-1G>C)
c.1162G>C (p.Gly388Arg)
c.*317G>C (n.*317G>C)
c.214-1G>C (n.214-1G>C)
c.295G>C (p.Gly99Arg)
c.520G>C (p.Gly174Arg)
n.67G>C
n.785G>C
c.1171G>C (p.Gly391Arg)
c.1108G>C (p.Gly370Arg)
c.1219G>C (p.Gly407Arg)
c.1087G>C (p.Gly363Arg)
c.1078G>C (p.Gly360Arg)
c.916G>C (p.Gly306Arg)
c.1030G>C (p.Gly344Arg)
 dbSNP gnomAD v2
3g.194604442C>TCA355825109TMEM44c.1021G>A (p.Gly341Ser)
c.1018-1G>A (n.1018-1G>A)
c.1162G>A (p.Gly388Ser)
c.*317G>A (n.*317G>A)
c.214-1G>A (n.214-1G>A)
c.295G>A (p.Gly99Ser)
c.520G>A (p.Gly174Ser)
n.67G>A
n.785G>A
c.1171G>A (p.Gly391Ser)
c.1108G>A (p.Gly370Ser)
c.1219G>A (p.Gly407Ser)
c.1087G>A (p.Gly363Ser)
c.1078G>A (p.Gly360Ser)
c.916G>A (p.Gly306Ser)
c.1030G>A (p.Gly344Ser)
 dbSNP gnomAD v2 gnomAD v4
3g.194604443T>ACA355825111TMEM44c.1020A>T (p.Ala340=)
c.1018-2A>T (n.1018-2A>T)
c.1161A>T (p.Ala387=)
c.*316A>T (n.*316A>T)
c.214-2A>T (n.214-2A>T)
c.294A>T (p.Ala98=)
c.519A>T (p.Ala173=)
n.66A>T
n.784A>T
c.1170A>T (p.Ala390=)
c.1107A>T (p.Ala369=)
c.1218A>T (p.Ala406=)
c.1086A>T (p.Ala362=)
c.1077A>T (p.Ala359=)
c.915A>T (p.Ala305=)
c.1029A>T (p.Ala343=)
3g.194604443T>CCA355825112TMEM44c.1020A>G (p.Ala340=)
c.1018-2A>G (n.1018-2A>G)
c.1161A>G (p.Ala387=)
c.*316A>G (n.*316A>G)
c.214-2A>G (n.214-2A>G)
c.294A>G (p.Ala98=)
c.519A>G (p.Ala173=)
n.66A>G
n.784A>G
c.1170A>G (p.Ala390=)
c.1107A>G (p.Ala369=)
c.1218A>G (p.Ala406=)
c.1086A>G (p.Ala362=)
c.1077A>G (p.Ala359=)
c.915A>G (p.Ala305=)
c.1029A>G (p.Ala343=)
 dbSNP gnomAD v2 gnomAD v4
3g.194604443T>GCA355825113TMEM44c.1020A>C (p.Ala340=)
c.1018-2A>C (n.1018-2A>C)
c.1161A>C (p.Ala387=)
c.*316A>C (n.*316A>C)
c.214-2A>C (n.214-2A>C)
c.294A>C (p.Ala98=)
c.519A>C (p.Ala173=)
n.66A>C
n.784A>C
c.1170A>C (p.Ala390=)
c.1107A>C (p.Ala369=)
c.1218A>C (p.Ala406=)
c.1086A>C (p.Ala362=)
c.1077A>C (p.Ala359=)
c.915A>C (p.Ala305=)
c.1029A>C (p.Ala343=)
3g.194604443T=CA1430709429TMEM44c.1020A= (p.Ala340=)
c.1018-2A= (n.1018-2A=)
c.1161A= (p.Ala387=)
c.*316A= (n.*316A=)
c.214-2A= (n.214-2A=)
c.294A= (p.Ala98=)
c.519A= (p.Ala173=)
n.66A=
n.784A=
c.1170A= (p.Ala390=)
c.1107A= (p.Ala369=)
c.1218A= (p.Ala406=)
c.1086A= (p.Ala362=)
c.1077A= (p.Ala359=)
c.915A= (p.Ala305=)
c.1029A= (p.Ala343=)
3g.194604444G>ACA90641533TMEM44c.1019C>T (p.Ala340Val)
c.1018-3C>T (n.1018-3C>T)
c.1160C>T (p.Ala387Val)
c.*315C>T (n.*315C>T)
c.214-3C>T (n.214-3C>T)
c.293C>T (p.Ala98Val)
c.518C>T (p.Ala173Val)
n.65C>T
n.783C>T
c.1169C>T (p.Ala390Val)
c.1106C>T (p.Ala369Val)
c.1217C>T (p.Ala406Val)
c.1085C>T (p.Ala362Val)
c.1076C>T (p.Ala359Val)
c.914C>T (p.Ala305Val)
c.1028C>T (p.Ala343Val)
 dbSNP gnomAD v4
3g.194604444G>CCA355825114TMEM44c.1019C>G (p.Ala340Gly)
c.1018-3C>G (n.1018-3C>G)
c.1160C>G (p.Ala387Gly)
c.*315C>G (n.*315C>G)
c.214-3C>G (n.214-3C>G)
c.293C>G (p.Ala98Gly)
c.518C>G (p.Ala173Gly)
n.65C>G
n.783C>G
c.1169C>G (p.Ala390Gly)
c.1106C>G (p.Ala369Gly)
c.1217C>G (p.Ala406Gly)
c.1085C>G (p.Ala362Gly)
c.1076C>G (p.Ala359Gly)
c.914C>G (p.Ala305Gly)
c.1028C>G (p.Ala343Gly)
3g.194604444G=CA1430709430TMEM44c.1019C= (p.Ala340=)
c.1018-3C= (n.1018-3C=)
c.1160C= (p.Ala387=)
c.*315C= (n.*315C=)
c.214-3C= (n.214-3C=)
c.293C= (p.Ala98=)
c.518C= (p.Ala173=)
n.65C=
n.783C=
c.1169C= (p.Ala390=)
c.1106C= (p.Ala369=)
c.1217C= (p.Ala406=)
c.1085C= (p.Ala362=)
c.1076C= (p.Ala359=)
c.914C= (p.Ala305=)
c.1028C= (p.Ala343=)
3g.194604444G>TCA355825115TMEM44c.1019C>A (p.Ala340Glu)
c.1018-3C>A (n.1018-3C>A)
c.1160C>A (p.Ala387Glu)
c.*315C>A (n.*315C>A)
c.214-3C>A (n.214-3C>A)
c.293C>A (p.Ala98Glu)
c.518C>A (p.Ala173Glu)
n.65C>A
n.783C>A
c.1169C>A (p.Ala390Glu)
c.1106C>A (p.Ala369Glu)
c.1217C>A (p.Ala406Glu)
c.1085C>A (p.Ala362Glu)
c.1076C>A (p.Ala359Glu)
c.914C>A (p.Ala305Glu)
c.1028C>A (p.Ala343Glu)
 gnomAD v4
3g.194604445C>ACA355825116TMEM44c.1018G>T (p.Ala340Ser)
c.1018-4G>T (n.1018-4G>T)
c.1159G>T (p.Ala387Ser)
c.*314G>T (n.*314G>T)
c.214-4G>T (n.214-4G>T)
c.292G>T (p.Ala98Ser)
c.517G>T (p.Ala173Ser)
n.64G>T
n.782G>T
c.1168G>T (p.Ala390Ser)
c.1105G>T (p.Ala369Ser)
c.1216G>T (p.Ala406Ser)
c.1084G>T (p.Ala362Ser)
c.1075G>T (p.Ala359Ser)
c.913G>T (p.Ala305Ser)
c.1027G>T (p.Ala343Ser)
 gnomAD v4
3g.194604445C>GCA355825117TMEM44c.1018G>C (p.Ala340Pro)
c.1018-4G>C (n.1018-4G>C)
c.1159G>C (p.Ala387Pro)
c.*314G>C (n.*314G>C)
c.214-4G>C (n.214-4G>C)
c.292G>C (p.Ala98Pro)
c.517G>C (p.Ala173Pro)
n.64G>C
n.782G>C
c.1168G>C (p.Ala390Pro)
c.1105G>C (p.Ala369Pro)
c.1216G>C (p.Ala406Pro)
c.1084G>C (p.Ala362Pro)
c.1075G>C (p.Ala359Pro)
c.913G>C (p.Ala305Pro)
c.1027G>C (p.Ala343Pro)
3g.194604445C>TCA355825118TMEM44c.1018G>A (p.Ala340Thr)
c.1018-4G>A (n.1018-4G>A)
c.1159G>A (p.Ala387Thr)
c.*314G>A (n.*314G>A)
c.214-4G>A (n.214-4G>A)
c.292G>A (p.Ala98Thr)
c.517G>A (p.Ala173Thr)
n.64G>A
n.782G>A
c.1168G>A (p.Ala390Thr)
c.1105G>A (p.Ala369Thr)
c.1216G>A (p.Ala406Thr)
c.1084G>A (p.Ala362Thr)
c.1075G>A (p.Ala359Thr)
c.913G>A (p.Ala305Thr)
c.1027G>A (p.Ala343Thr)
 gnomAD v4
3g.194604446C>ACA355825119TMEM44c.1018-1G>T (n.1018-1G>T)
c.1018-5G>T (n.1018-5G>T)
c.1159-1G>T (n.1159-1G>T)
c.*314-1G>T (n.*314-1G>T)
c.214-5G>T (n.214-5G>T)
c.292-1G>T (n.292-1G>T)
c.517-1G>T (n.517-1G>T)
n.64-1G>T
n.782-1G>T
c.1168-1G>T (n.1168-1G>T)
c.1105-1G>T (n.1105-1G>T)
c.1216-1G>T (n.1216-1G>T)
c.1084-1G>T (n.1084-1G>T)
c.1075-1G>T (n.1075-1G>T)
c.913-1G>T (n.913-1G>T)
c.1027-1G>T (n.1027-1G>T)
3g.194604446C>GCA355825120TMEM44c.1018-1G>C (n.1018-1G>C)
c.1018-5G>C (n.1018-5G>C)
c.1159-1G>C (n.1159-1G>C)
c.*314-1G>C (n.*314-1G>C)
c.214-5G>C (n.214-5G>C)
c.292-1G>C (n.292-1G>C)
c.517-1G>C (n.517-1G>C)
n.64-1G>C
n.782-1G>C
c.1168-1G>C (n.1168-1G>C)
c.1105-1G>C (n.1105-1G>C)
c.1216-1G>C (n.1216-1G>C)
c.1084-1G>C (n.1084-1G>C)
c.1075-1G>C (n.1075-1G>C)
c.913-1G>C (n.913-1G>C)
c.1027-1G>C (n.1027-1G>C)
3g.194604446C>TCA355825121TMEM44c.1018-1G>A (n.1018-1G>A)
c.1018-5G>A (n.1018-5G>A)
c.1159-1G>A (n.1159-1G>A)
c.*314-1G>A (n.*314-1G>A)
c.214-5G>A (n.214-5G>A)
c.292-1G>A (n.292-1G>A)
c.517-1G>A (n.517-1G>A)
n.64-1G>A
n.782-1G>A
c.1168-1G>A (n.1168-1G>A)
c.1105-1G>A (n.1105-1G>A)
c.1216-1G>A (n.1216-1G>A)
c.1084-1G>A (n.1084-1G>A)
c.1075-1G>A (n.1075-1G>A)
c.913-1G>A (n.913-1G>A)
c.1027-1G>A (n.1027-1G>A)
3g.194604447T>ACA355825123TMEM44c.1018-2A>T (n.1018-2A>T)
c.1018-6A>T (n.1018-6A>T)
c.1159-2A>T (n.1159-2A>T)
c.*314-2A>T (n.*314-2A>T)
c.214-6A>T (n.214-6A>T)
c.292-2A>T (n.292-2A>T)
c.517-2A>T (n.517-2A>T)
n.64-2A>T
n.782-2A>T
c.1168-2A>T (n.1168-2A>T)
c.1105-2A>T (n.1105-2A>T)
c.1216-2A>T (n.1216-2A>T)
c.1084-2A>T (n.1084-2A>T)
c.1075-2A>T (n.1075-2A>T)
c.913-2A>T (n.913-2A>T)
c.1027-2A>T (n.1027-2A>T)
3g.194604447T>CCA2762558TMEM44c.1018-2A>G (n.1018-2A>G)
c.1018-6A>G (n.1018-6A>G)
c.1159-2A>G (n.1159-2A>G)
c.*314-2A>G (n.*314-2A>G)
c.214-6A>G (n.214-6A>G)
c.292-2A>G (n.292-2A>G)
c.517-2A>G (n.517-2A>G)
n.64-2A>G
n.782-2A>G
c.1168-2A>G (n.1168-2A>G)
c.1105-2A>G (n.1105-2A>G)
c.1216-2A>G (n.1216-2A>G)
c.1084-2A>G (n.1084-2A>G)
c.1075-2A>G (n.1075-2A>G)
c.913-2A>G (n.913-2A>G)
c.1027-2A>G (n.1027-2A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.194604447T>GCA355825122TMEM44c.1018-2A>C (n.1018-2A>C)
c.1018-6A>C (n.1018-6A>C)
c.1159-2A>C (n.1159-2A>C)
c.*314-2A>C (n.*314-2A>C)
c.214-6A>C (n.214-6A>C)
c.292-2A>C (n.292-2A>C)
c.517-2A>C (n.517-2A>C)
n.64-2A>C
n.782-2A>C
c.1168-2A>C (n.1168-2A>C)
c.1105-2A>C (n.1105-2A>C)
c.1216-2A>C (n.1216-2A>C)
c.1084-2A>C (n.1084-2A>C)
c.1075-2A>C (n.1075-2A>C)
c.913-2A>C (n.913-2A>C)
c.1027-2A>C (n.1027-2A>C)
3g.194604447T=CA1430709431TMEM44c.1018-2A= (n.1018-2A=)
c.1018-6A= (n.1018-6A=)
c.1159-2A= (n.1159-2A=)
c.*314-2A= (n.*314-2A=)
c.214-6A= (n.214-6A=)
c.292-2A= (n.292-2A=)
c.517-2A= (n.517-2A=)
n.64-2A=
n.782-2A=
c.1168-2A= (n.1168-2A=)
c.1105-2A= (n.1105-2A=)
c.1216-2A= (n.1216-2A=)
c.1084-2A= (n.1084-2A=)
c.1075-2A= (n.1075-2A=)
c.913-2A= (n.913-2A=)
c.1027-2A= (n.1027-2A=)
3g.194604448G>ACA2669137843TMEM44c.1018-3C>T (n.1018-3C>T)
c.1018-7C>T (n.1018-7C>T)
c.1159-3C>T (n.1159-3C>T)
c.*314-3C>T (n.*314-3C>T)
c.214-7C>T (n.214-7C>T)
c.292-3C>T (n.292-3C>T)
c.517-3C>T (n.517-3C>T)
n.64-3C>T
n.782-3C>T
c.1168-3C>T (n.1168-3C>T)
c.1105-3C>T (n.1105-3C>T)
c.1216-3C>T (n.1216-3C>T)
c.1084-3C>T (n.1084-3C>T)
c.1075-3C>T (n.1075-3C>T)
c.913-3C>T (n.913-3C>T)
c.1027-3C>T (n.1027-3C>T)
 gnomAD v4
3g.194604448G>CCA1057958751TMEM44c.1018-3C>G (n.1018-3C>G)
c.1018-7C>G (n.1018-7C>G)
c.1159-3C>G (n.1159-3C>G)
c.*314-3C>G (n.*314-3C>G)
c.214-7C>G (n.214-7C>G)
c.292-3C>G (n.292-3C>G)
c.517-3C>G (n.517-3C>G)
n.64-3C>G
n.782-3C>G
c.1168-3C>G (n.1168-3C>G)
c.1105-3C>G (n.1105-3C>G)
c.1216-3C>G (n.1216-3C>G)
c.1084-3C>G (n.1084-3C>G)
c.1075-3C>G (n.1075-3C>G)
c.913-3C>G (n.913-3C>G)
c.1027-3C>G (n.1027-3C>G)
 dbSNP gnomAD v3 gnomAD v4
3g.194604448G=CA1430709432TMEM44c.1018-3C= (n.1018-3C=)
c.1018-7C= (n.1018-7C=)
c.1159-3C= (n.1159-3C=)
c.*314-3C= (n.*314-3C=)
c.214-7C= (n.214-7C=)
c.292-3C= (n.292-3C=)
c.517-3C= (n.517-3C=)
n.64-3C=
n.782-3C=
c.1168-3C= (n.1168-3C=)
c.1105-3C= (n.1105-3C=)
c.1216-3C= (n.1216-3C=)
c.1084-3C= (n.1084-3C=)
c.1075-3C= (n.1075-3C=)
c.913-3C= (n.913-3C=)
c.1027-3C= (n.1027-3C=)
3g.194604448G>TCA2669137844TMEM44c.1018-3C>A (n.1018-3C>A)
c.1018-7C>A (n.1018-7C>A)
c.1159-3C>A (n.1159-3C>A)
c.*314-3C>A (n.*314-3C>A)
c.214-7C>A (n.214-7C>A)
c.292-3C>A (n.292-3C>A)
c.517-3C>A (n.517-3C>A)
n.64-3C>A
n.782-3C>A
c.1168-3C>A (n.1168-3C>A)
c.1105-3C>A (n.1105-3C>A)
c.1216-3C>A (n.1216-3C>A)
c.1084-3C>A (n.1084-3C>A)
c.1075-3C>A (n.1075-3C>A)
c.913-3C>A (n.913-3C>A)
c.1027-3C>A (n.1027-3C>A)
 gnomAD v4
3g.194604449C>ACA2669137845TMEM44c.1018-4G>T (n.1018-4G>T)
c.1018-8G>T (n.1018-8G>T)
c.1159-4G>T (n.1159-4G>T)
c.*314-4G>T (n.*314-4G>T)
c.214-8G>T (n.214-8G>T)
c.292-4G>T (n.292-4G>T)
c.517-4G>T (n.517-4G>T)
n.64-4G>T
n.782-4G>T
c.1168-4G>T (n.1168-4G>T)
c.1105-4G>T (n.1105-4G>T)
c.1216-4G>T (n.1216-4G>T)
c.1084-4G>T (n.1084-4G>T)
c.1075-4G>T (n.1075-4G>T)
c.913-4G>T (n.913-4G>T)
c.1027-4G>T (n.1027-4G>T)
 gnomAD v4
3g.194604449C=CA1430709433TMEM44c.1018-4G= (n.1018-4G=)
c.1018-8G= (n.1018-8G=)
c.1159-4G= (n.1159-4G=)
c.*314-4G= (n.*314-4G=)
c.214-8G= (n.214-8G=)
c.292-4G= (n.292-4G=)
c.517-4G= (n.517-4G=)
n.64-4G=
n.782-4G=
c.1168-4G= (n.1168-4G=)
c.1105-4G= (n.1105-4G=)
c.1216-4G= (n.1216-4G=)
c.1084-4G= (n.1084-4G=)
c.1075-4G= (n.1075-4G=)
c.913-4G= (n.913-4G=)
c.1027-4G= (n.1027-4G=)
3g.194604449C>TCA548848423TMEM44c.1018-4G>A (n.1018-4G>A)
c.1018-8G>A (n.1018-8G>A)
c.1159-4G>A (n.1159-4G>A)
c.*314-4G>A (n.*314-4G>A)
c.214-8G>A (n.214-8G>A)
c.292-4G>A (n.292-4G>A)
c.517-4G>A (n.517-4G>A)
n.64-4G>A
n.782-4G>A
c.1168-4G>A (n.1168-4G>A)
c.1105-4G>A (n.1105-4G>A)
c.1216-4G>A (n.1216-4G>A)
c.1084-4G>A (n.1084-4G>A)
c.1075-4G>A (n.1075-4G>A)
c.913-4G>A (n.913-4G>A)
c.1027-4G>A (n.1027-4G>A)
 dbSNP gnomAD v2
3g.194604451A>TCA2669137846TMEM44c.1018-6T>A (n.1018-6T>A)
c.1018-10T>A (n.1018-10T>A)
c.1159-6T>A (n.1159-6T>A)
c.*314-6T>A (n.*314-6T>A)
c.214-10T>A (n.214-10T>A)
c.292-6T>A (n.292-6T>A)
c.517-6T>A (n.517-6T>A)
n.64-6T>A
n.782-6T>A
c.1168-6T>A (n.1168-6T>A)
c.1105-6T>A (n.1105-6T>A)
c.1216-6T>A (n.1216-6T>A)
c.1084-6T>A (n.1084-6T>A)
c.1075-6T>A (n.1075-6T>A)
c.913-6T>A (n.913-6T>A)
c.1027-6T>A (n.1027-6T>A)
 gnomAD v4
3g.194604452G>ACA1057958757TMEM44c.1018-7C>T (n.1018-7C>T)
c.1018-11C>T (n.1018-11C>T)
c.1159-7C>T (n.1159-7C>T)
c.*314-7C>T (n.*314-7C>T)
c.214-11C>T (n.214-11C>T)
c.292-7C>T (n.292-7C>T)
c.517-7C>T (n.517-7C>T)
n.64-7C>T
n.782-7C>T
c.1168-7C>T (n.1168-7C>T)
c.1105-7C>T (n.1105-7C>T)
c.1216-7C>T (n.1216-7C>T)
c.1084-7C>T (n.1084-7C>T)
c.1075-7C>T (n.1075-7C>T)
c.913-7C>T (n.913-7C>T)
c.1027-7C>T (n.1027-7C>T)
 dbSNP gnomAD v4
3g.194604452G=CA1430709435TMEM44c.1018-7C= (n.1018-7C=)
c.1018-11C= (n.1018-11C=)
c.1159-7C= (n.1159-7C=)
c.*314-7C= (n.*314-7C=)
c.214-11C= (n.214-11C=)
c.292-7C= (n.292-7C=)
c.517-7C= (n.517-7C=)
n.64-7C=
n.782-7C=
c.1168-7C= (n.1168-7C=)
c.1105-7C= (n.1105-7C=)
c.1216-7C= (n.1216-7C=)
c.1084-7C= (n.1084-7C=)
c.1075-7C= (n.1075-7C=)
c.913-7C= (n.913-7C=)
c.1027-7C= (n.1027-7C=)
3g.194604452G>TCA2669137847TMEM44c.1018-7C>A (n.1018-7C>A)
c.1018-11C>A (n.1018-11C>A)
c.1159-7C>A (n.1159-7C>A)
c.*314-7C>A (n.*314-7C>A)
c.214-11C>A (n.214-11C>A)
c.292-7C>A (n.292-7C>A)
c.517-7C>A (n.517-7C>A)
n.64-7C>A
n.782-7C>A
c.1168-7C>A (n.1168-7C>A)
c.1105-7C>A (n.1105-7C>A)
c.1216-7C>A (n.1216-7C>A)
c.1084-7C>A (n.1084-7C>A)
c.1075-7C>A (n.1075-7C>A)
c.913-7C>A (n.913-7C>A)
c.1027-7C>A (n.1027-7C>A)
 gnomAD v4
3g.194604452_194604454delinsGGTCA1430709434TMEM44c.1018-9_1018-7delinsACC (n.1018-9_1018-7delinsACC)
c.1018-13_1018-11delinsACC (n.1018-13_1018-11delinsACC)
c.1159-9_1159-7delinsACC (n.1159-9_1159-7delinsACC)
c.*314-9_*314-7delinsACC (n.*314-9_*314-7delinsACC)
c.214-13_214-11delinsACC (n.214-13_214-11delinsACC)
c.292-9_292-7delinsACC (n.292-9_292-7delinsACC)
c.517-9_517-7delinsACC (n.517-9_517-7delinsACC)
n.64-9_64-7delinsACC
n.782-9_782-7delinsACC
c.1168-9_1168-7delinsACC (n.1168-9_1168-7delinsACC)
c.1105-9_1105-7delinsACC (n.1105-9_1105-7delinsACC)
c.1216-9_1216-7delinsACC (n.1216-9_1216-7delinsACC)
c.1084-9_1084-7delinsACC (n.1084-9_1084-7delinsACC)
c.1075-9_1075-7delinsACC (n.1075-9_1075-7delinsACC)
c.913-9_913-7delinsACC (n.913-9_913-7delinsACC)
c.1027-9_1027-7delinsACC (n.1027-9_1027-7delinsACC)
3g.194604453G>ACA2577996355TMEM44c.1018-8C>T (n.1018-8C>T)
c.1018-12C>T (n.1018-12C>T)
c.1159-8C>T (n.1159-8C>T)
c.*314-8C>T (n.*314-8C>T)
c.214-12C>T (n.214-12C>T)
c.292-8C>T (n.292-8C>T)
c.517-8C>T (n.517-8C>T)
n.64-8C>T
n.782-8C>T
c.1168-8C>T (n.1168-8C>T)
c.1105-8C>T (n.1105-8C>T)
c.1216-8C>T (n.1216-8C>T)
c.1084-8C>T (n.1084-8C>T)
c.1075-8C>T (n.1075-8C>T)
c.913-8C>T (n.913-8C>T)
c.1027-8C>T (n.1027-8C>T)
3g.194604453G>CCA2669137848TMEM44c.1018-8C>G (n.1018-8C>G)
c.1018-12C>G (n.1018-12C>G)
c.1159-8C>G (n.1159-8C>G)
c.*314-8C>G (n.*314-8C>G)
c.214-12C>G (n.214-12C>G)
c.292-8C>G (n.292-8C>G)
c.517-8C>G (n.517-8C>G)
n.64-8C>G
n.782-8C>G
c.1168-8C>G (n.1168-8C>G)
c.1105-8C>G (n.1105-8C>G)
c.1216-8C>G (n.1216-8C>G)
c.1084-8C>G (n.1084-8C>G)
c.1075-8C>G (n.1075-8C>G)
c.913-8C>G (n.913-8C>G)
c.1027-8C>G (n.1027-8C>G)
 gnomAD v4
3g.194604458_194604459delCA914891409TMEM44c.1018-9_1018-8del (n.1018-9_1018-8del)
c.1018-13_1018-12del (n.1018-13_1018-12del)
c.1159-9_1159-8del (n.1159-9_1159-8del)
c.*314-9_*314-8del (n.*314-9_*314-8del)
c.214-13_214-12del (n.214-13_214-12del)
c.292-9_292-8del (n.292-9_292-8del)
c.517-9_517-8del (n.517-9_517-8del)
n.64-9_64-8del
n.782-9_782-8del
c.1168-9_1168-8del (n.1168-9_1168-8del)
c.1105-9_1105-8del (n.1105-9_1105-8del)
c.1216-9_1216-8del (n.1216-9_1216-8del)
c.1084-9_1084-8del (n.1084-9_1084-8del)
c.1075-9_1075-8del (n.1075-9_1075-8del)
c.913-9_913-8del (n.913-9_913-8del)
c.1027-9_1027-8del (n.1027-9_1027-8del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.194604454T>CCA2669137849TMEM44c.1018-9A>G (n.1018-9A>G)
c.1018-13A>G (n.1018-13A>G)
c.1159-9A>G (n.1159-9A>G)
c.*314-9A>G (n.*314-9A>G)
c.214-13A>G (n.214-13A>G)
c.292-9A>G (n.292-9A>G)
c.517-9A>G (n.517-9A>G)
n.64-9A>G
n.782-9A>G
c.1168-9A>G (n.1168-9A>G)
c.1105-9A>G (n.1105-9A>G)
c.1216-9A>G (n.1216-9A>G)
c.1084-9A>G (n.1084-9A>G)
c.1075-9A>G (n.1075-9A>G)
c.913-9A>G (n.913-9A>G)
c.1027-9A>G (n.1027-9A>G)
 gnomAD v4
3g.194604454T>GCA1430709437TMEM44c.1018-9A>C (n.1018-9A>C)
c.1018-13A>C (n.1018-13A>C)
c.1159-9A>C (n.1159-9A>C)
c.*314-9A>C (n.*314-9A>C)
c.214-13A>C (n.214-13A>C)
c.292-9A>C (n.292-9A>C)
c.517-9A>C (n.517-9A>C)
n.64-9A>C
n.782-9A>C
c.1168-9A>C (n.1168-9A>C)
c.1105-9A>C (n.1105-9A>C)
c.1216-9A>C (n.1216-9A>C)
c.1084-9A>C (n.1084-9A>C)
c.1075-9A>C (n.1075-9A>C)
c.913-9A>C (n.913-9A>C)
c.1027-9A>C (n.1027-9A>C)
 dbSNP
3g.194604454T=CA1430709436TMEM44c.1018-9A= (n.1018-9A=)
c.1018-13A= (n.1018-13A=)
c.1159-9A= (n.1159-9A=)
c.*314-9A= (n.*314-9A=)
c.214-13A= (n.214-13A=)
c.292-9A= (n.292-9A=)
c.517-9A= (n.517-9A=)
n.64-9A=
n.782-9A=
c.1168-9A= (n.1168-9A=)
c.1105-9A= (n.1105-9A=)
c.1216-9A= (n.1216-9A=)
c.1084-9A= (n.1084-9A=)
c.1075-9A= (n.1075-9A=)
c.913-9A= (n.913-9A=)
c.1027-9A= (n.1027-9A=)
3g.194604455G>ACA2669137850TMEM44c.1018-10C>T (n.1018-10C>T)
c.1018-14C>T (n.1018-14C>T)
c.1159-10C>T (n.1159-10C>T)
c.*314-10C>T (n.*314-10C>T)
c.214-14C>T (n.214-14C>T)
c.292-10C>T (n.292-10C>T)
c.517-10C>T (n.517-10C>T)
n.64-10C>T
n.782-10C>T
c.1168-10C>T (n.1168-10C>T)
c.1105-10C>T (n.1105-10C>T)
c.1216-10C>T (n.1216-10C>T)
c.1084-10C>T (n.1084-10C>T)
c.1075-10C>T (n.1075-10C>T)
c.913-10C>T (n.913-10C>T)
c.1027-10C>T (n.1027-10C>T)
 gnomAD v4
3g.194604455G>TCA2669137851TMEM44c.1018-10C>A (n.1018-10C>A)
c.1018-14C>A (n.1018-14C>A)
c.1159-10C>A (n.1159-10C>A)
c.*314-10C>A (n.*314-10C>A)
c.214-14C>A (n.214-14C>A)
c.292-10C>A (n.292-10C>A)
c.517-10C>A (n.517-10C>A)
n.64-10C>A
n.782-10C>A
c.1168-10C>A (n.1168-10C>A)
c.1105-10C>A (n.1105-10C>A)
c.1216-10C>A (n.1216-10C>A)
c.1084-10C>A (n.1084-10C>A)
c.1075-10C>A (n.1075-10C>A)
c.913-10C>A (n.913-10C>A)
c.1027-10C>A (n.1027-10C>A)
 gnomAD v4
3g.194604456T>CCA2669137852TMEM44c.1018-11A>G (n.1018-11A>G)
c.1018-15A>G (n.1018-15A>G)
c.1159-11A>G (n.1159-11A>G)
c.*314-11A>G (n.*314-11A>G)
c.214-15A>G (n.214-15A>G)
c.292-11A>G (n.292-11A>G)
c.517-11A>G (n.517-11A>G)
n.64-11A>G
n.782-11A>G
c.1168-11A>G (n.1168-11A>G)
c.1105-11A>G (n.1105-11A>G)
c.1216-11A>G (n.1216-11A>G)
c.1084-11A>G (n.1084-11A>G)
c.1075-11A>G (n.1075-11A>G)
c.913-11A>G (n.913-11A>G)
c.1027-11A>G (n.1027-11A>G)
 dbSNP gnomAD v4
3g.194604456T>GCA90641563TMEM44c.1018-11A>C (n.1018-11A>C)
c.1018-15A>C (n.1018-15A>C)
c.1159-11A>C (n.1159-11A>C)
c.*314-11A>C (n.*314-11A>C)
c.214-15A>C (n.214-15A>C)
c.292-11A>C (n.292-11A>C)
c.517-11A>C (n.517-11A>C)
n.64-11A>C
n.782-11A>C
c.1168-11A>C (n.1168-11A>C)
c.1105-11A>C (n.1105-11A>C)
c.1216-11A>C (n.1216-11A>C)
c.1084-11A>C (n.1084-11A>C)
c.1075-11A>C (n.1075-11A>C)
c.913-11A>C (n.913-11A>C)
c.1027-11A>C (n.1027-11A>C)
 dbSNP gnomAD v3 gnomAD v4
3g.194604456T=CA1430709438TMEM44c.1018-11A= (n.1018-11A=)
c.1018-15A= (n.1018-15A=)
c.1159-11A= (n.1159-11A=)
c.*314-11A= (n.*314-11A=)
c.214-15A= (n.214-15A=)
c.292-11A= (n.292-11A=)
c.517-11A= (n.517-11A=)
n.64-11A=
n.782-11A=
c.1168-11A= (n.1168-11A=)
c.1105-11A= (n.1105-11A=)
c.1216-11A= (n.1216-11A=)
c.1084-11A= (n.1084-11A=)
c.1075-11A= (n.1075-11A=)
c.913-11A= (n.913-11A=)
c.1027-11A= (n.1027-11A=)
3g.194604457G>ACA1430709440TMEM44c.1018-12C>T (n.1018-12C>T)
c.1018-16C>T (n.1018-16C>T)
c.1159-12C>T (n.1159-12C>T)
c.*314-12C>T (n.*314-12C>T)
c.214-16C>T (n.214-16C>T)
c.292-12C>T (n.292-12C>T)
c.517-12C>T (n.517-12C>T)
n.64-12C>T
n.782-12C>T
c.1168-12C>T (n.1168-12C>T)
c.1105-12C>T (n.1105-12C>T)
c.1216-12C>T (n.1216-12C>T)
c.1084-12C>T (n.1084-12C>T)
c.1075-12C>T (n.1075-12C>T)
c.913-12C>T (n.913-12C>T)
c.1027-12C>T (n.1027-12C>T)
 dbSNP gnomAD v4
3g.194604457G>CCA2669137853TMEM44c.1018-12C>G (n.1018-12C>G)
c.1018-16C>G (n.1018-16C>G)
c.1159-12C>G (n.1159-12C>G)
c.*314-12C>G (n.*314-12C>G)
c.214-16C>G (n.214-16C>G)
c.292-12C>G (n.292-12C>G)
c.517-12C>G (n.517-12C>G)
n.64-12C>G
n.782-12C>G
c.1168-12C>G (n.1168-12C>G)
c.1105-12C>G (n.1105-12C>G)
c.1216-12C>G (n.1216-12C>G)
c.1084-12C>G (n.1084-12C>G)
c.1075-12C>G (n.1075-12C>G)
c.913-12C>G (n.913-12C>G)
c.1027-12C>G (n.1027-12C>G)
 gnomAD v4
3g.194604457G=CA1430709439TMEM44c.1018-12C= (n.1018-12C=)
c.1018-16C= (n.1018-16C=)
c.1159-12C= (n.1159-12C=)
c.*314-12C= (n.*314-12C=)
c.214-16C= (n.214-16C=)
c.292-12C= (n.292-12C=)
c.517-12C= (n.517-12C=)
n.64-12C=
n.782-12C=
c.1168-12C= (n.1168-12C=)
c.1105-12C= (n.1105-12C=)
c.1216-12C= (n.1216-12C=)
c.1084-12C= (n.1084-12C=)
c.1075-12C= (n.1075-12C=)
c.913-12C= (n.913-12C=)
c.1027-12C= (n.1027-12C=)
3g.194604458T>GCA2577996356TMEM44c.1018-13A>C (n.1018-13A>C)
c.1018-17A>C (n.1018-17A>C)
c.1159-13A>C (n.1159-13A>C)
c.*314-13A>C (n.*314-13A>C)
c.214-17A>C (n.214-17A>C)
c.292-13A>C (n.292-13A>C)
c.517-13A>C (n.517-13A>C)
n.64-13A>C
n.782-13A>C
c.1168-13A>C (n.1168-13A>C)
c.1105-13A>C (n.1105-13A>C)
c.1216-13A>C (n.1216-13A>C)
c.1084-13A>C (n.1084-13A>C)
c.1075-13A>C (n.1075-13A>C)
c.913-13A>C (n.913-13A>C)
c.1027-13A>C (n.1027-13A>C)
 gnomAD v4
3g.194604459G>ACA2669137854TMEM44c.1018-14C>T (n.1018-14C>T)
c.1018-18C>T (n.1018-18C>T)
c.1159-14C>T (n.1159-14C>T)
c.*314-14C>T (n.*314-14C>T)
c.214-18C>T (n.214-18C>T)
c.292-14C>T (n.292-14C>T)
c.517-14C>T (n.517-14C>T)
n.64-14C>T
n.782-14C>T
c.1168-14C>T (n.1168-14C>T)
c.1105-14C>T (n.1105-14C>T)
c.1216-14C>T (n.1216-14C>T)
c.1084-14C>T (n.1084-14C>T)
c.1075-14C>T (n.1075-14C>T)
c.913-14C>T (n.913-14C>T)
c.1027-14C>T (n.1027-14C>T)
 gnomAD v4
3g.194604459G>TCA2669137855TMEM44c.1018-14C>A (n.1018-14C>A)
c.1018-18C>A (n.1018-18C>A)
c.1159-14C>A (n.1159-14C>A)
c.*314-14C>A (n.*314-14C>A)
c.214-18C>A (n.214-18C>A)
c.292-14C>A (n.292-14C>A)
c.517-14C>A (n.517-14C>A)
n.64-14C>A
n.782-14C>A
c.1168-14C>A (n.1168-14C>A)
c.1105-14C>A (n.1105-14C>A)
c.1216-14C>A (n.1216-14C>A)
c.1084-14C>A (n.1084-14C>A)
c.1075-14C>A (n.1075-14C>A)
c.913-14C>A (n.913-14C>A)
c.1027-14C>A (n.1027-14C>A)
 gnomAD v4
3g.194604460A>GCA2669137856TMEM44c.1018-15T>C (n.1018-15T>C)
c.1018-19T>C (n.1018-19T>C)
c.1159-15T>C (n.1159-15T>C)
c.*314-15T>C (n.*314-15T>C)
c.214-19T>C (n.214-19T>C)
c.292-15T>C (n.292-15T>C)
c.517-15T>C (n.517-15T>C)
n.64-15T>C
n.782-15T>C
c.1168-15T>C (n.1168-15T>C)
c.1105-15T>C (n.1105-15T>C)
c.1216-15T>C (n.1216-15T>C)
c.1084-15T>C (n.1084-15T>C)
c.1075-15T>C (n.1075-15T>C)
c.913-15T>C (n.913-15T>C)
c.1027-15T>C (n.1027-15T>C)
 gnomAD v4
3g.194604460_194604461delinsAGCA1430709441TMEM44c.1018-16_1018-15delinsCT (n.1018-16_1018-15delinsCT)
c.1018-20_1018-19delinsCT (n.1018-20_1018-19delinsCT)
c.1159-16_1159-15delinsCT (n.1159-16_1159-15delinsCT)
c.*314-16_*314-15delinsCT (n.*314-16_*314-15delinsCT)
c.214-20_214-19delinsCT (n.214-20_214-19delinsCT)
c.292-16_292-15delinsCT (n.292-16_292-15delinsCT)
c.517-16_517-15delinsCT (n.517-16_517-15delinsCT)
n.64-16_64-15delinsCT
n.782-16_782-15delinsCT
c.1168-16_1168-15delinsCT (n.1168-16_1168-15delinsCT)
c.1105-16_1105-15delinsCT (n.1105-16_1105-15delinsCT)
c.1216-16_1216-15delinsCT (n.1216-16_1216-15delinsCT)
c.1084-16_1084-15delinsCT (n.1084-16_1084-15delinsCT)
c.1075-16_1075-15delinsCT (n.1075-16_1075-15delinsCT)
c.913-16_913-15delinsCT (n.913-16_913-15delinsCT)
c.1027-16_1027-15delinsCT (n.1027-16_1027-15delinsCT)
3g.194604461delCA1057958761TMEM44c.1018-16del (n.1018-16del)
c.1018-20del (n.1018-20del)
c.1159-16del (n.1159-16del)
c.*314-16del (n.*314-16del)
c.214-20del (n.214-20del)
c.292-16del (n.292-16del)
c.517-16del (n.517-16del)
n.64-16del
n.782-16del
c.1168-16del (n.1168-16del)
c.1105-16del (n.1105-16del)
c.1216-16del (n.1216-16del)
c.1084-16del (n.1084-16del)
c.1075-16del (n.1075-16del)
c.913-16del (n.913-16del)
c.1027-16del (n.1027-16del)
 dbSNP gnomAD v3 gnomAD v4
3g.194604461G>ACA548848424TMEM44c.1018-16C>T (n.1018-16C>T)
c.1018-20C>T (n.1018-20C>T)
c.1159-16C>T (n.1159-16C>T)
c.*314-16C>T (n.*314-16C>T)
c.214-20C>T (n.214-20C>T)
c.292-16C>T (n.292-16C>T)
c.517-16C>T (n.517-16C>T)
n.64-16C>T
n.782-16C>T
c.1168-16C>T (n.1168-16C>T)
c.1105-16C>T (n.1105-16C>T)
c.1216-16C>T (n.1216-16C>T)
c.1084-16C>T (n.1084-16C>T)
c.1075-16C>T (n.1075-16C>T)
c.913-16C>T (n.913-16C>T)
c.1027-16C>T (n.1027-16C>T)
 dbSNP gnomAD v2 gnomAD v4
3g.194604461G>CCA2669137858TMEM44c.1018-16C>G (n.1018-16C>G)
c.1018-20C>G (n.1018-20C>G)
c.1159-16C>G (n.1159-16C>G)
c.*314-16C>G (n.*314-16C>G)
c.214-20C>G (n.214-20C>G)
c.292-16C>G (n.292-16C>G)
c.517-16C>G (n.517-16C>G)
n.64-16C>G
n.782-16C>G
c.1168-16C>G (n.1168-16C>G)
c.1105-16C>G (n.1105-16C>G)
c.1216-16C>G (n.1216-16C>G)
c.1084-16C>G (n.1084-16C>G)
c.1075-16C>G (n.1075-16C>G)
c.913-16C>G (n.913-16C>G)
c.1027-16C>G (n.1027-16C>G)
 gnomAD v4
3g.194604461G=CA1430709442TMEM44c.1018-16C= (n.1018-16C=)
c.1018-20C= (n.1018-20C=)
c.1159-16C= (n.1159-16C=)
c.*314-16C= (n.*314-16C=)
c.214-20C= (n.214-20C=)
c.292-16C= (n.292-16C=)
c.517-16C= (n.517-16C=)
n.64-16C=
n.782-16C=
c.1168-16C= (n.1168-16C=)
c.1105-16C= (n.1105-16C=)
c.1216-16C= (n.1216-16C=)
c.1084-16C= (n.1084-16C=)
c.1075-16C= (n.1075-16C=)
c.913-16C= (n.913-16C=)
c.1027-16C= (n.1027-16C=)
3g.194604461G>TCA2669137857TMEM44c.1018-16C>A (n.1018-16C>A)
c.1018-20C>A (n.1018-20C>A)
c.1159-16C>A (n.1159-16C>A)
c.*314-16C>A (n.*314-16C>A)
c.214-20C>A (n.214-20C>A)
c.292-16C>A (n.292-16C>A)
c.517-16C>A (n.517-16C>A)
n.64-16C>A
n.782-16C>A
c.1168-16C>A (n.1168-16C>A)
c.1105-16C>A (n.1105-16C>A)
c.1216-16C>A (n.1216-16C>A)
c.1084-16C>A (n.1084-16C>A)
c.1075-16C>A (n.1075-16C>A)
c.913-16C>A (n.913-16C>A)
c.1027-16C>A (n.1027-16C>A)
 gnomAD v4
3g.194604462A=CA1430709443TMEM44c.1018-17T= (n.1018-17T=)
c.1018-21T= (n.1018-21T=)
c.1159-17T= (n.1159-17T=)
c.*314-17T= (n.*314-17T=)
c.214-21T= (n.214-21T=)
c.292-17T= (n.292-17T=)
c.517-17T= (n.517-17T=)
n.64-17T=
n.782-17T=
c.1168-17T= (n.1168-17T=)
c.1105-17T= (n.1105-17T=)
c.1216-17T= (n.1216-17T=)
c.1084-17T= (n.1084-17T=)
c.1075-17T= (n.1075-17T=)
c.913-17T= (n.913-17T=)
c.1027-17T= (n.1027-17T=)
3g.194604462A>GCA90641573TMEM44c.1018-17T>C (n.1018-17T>C)
c.1018-21T>C (n.1018-21T>C)
c.1159-17T>C (n.1159-17T>C)
c.*314-17T>C (n.*314-17T>C)
c.214-21T>C (n.214-21T>C)
c.292-17T>C (n.292-17T>C)
c.517-17T>C (n.517-17T>C)
n.64-17T>C
n.782-17T>C
c.1168-17T>C (n.1168-17T>C)
c.1105-17T>C (n.1105-17T>C)
c.1216-17T>C (n.1216-17T>C)
c.1084-17T>C (n.1084-17T>C)
c.1075-17T>C (n.1075-17T>C)
c.913-17T>C (n.913-17T>C)
c.1027-17T>C (n.1027-17T>C)
 dbSNP
3g.194604462_194604472delinsAAAGGGCAGGCCA1430709444TMEM44c.1018-27_1018-17delinsGCCTGCCCTTT (n.1018-27_1018-17delinsGCCTGCCCTTT)
c.1018-31_1018-21delinsGCCTGCCCTTT (n.1018-31_1018-21delinsGCCTGCCCTTT)
c.1159-27_1159-17delinsGCCTGCCCTTT (n.1159-27_1159-17delinsGCCTGCCCTTT)
c.*314-27_*314-17delinsGCCTGCCCTTT (n.*314-27_*314-17delinsGCCTGCCCTTT)
c.214-31_214-21delinsGCCTGCCCTTT (n.214-31_214-21delinsGCCTGCCCTTT)
c.292-27_292-17delinsGCCTGCCCTTT (n.292-27_292-17delinsGCCTGCCCTTT)
c.517-27_517-17delinsGCCTGCCCTTT (n.517-27_517-17delinsGCCTGCCCTTT)
n.64-27_64-17delinsGCCTGCCCTTT
n.782-27_782-17delinsGCCTGCCCTTT
c.1168-27_1168-17delinsGCCTGCCCTTT (n.1168-27_1168-17delinsGCCTGCCCTTT)
c.1105-27_1105-17delinsGCCTGCCCTTT (n.1105-27_1105-17delinsGCCTGCCCTTT)
c.1216-27_1216-17delinsGCCTGCCCTTT (n.1216-27_1216-17delinsGCCTGCCCTTT)
c.1084-27_1084-17delinsGCCTGCCCTTT (n.1084-27_1084-17delinsGCCTGCCCTTT)
c.1075-27_1075-17delinsGCCTGCCCTTT (n.1075-27_1075-17delinsGCCTGCCCTTT)
c.913-27_913-17delinsGCCTGCCCTTT (n.913-27_913-17delinsGCCTGCCCTTT)
c.1027-27_1027-17delinsGCCTGCCCTTT (n.1027-27_1027-17delinsGCCTGCCCTTT)
3g.194604463A>TCA2669137859TMEM44c.1018-18T>A (n.1018-18T>A)
c.1018-22T>A (n.1018-22T>A)
c.1159-18T>A (n.1159-18T>A)
c.*314-18T>A (n.*314-18T>A)
c.214-22T>A (n.214-22T>A)
c.292-18T>A (n.292-18T>A)
c.517-18T>A (n.517-18T>A)
n.64-18T>A
n.782-18T>A
c.1168-18T>A (n.1168-18T>A)
c.1105-18T>A (n.1105-18T>A)
c.1216-18T>A (n.1216-18T>A)
c.1084-18T>A (n.1084-18T>A)
c.1075-18T>A (n.1075-18T>A)
c.913-18T>A (n.913-18T>A)
c.1027-18T>A (n.1027-18T>A)
 gnomAD v4
3g.194604467_194604476delCA1430709445TMEM44c.1018-27_1018-18del (n.1018-27_1018-18del)
c.1018-31_1018-22del (n.1018-31_1018-22del)
c.1159-27_1159-18del (n.1159-27_1159-18del)
c.*314-27_*314-18del (n.*314-27_*314-18del)
c.214-31_214-22del (n.214-31_214-22del)
c.292-27_292-18del (n.292-27_292-18del)
c.517-27_517-18del (n.517-27_517-18del)
n.64-27_64-18del
n.782-27_782-18del
c.1168-27_1168-18del (n.1168-27_1168-18del)
c.1105-27_1105-18del (n.1105-27_1105-18del)
c.1216-27_1216-18del (n.1216-27_1216-18del)
c.1084-27_1084-18del (n.1084-27_1084-18del)
c.1075-27_1075-18del (n.1075-27_1075-18del)
c.913-27_913-18del (n.913-27_913-18del)
c.1027-27_1027-18del (n.1027-27_1027-18del)
 dbSNP
3g.194604465G>TCA2669137860TMEM44c.1018-20C>A (n.1018-20C>A)
c.1018-24C>A (n.1018-24C>A)
c.1159-20C>A (n.1159-20C>A)
c.*314-20C>A (n.*314-20C>A)
c.214-24C>A (n.214-24C>A)
c.292-20C>A (n.292-20C>A)
c.517-20C>A (n.517-20C>A)
n.64-20C>A
n.782-20C>A
c.1168-20C>A (n.1168-20C>A)
c.1105-20C>A (n.1105-20C>A)
c.1216-20C>A (n.1216-20C>A)
c.1084-20C>A (n.1084-20C>A)
c.1075-20C>A (n.1075-20C>A)
c.913-20C>A (n.913-20C>A)
c.1027-20C>A (n.1027-20C>A)
 gnomAD v4
3g.194604467G>ACA1057958765TMEM44c.1018-22C>T (n.1018-22C>T)
c.1018-26C>T (n.1018-26C>T)
c.1159-22C>T (n.1159-22C>T)
c.*314-22C>T (n.*314-22C>T)
c.214-26C>T (n.214-26C>T)
c.292-22C>T (n.292-22C>T)
c.517-22C>T (n.517-22C>T)
n.64-22C>T
n.782-22C>T
c.1168-22C>T (n.1168-22C>T)
c.1105-22C>T (n.1105-22C>T)
c.1216-22C>T (n.1216-22C>T)
c.1084-22C>T (n.1084-22C>T)
c.1075-22C>T (n.1075-22C>T)
c.913-22C>T (n.913-22C>T)
c.1027-22C>T (n.1027-22C>T)
 dbSNP gnomAD v3 gnomAD v4
3g.194604467G>CCA2669137861TMEM44c.1018-22C>G (n.1018-22C>G)
c.1018-26C>G (n.1018-26C>G)
c.1159-22C>G (n.1159-22C>G)
c.*314-22C>G (n.*314-22C>G)
c.214-26C>G (n.214-26C>G)
c.292-22C>G (n.292-22C>G)
c.517-22C>G (n.517-22C>G)
n.64-22C>G
n.782-22C>G
c.1168-22C>G (n.1168-22C>G)
c.1105-22C>G (n.1105-22C>G)
c.1216-22C>G (n.1216-22C>G)
c.1084-22C>G (n.1084-22C>G)
c.1075-22C>G (n.1075-22C>G)
c.913-22C>G (n.913-22C>G)
c.1027-22C>G (n.1027-22C>G)
 gnomAD v4
3g.194604467G=CA1430709446TMEM44c.1018-22C= (n.1018-22C=)
c.1018-26C= (n.1018-26C=)
c.1159-22C= (n.1159-22C=)
c.*314-22C= (n.*314-22C=)
c.214-26C= (n.214-26C=)
c.292-22C= (n.292-22C=)
c.517-22C= (n.517-22C=)
n.64-22C=
n.782-22C=
c.1168-22C= (n.1168-22C=)
c.1105-22C= (n.1105-22C=)
c.1216-22C= (n.1216-22C=)
c.1084-22C= (n.1084-22C=)
c.1075-22C= (n.1075-22C=)
c.913-22C= (n.913-22C=)
c.1027-22C= (n.1027-22C=)
3g.194604467G>TCA2669137862TMEM44c.1018-22C>A (n.1018-22C>A)
c.1018-26C>A (n.1018-26C>A)
c.1159-22C>A (n.1159-22C>A)
c.*314-22C>A (n.*314-22C>A)
c.214-26C>A (n.214-26C>A)
c.292-22C>A (n.292-22C>A)
c.517-22C>A (n.517-22C>A)
n.64-22C>A
n.782-22C>A
c.1168-22C>A (n.1168-22C>A)
c.1105-22C>A (n.1105-22C>A)
c.1216-22C>A (n.1216-22C>A)
c.1084-22C>A (n.1084-22C>A)
c.1075-22C>A (n.1075-22C>A)
c.913-22C>A (n.913-22C>A)
c.1027-22C>A (n.1027-22C>A)
 gnomAD v4
3g.194604468C>ACA2669137863TMEM44c.1018-23G>T (n.1018-23G>T)
c.1018-27G>T (n.1018-27G>T)
c.1159-23G>T (n.1159-23G>T)
c.*314-23G>T (n.*314-23G>T)
c.214-27G>T (n.214-27G>T)
c.292-23G>T (n.292-23G>T)
c.517-23G>T (n.517-23G>T)
n.64-23G>T
n.782-23G>T
c.1168-23G>T (n.1168-23G>T)
c.1105-23G>T (n.1105-23G>T)
c.1216-23G>T (n.1216-23G>T)
c.1084-23G>T (n.1084-23G>T)
c.1075-23G>T (n.1075-23G>T)
c.913-23G>T (n.913-23G>T)
c.1027-23G>T (n.1027-23G>T)
 gnomAD v4
3g.194604468C=CA1430709447TMEM44c.1018-23G= (n.1018-23G=)
c.1018-27G= (n.1018-27G=)
c.1159-23G= (n.1159-23G=)
c.*314-23G= (n.*314-23G=)
c.214-27G= (n.214-27G=)
c.292-23G= (n.292-23G=)
c.517-23G= (n.517-23G=)
n.64-23G=
n.782-23G=
c.1168-23G= (n.1168-23G=)
c.1105-23G= (n.1105-23G=)
c.1216-23G= (n.1216-23G=)
c.1084-23G= (n.1084-23G=)
c.1075-23G= (n.1075-23G=)
c.913-23G= (n.913-23G=)
c.1027-23G= (n.1027-23G=)
3g.194604468C>TCA1430709448TMEM44c.1018-23G>A (n.1018-23G>A)
c.1018-27G>A (n.1018-27G>A)
c.1159-23G>A (n.1159-23G>A)
c.*314-23G>A (n.*314-23G>A)
c.214-27G>A (n.214-27G>A)
c.292-23G>A (n.292-23G>A)
c.517-23G>A (n.517-23G>A)
n.64-23G>A
n.782-23G>A
c.1168-23G>A (n.1168-23G>A)
c.1105-23G>A (n.1105-23G>A)
c.1216-23G>A (n.1216-23G>A)
c.1084-23G>A (n.1084-23G>A)
c.1075-23G>A (n.1075-23G>A)
c.913-23G>A (n.913-23G>A)
c.1027-23G>A (n.1027-23G>A)
 dbSNP gnomAD v4
3g.194604469A>GCA2669137864TMEM44c.1018-24T>C (n.1018-24T>C)
c.1018-28T>C (n.1018-28T>C)
c.1159-24T>C (n.1159-24T>C)
c.*314-24T>C (n.*314-24T>C)
c.214-28T>C (n.214-28T>C)
c.292-24T>C (n.292-24T>C)
c.517-24T>C (n.517-24T>C)
n.64-24T>C
n.782-24T>C
c.1168-24T>C (n.1168-24T>C)
c.1105-24T>C (n.1105-24T>C)
c.1216-24T>C (n.1216-24T>C)
c.1084-24T>C (n.1084-24T>C)
c.1075-24T>C (n.1075-24T>C)
c.913-24T>C (n.913-24T>C)
c.1027-24T>C (n.1027-24T>C)
 gnomAD v4
3g.194604470G>ACA2669137865TMEM44c.1018-25C>T (n.1018-25C>T)
c.1018-29C>T (n.1018-29C>T)
c.1159-25C>T (n.1159-25C>T)
c.*314-25C>T (n.*314-25C>T)
c.214-29C>T (n.214-29C>T)
c.292-25C>T (n.292-25C>T)
c.517-25C>T (n.517-25C>T)
n.64-25C>T
n.782-25C>T
c.1168-25C>T (n.1168-25C>T)
c.1105-25C>T (n.1105-25C>T)
c.1216-25C>T (n.1216-25C>T)
c.1084-25C>T (n.1084-25C>T)
c.1075-25C>T (n.1075-25C>T)
c.913-25C>T (n.913-25C>T)
c.1027-25C>T (n.1027-25C>T)
 gnomAD v4
3g.194604470G>CCA648100976TMEM44c.1018-25C>G (n.1018-25C>G)
c.1018-29C>G (n.1018-29C>G)
c.1159-25C>G (n.1159-25C>G)
c.*314-25C>G (n.*314-25C>G)
c.214-29C>G (n.214-29C>G)
c.292-25C>G (n.292-25C>G)
c.517-25C>G (n.517-25C>G)
n.64-25C>G
n.782-25C>G
c.1168-25C>G (n.1168-25C>G)
c.1105-25C>G (n.1105-25C>G)
c.1216-25C>G (n.1216-25C>G)
c.1084-25C>G (n.1084-25C>G)
c.1075-25C>G (n.1075-25C>G)
c.913-25C>G (n.913-25C>G)
c.1027-25C>G (n.1027-25C>G)
 COSMIC
3g.194604470G>TCA2669137866TMEM44c.1018-25C>A (n.1018-25C>A)
c.1018-29C>A (n.1018-29C>A)
c.1159-25C>A (n.1159-25C>A)
c.*314-25C>A (n.*314-25C>A)
c.214-29C>A (n.214-29C>A)
c.292-25C>A (n.292-25C>A)
c.517-25C>A (n.517-25C>A)
n.64-25C>A
n.782-25C>A
c.1168-25C>A (n.1168-25C>A)
c.1105-25C>A (n.1105-25C>A)
c.1216-25C>A (n.1216-25C>A)
c.1084-25C>A (n.1084-25C>A)
c.1075-25C>A (n.1075-25C>A)
c.913-25C>A (n.913-25C>A)
c.1027-25C>A (n.1027-25C>A)
 gnomAD v4
3g.194604471G>ACA2669137867TMEM44c.1018-26C>T (n.1018-26C>T)
c.1018-30C>T (n.1018-30C>T)
c.1159-26C>T (n.1159-26C>T)
c.*314-26C>T (n.*314-26C>T)
c.214-30C>T (n.214-30C>T)
c.292-26C>T (n.292-26C>T)
c.517-26C>T (n.517-26C>T)
n.64-26C>T
n.782-26C>T
c.1168-26C>T (n.1168-26C>T)
c.1105-26C>T (n.1105-26C>T)
c.1216-26C>T (n.1216-26C>T)
c.1084-26C>T (n.1084-26C>T)
c.1075-26C>T (n.1075-26C>T)
c.913-26C>T (n.913-26C>T)
c.1027-26C>T (n.1027-26C>T)
 gnomAD v4
3g.194604471G=CA1430709449TMEM44c.1018-26C= (n.1018-26C=)
c.1018-30C= (n.1018-30C=)
c.1159-26C= (n.1159-26C=)
c.*314-26C= (n.*314-26C=)
c.214-30C= (n.214-30C=)
c.292-26C= (n.292-26C=)
c.517-26C= (n.517-26C=)
n.64-26C=
n.782-26C=
c.1168-26C= (n.1168-26C=)
c.1105-26C= (n.1105-26C=)
c.1216-26C= (n.1216-26C=)
c.1084-26C= (n.1084-26C=)
c.1075-26C= (n.1075-26C=)
c.913-26C= (n.913-26C=)
c.1027-26C= (n.1027-26C=)
3g.194604471G>TCA90641578TMEM44c.1018-26C>A (n.1018-26C>A)
c.1018-30C>A (n.1018-30C>A)
c.1159-26C>A (n.1159-26C>A)
c.*314-26C>A (n.*314-26C>A)
c.214-30C>A (n.214-30C>A)
c.292-26C>A (n.292-26C>A)
c.517-26C>A (n.517-26C>A)
n.64-26C>A
n.782-26C>A
c.1168-26C>A (n.1168-26C>A)
c.1105-26C>A (n.1105-26C>A)
c.1216-26C>A (n.1216-26C>A)
c.1084-26C>A (n.1084-26C>A)
c.1075-26C>A (n.1075-26C>A)
c.913-26C>A (n.913-26C>A)
c.1027-26C>A (n.1027-26C>A)
 dbSNP gnomAD v4
3g.194604472C>ACA548848425TMEM44c.1018-27G>T (n.1018-27G>T)
c.1018-31G>T (n.1018-31G>T)
c.1159-27G>T (n.1159-27G>T)
c.*314-27G>T (n.*314-27G>T)
c.214-31G>T (n.214-31G>T)
c.292-27G>T (n.292-27G>T)
c.517-27G>T (n.517-27G>T)
n.64-27G>T
n.782-27G>T
c.1168-27G>T (n.1168-27G>T)
c.1105-27G>T (n.1105-27G>T)
c.1216-27G>T (n.1216-27G>T)
c.1084-27G>T (n.1084-27G>T)
c.1075-27G>T (n.1075-27G>T)
c.913-27G>T (n.913-27G>T)
c.1027-27G>T (n.1027-27G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.194604472C=CA1430709450TMEM44c.1018-27G= (n.1018-27G=)
c.1018-31G= (n.1018-31G=)
c.1159-27G= (n.1159-27G=)
c.*314-27G= (n.*314-27G=)
c.214-31G= (n.214-31G=)
c.292-27G= (n.292-27G=)
c.517-27G= (n.517-27G=)
n.64-27G=
n.782-27G=
c.1168-27G= (n.1168-27G=)
c.1105-27G= (n.1105-27G=)
c.1216-27G= (n.1216-27G=)
c.1084-27G= (n.1084-27G=)
c.1075-27G= (n.1075-27G=)
c.913-27G= (n.913-27G=)
c.1027-27G= (n.1027-27G=)
3g.194604472C>GCA548848426TMEM44c.1018-27G>C (n.1018-27G>C)
c.1018-31G>C (n.1018-31G>C)
c.1159-27G>C (n.1159-27G>C)
c.*314-27G>C (n.*314-27G>C)
c.214-31G>C (n.214-31G>C)
c.292-27G>C (n.292-27G>C)
c.517-27G>C (n.517-27G>C)
n.64-27G>C
n.782-27G>C
c.1168-27G>C (n.1168-27G>C)
c.1105-27G>C (n.1105-27G>C)
c.1216-27G>C (n.1216-27G>C)
c.1084-27G>C (n.1084-27G>C)
c.1075-27G>C (n.1075-27G>C)
c.913-27G>C (n.913-27G>C)
c.1027-27G>C (n.1027-27G>C)
 dbSNP gnomAD v2 gnomAD v4
3g.194604472C>TCA2669137868TMEM44c.1018-27G>A (n.1018-27G>A)
c.1018-31G>A (n.1018-31G>A)
c.1159-27G>A (n.1159-27G>A)
c.*314-27G>A (n.*314-27G>A)
c.214-31G>A (n.214-31G>A)
c.292-27G>A (n.292-27G>A)
c.517-27G>A (n.517-27G>A)
n.64-27G>A
n.782-27G>A
c.1168-27G>A (n.1168-27G>A)
c.1105-27G>A (n.1105-27G>A)
c.1216-27G>A (n.1216-27G>A)
c.1084-27G>A (n.1084-27G>A)
c.1075-27G>A (n.1075-27G>A)
c.913-27G>A (n.913-27G>A)
c.1027-27G>A (n.1027-27G>A)
 gnomAD v4
3g.194604474A>GCA2669137869TMEM44c.1018-29T>C (n.1018-29T>C)
c.1018-33T>C (n.1018-33T>C)
c.1159-29T>C (n.1159-29T>C)
c.*314-29T>C (n.*314-29T>C)
c.214-33T>C (n.214-33T>C)
c.292-29T>C (n.292-29T>C)
c.517-29T>C (n.517-29T>C)
n.64-29T>C
n.782-29T>C
c.1168-29T>C (n.1168-29T>C)
c.1105-29T>C (n.1105-29T>C)
c.1216-29T>C (n.1216-29T>C)
c.1084-29T>C (n.1084-29T>C)
c.1075-29T>C (n.1075-29T>C)
c.913-29T>C (n.913-29T>C)
c.1027-29T>C (n.1027-29T>C)
 gnomAD v4
3g.194604475G>CCA904633076TMEM44c.1018-30C>G (n.1018-30C>G)
c.1018-34C>G (n.1018-34C>G)
c.1159-30C>G (n.1159-30C>G)
c.*314-30C>G (n.*314-30C>G)
c.214-34C>G (n.214-34C>G)
c.292-30C>G (n.292-30C>G)
c.517-30C>G (n.517-30C>G)
n.64-30C>G
n.782-30C>G
c.1168-30C>G (n.1168-30C>G)
c.1105-30C>G (n.1105-30C>G)
c.1216-30C>G (n.1216-30C>G)
c.1084-30C>G (n.1084-30C>G)
c.1075-30C>G (n.1075-30C>G)
c.913-30C>G (n.913-30C>G)
c.1027-30C>G (n.1027-30C>G)
 dbSNP gnomAD v3 gnomAD v4
3g.194604475G=CA1430709451TMEM44c.1018-30C= (n.1018-30C=)
c.1018-34C= (n.1018-34C=)
c.1159-30C= (n.1159-30C=)
c.*314-30C= (n.*314-30C=)
c.214-34C= (n.214-34C=)
c.292-30C= (n.292-30C=)
c.517-30C= (n.517-30C=)
n.64-30C=
n.782-30C=
c.1168-30C= (n.1168-30C=)
c.1105-30C= (n.1105-30C=)
c.1216-30C= (n.1216-30C=)
c.1084-30C= (n.1084-30C=)
c.1075-30C= (n.1075-30C=)
c.913-30C= (n.913-30C=)
c.1027-30C= (n.1027-30C=)
3g.194604475G>TCA2669137870TMEM44c.1018-30C>A (n.1018-30C>A)
c.1018-34C>A (n.1018-34C>A)
c.1159-30C>A (n.1159-30C>A)
c.*314-30C>A (n.*314-30C>A)
c.214-34C>A (n.214-34C>A)
c.292-30C>A (n.292-30C>A)
c.517-30C>A (n.517-30C>A)
n.64-30C>A
n.782-30C>A
c.1168-30C>A (n.1168-30C>A)
c.1105-30C>A (n.1105-30C>A)
c.1216-30C>A (n.1216-30C>A)
c.1084-30C>A (n.1084-30C>A)
c.1075-30C>A (n.1075-30C>A)
c.913-30C>A (n.913-30C>A)
c.1027-30C>A (n.1027-30C>A)
 gnomAD v4
3g.194604476G>ACA548848427TMEM44c.1018-31C>T (n.1018-31C>T)
c.1018-35C>T (n.1018-35C>T)
c.1159-31C>T (n.1159-31C>T)
c.*314-31C>T (n.*314-31C>T)
c.214-35C>T (n.214-35C>T)
c.292-31C>T (n.292-31C>T)
c.517-31C>T (n.517-31C>T)
n.64-31C>T
n.782-31C>T
c.1168-31C>T (n.1168-31C>T)
c.1105-31C>T (n.1105-31C>T)
c.1216-31C>T (n.1216-31C>T)
c.1084-31C>T (n.1084-31C>T)
c.1075-31C>T (n.1075-31C>T)
c.913-31C>T (n.913-31C>T)
c.1027-31C>T (n.1027-31C>T)
 dbSNP gnomAD v2 gnomAD v4
3g.194604476G=CA1430709453TMEM44c.1018-31C= (n.1018-31C=)
c.1018-35C= (n.1018-35C=)
c.1159-31C= (n.1159-31C=)
c.*314-31C= (n.*314-31C=)
c.214-35C= (n.214-35C=)
c.292-31C= (n.292-31C=)
c.517-31C= (n.517-31C=)
n.64-31C=
n.782-31C=
c.1168-31C= (n.1168-31C=)
c.1105-31C= (n.1105-31C=)
c.1216-31C= (n.1216-31C=)
c.1084-31C= (n.1084-31C=)
c.1075-31C= (n.1075-31C=)
c.913-31C= (n.913-31C=)
c.1027-31C= (n.1027-31C=)
3g.194604476G>TCA2669137871TMEM44c.1018-31C>A (n.1018-31C>A)
c.1018-35C>A (n.1018-35C>A)
c.1159-31C>A (n.1159-31C>A)
c.*314-31C>A (n.*314-31C>A)
c.214-35C>A (n.214-35C>A)
c.292-31C>A (n.292-31C>A)
c.517-31C>A (n.517-31C>A)
n.64-31C>A
n.782-31C>A
c.1168-31C>A (n.1168-31C>A)
c.1105-31C>A (n.1105-31C>A)
c.1216-31C>A (n.1216-31C>A)
c.1084-31C>A (n.1084-31C>A)
c.1075-31C>A (n.1075-31C>A)
c.913-31C>A (n.913-31C>A)
c.1027-31C>A (n.1027-31C>A)
 gnomAD v4

Number of alleles fetched