Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.44145170_44145588delCA2573142177GCKc.*1163_*1365del
c.*285_*487del
n.391_593del
c.199_401del
c.1168_1370del
c.1165_1367del
c.1228_1430del
n.177_379del
c.217_419del
c.1162_1364del
c.1114_1316del
n.545_747del
c.154_356del
c.25_227del
 ClinVar
7g.44145489_44145563dupCA2580618176GCKc.*1188_*1251+11dup
c.*310_*373+11dup
n.416_479+11dup
c.224_287+11dup
c.1193_1256+11dup
c.1190_1253+11dup
c.1253_1316+11dup
n.202_265+11dup
c.242_305+11dup
c.1187_1250+11dup
c.1139_1202+11dup
n.570_633+11dup
c.179_242+11dup
c.50_113+11dup
 ClinVar
7g.44145521_44145539delCA2695202980GCKc.*1209_*1227del (n.*1209_*1227del)
c.*331_*349del (n.*331_*349del)
n.437_455del
c.245_263del (p.Ile82ThrfsTer21)
c.1214_1232del (p.Ile405ThrfsTer21)
c.1211_1229del (p.Ile404ThrfsTer21)
c.1274_1292del (p.Ile425ThrfsTer21)
n.223_241del
c.263_281del (p.Ile88ThrfsTer21)
c.1208_1226del (p.Ile403ThrfsTer21)
c.1160_1178del (p.Ile387ThrfsTer21)
n.591_609del
c.200_218del (p.Ile67ThrfsTer21)
c.71_89del (p.Ile24ThrfsTer21)
7g.44145527_44145531delCA2695202982GCKc.*1219_*1223del (n.*1219_*1223del)
c.*341_*345del (n.*341_*345del)
n.447_451del
c.255_259del (p.Val86TrpfsTer?)
c.1224_1228del (p.Val409TrpfsTer?)
c.1221_1225del (p.Val408TrpfsTer?)
c.1284_1288del (p.Val429TrpfsTer?)
n.233_237del
c.273_277del (p.Val92TrpfsTer?)
c.1218_1222del (p.Val407TrpfsTer?)
c.1170_1174del (p.Val391TrpfsTer?)
n.601_605del
c.210_214del (p.Val71TrpfsTer?)
c.81_85del (p.Val28TrpfsTer?)
7g.44145526C>ACA454863132GCKc.*1222G>T (n.*1222G>T)
c.*344G>T (n.*344G>T)
n.450G>T
c.258G>T (p.Val86=)
c.1227G>T (p.Val409=)
c.1224G>T (p.Val408=)
c.1287G>T (p.Val429=)
n.236G>T
c.276G>T (p.Val92=)
c.1221G>T (p.Val407=)
c.1173G>T (p.Val391=)
n.604G>T
c.213G>T (p.Val71=)
c.84G>T (p.Val28=)
7g.44145526C=CA1703612856GCKc.*1222G= (n.*1222G=)
c.*344G= (n.*344G=)
n.450G=
c.258G= (p.Val86=)
c.1227G= (p.Val409=)
c.1224G= (p.Val408=)
c.1287G= (p.Val429=)
n.236G=
c.276G= (p.Val92=)
c.1221G= (p.Val407=)
c.1173G= (p.Val391=)
n.604G=
c.213G= (p.Val71=)
c.84G= (p.Val28=)
7g.44145526C>GCA454863133GCKc.*1222G>C (n.*1222G>C)
c.*344G>C (n.*344G>C)
n.450G>C
c.258G>C (p.Val86=)
c.1227G>C (p.Val409=)
c.1224G>C (p.Val408=)
c.1287G>C (p.Val429=)
n.236G>C
c.276G>C (p.Val92=)
c.1221G>C (p.Val407=)
c.1173G>C (p.Val391=)
n.604G>C
c.213G>C (p.Val71=)
c.84G>C (p.Val28=)
7g.44145526C>TCA454863134GCKc.*1222G>A (n.*1222G>A)
c.*344G>A (n.*344G>A)
n.450G>A
c.258G>A (p.Val86=)
c.1227G>A (p.Val409=)
c.1224G>A (p.Val408=)
c.1287G>A (p.Val429=)
n.236G>A
c.276G>A (p.Val92=)
c.1221G>A (p.Val407=)
c.1173G>A (p.Val391=)
n.604G>A
c.213G>A (p.Val71=)
c.84G>A (p.Val28=)
 dbSNP
7g.44145527A>CCA367398334GCKc.*1221T>G (n.*1221T>G)
c.*343T>G (n.*343T>G)
n.449T>G
c.257T>G (p.Val86Gly)
c.1226T>G (p.Val409Gly)
c.1223T>G (p.Val408Gly)
c.1286T>G (p.Val429Gly)
n.235T>G
c.275T>G (p.Val92Gly)
c.1220T>G (p.Val407Gly)
c.1172T>G (p.Val391Gly)
n.603T>G
c.212T>G (p.Val71Gly)
c.83T>G (p.Val28Gly)
7g.44145527A>GCA367398338GCKc.*1221T>C (n.*1221T>C)
c.*343T>C (n.*343T>C)
n.449T>C
c.257T>C (p.Val86Ala)
c.1226T>C (p.Val409Ala)
c.1223T>C (p.Val408Ala)
c.1286T>C (p.Val429Ala)
n.235T>C
c.275T>C (p.Val92Ala)
c.1220T>C (p.Val407Ala)
c.1172T>C (p.Val391Ala)
n.603T>C
c.212T>C (p.Val71Ala)
c.83T>C (p.Val28Ala)
7g.44145527A>TCA367398336GCKc.*1221T>A (n.*1221T>A)
c.*343T>A (n.*343T>A)
n.449T>A
c.257T>A (p.Val86Glu)
c.1226T>A (p.Val409Glu)
c.1223T>A (p.Val408Glu)
c.1286T>A (p.Val429Glu)
n.235T>A
c.275T>A (p.Val92Glu)
c.1220T>A (p.Val407Glu)
c.1172T>A (p.Val391Glu)
n.603T>A
c.212T>A (p.Val71Glu)
c.83T>A (p.Val28Glu)
7g.44145528C>ACA367398341GCKc.*1220G>T (n.*1220G>T)
c.*342G>T (n.*342G>T)
n.448G>T
c.256G>T (p.Val86Leu)
c.1225G>T (p.Val409Leu)
c.1222G>T (p.Val408Leu)
c.1285G>T (p.Val429Leu)
n.234G>T
c.274G>T (p.Val92Leu)
c.1219G>T (p.Val407Leu)
c.1171G>T (p.Val391Leu)
n.602G>T
c.211G>T (p.Val71Leu)
c.82G>T (p.Val28Leu)
7g.44145528C=CA1703612857GCKc.*1220G= (n.*1220G=)
c.*342G= (n.*342G=)
n.448G=
c.256G= (p.Val86=)
c.1225G= (p.Val409=)
c.1222G= (p.Val408=)
c.1285G= (p.Val429=)
n.234G=
c.274G= (p.Val92=)
c.1219G= (p.Val407=)
c.1171G= (p.Val391=)
n.602G=
c.211G= (p.Val71=)
c.82G= (p.Val28=)
7g.44145528C>GCA367398344GCKc.*1220G>C (n.*1220G>C)
c.*342G>C (n.*342G>C)
n.448G>C
c.256G>C (p.Val86Leu)
c.1225G>C (p.Val409Leu)
c.1222G>C (p.Val408Leu)
c.1285G>C (p.Val429Leu)
n.234G>C
c.274G>C (p.Val92Leu)
c.1219G>C (p.Val407Leu)
c.1171G>C (p.Val391Leu)
n.602G>C
c.211G>C (p.Val71Leu)
c.82G>C (p.Val28Leu)
7g.44145528C>TCA367398343GCKc.*1220G>A (n.*1220G>A)
c.*342G>A (n.*342G>A)
n.448G>A
c.256G>A (p.Val86Met)
c.1225G>A (p.Val409Met)
c.1222G>A (p.Val408Met)
c.1285G>A (p.Val429Met)
n.234G>A
c.274G>A (p.Val92Met)
c.1219G>A (p.Val407Met)
c.1171G>A (p.Val391Met)
n.602G>A
c.211G>A (p.Val71Met)
c.82G>A (p.Val28Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.44145529G>ACA454863135GCKc.*1219C>T (n.*1219C>T)
c.*341C>T (n.*341C>T)
n.447C>T
c.255C>T (p.Gly85=)
c.1224C>T (p.Gly408=)
c.1221C>T (p.Gly407=)
c.1284C>T (p.Gly428=)
n.233C>T
c.273C>T (p.Gly91=)
c.1218C>T (p.Gly406=)
c.1170C>T (p.Gly390=)
n.601C>T
c.210C>T (p.Gly70=)
c.81C>T (p.Gly27=)
 gnomAD v4 COSMIC COSMIC COSMIC
7g.44145529G>CCA454863136GCKc.*1219C>G (n.*1219C>G)
c.*341C>G (n.*341C>G)
n.447C>G
c.255C>G (p.Gly85=)
c.1224C>G (p.Gly408=)
c.1221C>G (p.Gly407=)
c.1284C>G (p.Gly428=)
n.233C>G
c.273C>G (p.Gly91=)
c.1218C>G (p.Gly406=)
c.1170C>G (p.Gly390=)
n.601C>G
c.210C>G (p.Gly70=)
c.81C>G (p.Gly27=)
7g.44145529G=CA1703612858GCKc.*1219C= (n.*1219C=)
c.*341C= (n.*341C=)
n.447C=
c.255C= (p.Gly85=)
c.1224C= (p.Gly408=)
c.1221C= (p.Gly407=)
c.1284C= (p.Gly428=)
n.233C=
c.273C= (p.Gly91=)
c.1218C= (p.Gly406=)
c.1170C= (p.Gly390=)
n.601C=
c.210C= (p.Gly70=)
c.81C= (p.Gly27=)
7g.44145529G>TCA4239412GCKc.*1219C>A (n.*1219C>A)
c.*341C>A (n.*341C>A)
n.447C>A
c.255C>A (p.Gly85=)
c.1224C>A (p.Gly408=)
c.1221C>A (p.Gly407=)
c.1284C>A (p.Gly428=)
n.233C>A
c.273C>A (p.Gly91=)
c.1218C>A (p.Gly406=)
c.1170C>A (p.Gly390=)
n.601C>A
c.210C>A (p.Gly70=)
c.81C>A (p.Gly27=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.44145530C>ACA367398345GCKc.*1218G>T (n.*1218G>T)
c.*340G>T (n.*340G>T)
n.446G>T
c.254G>T (p.Gly85Val)
c.1223G>T (p.Gly408Val)
c.1220G>T (p.Gly407Val)
c.1283G>T (p.Gly428Val)
n.232G>T
c.272G>T (p.Gly91Val)
c.1217G>T (p.Gly406Val)
c.1169G>T (p.Gly390Val)
n.600G>T
c.209G>T (p.Gly70Val)
c.80G>T (p.Gly27Val)
7g.44145530C>GCA367398348GCKc.*1218G>C (n.*1218G>C)
c.*340G>C (n.*340G>C)
n.446G>C
c.254G>C (p.Gly85Ala)
c.1223G>C (p.Gly408Ala)
c.1220G>C (p.Gly407Ala)
c.1283G>C (p.Gly428Ala)
n.232G>C
c.272G>C (p.Gly91Ala)
c.1217G>C (p.Gly406Ala)
c.1169G>C (p.Gly390Ala)
n.600G>C
c.209G>C (p.Gly70Ala)
c.80G>C (p.Gly27Ala)
7g.44145530C>TCA367398350GCKc.*1218G>A (n.*1218G>A)
c.*340G>A (n.*340G>A)
n.446G>A
c.254G>A (p.Gly85Asp)
c.1223G>A (p.Gly408Asp)
c.1220G>A (p.Gly407Asp)
c.1283G>A (p.Gly428Asp)
n.232G>A
c.272G>A (p.Gly91Asp)
c.1217G>A (p.Gly406Asp)
c.1169G>A (p.Gly390Asp)
n.600G>A
c.209G>A (p.Gly70Asp)
c.80G>A (p.Gly27Asp)
 ClinVar
7g.44145531C>ACA367398353GCKc.*1217G>T (n.*1217G>T)
c.*339G>T (n.*339G>T)
n.445G>T
c.253G>T (p.Gly85Cys)
c.1222G>T (p.Gly408Cys)
c.1219G>T (p.Gly407Cys)
c.1282G>T (p.Gly428Cys)
n.231G>T
c.271G>T (p.Gly91Cys)
c.1216G>T (p.Gly406Cys)
c.1168G>T (p.Gly390Cys)
n.599G>T
c.208G>T (p.Gly70Cys)
c.79G>T (p.Gly27Cys)
 gnomAD v4
7g.44145531C=CA1703612859GCKc.*1217G= (n.*1217G=)
c.*339G= (n.*339G=)
n.445G=
c.253G= (p.Gly85=)
c.1222G= (p.Gly408=)
c.1219G= (p.Gly407=)
c.1282G= (p.Gly428=)
n.231G=
c.271G= (p.Gly91=)
c.1216G= (p.Gly406=)
c.1168G= (p.Gly390=)
n.599G=
c.208G= (p.Gly70=)
c.79G= (p.Gly27=)
7g.44145531C>GCA367398355GCKc.*1217G>C (n.*1217G>C)
c.*339G>C (n.*339G>C)
n.445G>C
c.253G>C (p.Gly85Arg)
c.1222G>C (p.Gly408Arg)
c.1219G>C (p.Gly407Arg)
c.1282G>C (p.Gly428Arg)
n.231G>C
c.271G>C (p.Gly91Arg)
c.1216G>C (p.Gly406Arg)
c.1168G>C (p.Gly390Arg)
n.599G>C
c.208G>C (p.Gly70Arg)
c.79G>C (p.Gly27Arg)
 ClinVar
7g.44145531C>TCA367398357GCKc.*1217G>A (n.*1217G>A)
c.*339G>A (n.*339G>A)
n.445G>A
c.253G>A (p.Gly85Ser)
c.1222G>A (p.Gly408Ser)
c.1219G>A (p.Gly407Ser)
c.1282G>A (p.Gly428Ser)
n.231G>A
c.271G>A (p.Gly91Ser)
c.1216G>A (p.Gly406Ser)
c.1168G>A (p.Gly390Ser)
n.599G>A
c.208G>A (p.Gly70Ser)
c.79G>A (p.Gly27Ser)
 ClinVar dbSNP
7g.44145532_44145534dupCA2499218894GCKc.*1215_*1217dup (n.*1215_*1217dup)
c.*337_*339dup (n.*337_*339dup)
n.443_445dup
c.251_253dup (p.Val84_Gly85insVal)
c.1220_1222dup (p.Val407_Gly408insVal)
c.1217_1219dup (p.Val406_Gly407insVal)
c.1280_1282dup (p.Val427_Gly428insVal)
n.229_231dup
c.269_271dup (p.Val90_Gly91insVal)
c.1214_1216dup (p.Val405_Gly406insVal)
c.1166_1168dup (p.Val389_Gly390insVal)
n.597_599dup
c.206_208dup (p.Val69_Gly70insVal)
c.77_79dup (p.Val26_Gly27insVal)
 ClinVar dbSNP
7g.44145532C>ACA454863141GCKc.*1216G>T (n.*1216G>T)
c.*338G>T (n.*338G>T)
n.444G>T
c.252G>T (p.Val84=)
c.1221G>T (p.Val407=)
c.1218G>T (p.Val406=)
c.1281G>T (p.Val427=)
n.230G>T
c.270G>T (p.Val90=)
c.1215G>T (p.Val405=)
c.1167G>T (p.Val389=)
n.598G>T
c.207G>T (p.Val69=)
c.78G>T (p.Val26=)
 dbSNP gnomAD v4
7g.44145532C=CA1703612860GCKc.*1216G= (n.*1216G=)
c.*338G= (n.*338G=)
n.444G=
c.252G= (p.Val84=)
c.1221G= (p.Val407=)
c.1218G= (p.Val406=)
c.1281G= (p.Val427=)
n.230G=
c.270G= (p.Val90=)
c.1215G= (p.Val405=)
c.1167G= (p.Val389=)
n.598G=
c.207G= (p.Val69=)
c.78G= (p.Val26=)
7g.44145532C>GCA454863142GCKc.*1216G>C (n.*1216G>C)
c.*338G>C (n.*338G>C)
n.444G>C
c.252G>C (p.Val84=)
c.1221G>C (p.Val407=)
c.1218G>C (p.Val406=)
c.1281G>C (p.Val427=)
n.230G>C
c.270G>C (p.Val90=)
c.1215G>C (p.Val405=)
c.1167G>C (p.Val389=)
n.598G>C
c.207G>C (p.Val69=)
c.78G>C (p.Val26=)
7g.44145532C>TCA454863140GCKc.*1216G>A (n.*1216G>A)
c.*338G>A (n.*338G>A)
n.444G>A
c.252G>A (p.Val84=)
c.1221G>A (p.Val407=)
c.1218G>A (p.Val406=)
c.1281G>A (p.Val427=)
n.230G>A
c.270G>A (p.Val90=)
c.1215G>A (p.Val405=)
c.1167G>A (p.Val389=)
n.598G>A
c.207G>A (p.Val69=)
c.78G>A (p.Val26=)
7g.44145533A>CCA367398360GCKc.*1215T>G (n.*1215T>G)
c.*337T>G (n.*337T>G)
n.443T>G
c.251T>G (p.Val84Gly)
c.1220T>G (p.Val407Gly)
c.1217T>G (p.Val406Gly)
c.1280T>G (p.Val427Gly)
n.229T>G
c.269T>G (p.Val90Gly)
c.1214T>G (p.Val405Gly)
c.1166T>G (p.Val389Gly)
n.597T>G
c.206T>G (p.Val69Gly)
c.77T>G (p.Val26Gly)
7g.44145533A>GCA367398363GCKc.*1215T>C (n.*1215T>C)
c.*337T>C (n.*337T>C)
n.443T>C
c.251T>C (p.Val84Ala)
c.1220T>C (p.Val407Ala)
c.1217T>C (p.Val406Ala)
c.1280T>C (p.Val427Ala)
n.229T>C
c.269T>C (p.Val90Ala)
c.1214T>C (p.Val405Ala)
c.1166T>C (p.Val389Ala)
n.597T>C
c.206T>C (p.Val69Ala)
c.77T>C (p.Val26Ala)
 ClinVar
7g.44145533A>TCA367398365GCKc.*1215T>A (n.*1215T>A)
c.*337T>A (n.*337T>A)
n.443T>A
c.251T>A (p.Val84Glu)
c.1220T>A (p.Val407Glu)
c.1217T>A (p.Val406Glu)
c.1280T>A (p.Val427Glu)
n.229T>A
c.269T>A (p.Val90Glu)
c.1214T>A (p.Val405Glu)
c.1166T>A (p.Val389Glu)
n.597T>A
c.206T>A (p.Val69Glu)
c.77T>A (p.Val26Glu)
7g.44145534C>ACA367398371GCKc.*1214G>T (n.*1214G>T)
c.*336G>T (n.*336G>T)
n.442G>T
c.250G>T (p.Val84Leu)
c.1219G>T (p.Val407Leu)
c.1216G>T (p.Val406Leu)
c.1279G>T (p.Val427Leu)
n.228G>T
c.268G>T (p.Val90Leu)
c.1213G>T (p.Val405Leu)
c.1165G>T (p.Val389Leu)
n.596G>T
c.205G>T (p.Val69Leu)
c.76G>T (p.Val26Leu)
 gnomAD v4
7g.44145534C>GCA367398370GCKc.*1214G>C (n.*1214G>C)
c.*336G>C (n.*336G>C)
n.442G>C
c.250G>C (p.Val84Leu)
c.1219G>C (p.Val407Leu)
c.1216G>C (p.Val406Leu)
c.1279G>C (p.Val427Leu)
n.228G>C
c.268G>C (p.Val90Leu)
c.1213G>C (p.Val405Leu)
c.1165G>C (p.Val389Leu)
n.596G>C
c.205G>C (p.Val69Leu)
c.76G>C (p.Val26Leu)
7g.44145534C>TCA367398367GCKc.*1214G>A (n.*1214G>A)
c.*336G>A (n.*336G>A)
n.442G>A
c.250G>A (p.Val84Met)
c.1219G>A (p.Val407Met)
c.1216G>A (p.Val406Met)
c.1279G>A (p.Val427Met)
n.228G>A
c.268G>A (p.Val90Met)
c.1213G>A (p.Val405Met)
c.1165G>A (p.Val389Met)
n.596G>A
c.205G>A (p.Val69Met)
c.76G>A (p.Val26Met)
 ClinVar dbSNP gnomAD v4
7g.44145535A=CA1703612861GCKc.*1213T= (n.*1213T=)
c.*335T= (n.*335T=)
n.441T=
c.249T= (p.Thr83=)
c.1218T= (p.Thr406=)
c.1215T= (p.Thr405=)
c.1278T= (p.Thr426=)
n.227T=
c.267T= (p.Thr89=)
c.1212T= (p.Thr404=)
c.1164T= (p.Thr388=)
n.595T=
c.204T= (p.Thr68=)
c.75T= (p.Thr25=)
7g.44145535A>CCA454863143GCKc.*1213T>G (n.*1213T>G)
c.*335T>G (n.*335T>G)
n.441T>G
c.249T>G (p.Thr83=)
c.1218T>G (p.Thr406=)
c.1215T>G (p.Thr405=)
c.1278T>G (p.Thr426=)
n.227T>G
c.267T>G (p.Thr89=)
c.1212T>G (p.Thr404=)
c.1164T>G (p.Thr388=)
n.595T>G
c.204T>G (p.Thr68=)
c.75T>G (p.Thr25=)
7g.44145535A>GCA4239413GCKc.*1213T>C (n.*1213T>C)
c.*335T>C (n.*335T>C)
n.441T>C
c.249T>C (p.Thr83=)
c.1218T>C (p.Thr406=)
c.1215T>C (p.Thr405=)
c.1278T>C (p.Thr426=)
n.227T>C
c.267T>C (p.Thr89=)
c.1212T>C (p.Thr404=)
c.1164T>C (p.Thr388=)
n.595T>C
c.204T>C (p.Thr68=)
c.75T>C (p.Thr25=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.44145535A>TCA454863144GCKc.*1213T>A (n.*1213T>A)
c.*335T>A (n.*335T>A)
n.441T>A
c.249T>A (p.Thr83=)
c.1218T>A (p.Thr406=)
c.1215T>A (p.Thr405=)
c.1278T>A (p.Thr426=)
n.227T>A
c.267T>A (p.Thr89=)
c.1212T>A (p.Thr404=)
c.1164T>A (p.Thr388=)
n.595T>A
c.204T>A (p.Thr68=)
c.75T>A (p.Thr25=)
 gnomAD v4
7g.44145536G>ACA367398375GCKc.*1212C>T (n.*1212C>T)
c.*334C>T (n.*334C>T)
n.440C>T
c.248C>T (p.Thr83Ile)
c.1217C>T (p.Thr406Ile)
c.1214C>T (p.Thr405Ile)
c.1277C>T (p.Thr426Ile)
n.226C>T
c.266C>T (p.Thr89Ile)
c.1211C>T (p.Thr404Ile)
c.1163C>T (p.Thr388Ile)
n.594C>T
c.203C>T (p.Thr68Ile)
c.74C>T (p.Thr25Ile)
7g.44145536G>CCA367398377GCKc.*1212C>G (n.*1212C>G)
c.*334C>G (n.*334C>G)
n.440C>G
c.248C>G (p.Thr83Ser)
c.1217C>G (p.Thr406Ser)
c.1214C>G (p.Thr405Ser)
c.1277C>G (p.Thr426Ser)
n.226C>G
c.266C>G (p.Thr89Ser)
c.1211C>G (p.Thr404Ser)
c.1163C>G (p.Thr388Ser)
n.594C>G
c.203C>G (p.Thr68Ser)
c.74C>G (p.Thr25Ser)
7g.44145536G>TCA367398380GCKc.*1212C>A (n.*1212C>A)
c.*334C>A (n.*334C>A)
n.440C>A
c.248C>A (p.Thr83Asn)
c.1217C>A (p.Thr406Asn)
c.1214C>A (p.Thr405Asn)
c.1277C>A (p.Thr426Asn)
n.226C>A
c.266C>A (p.Thr89Asn)
c.1211C>A (p.Thr404Asn)
c.1163C>A (p.Thr388Asn)
n.594C>A
c.203C>A (p.Thr68Asn)
c.74C>A (p.Thr25Asn)
 gnomAD v4
7g.44145537T>ACA367398382GCKc.*1211A>T (n.*1211A>T)
c.*333A>T (n.*333A>T)
n.439A>T
c.247A>T (p.Thr83Ser)
c.1216A>T (p.Thr406Ser)
c.1213A>T (p.Thr405Ser)
c.1276A>T (p.Thr426Ser)
n.225A>T
c.265A>T (p.Thr89Ser)
c.1210A>T (p.Thr404Ser)
c.1162A>T (p.Thr388Ser)
n.593A>T
c.202A>T (p.Thr68Ser)
c.73A>T (p.Thr25Ser)
7g.44145537T>CCA367398384GCKc.*1211A>G (n.*1211A>G)
c.*333A>G (n.*333A>G)
n.439A>G
c.247A>G (p.Thr83Ala)
c.1216A>G (p.Thr406Ala)
c.1213A>G (p.Thr405Ala)
c.1276A>G (p.Thr426Ala)
n.225A>G
c.265A>G (p.Thr89Ala)
c.1210A>G (p.Thr404Ala)
c.1162A>G (p.Thr388Ala)
n.593A>G
c.202A>G (p.Thr68Ala)
c.73A>G (p.Thr25Ala)
 ClinVar
7g.44145537T>GCA367398392GCKc.*1211A>C (n.*1211A>C)
c.*333A>C (n.*333A>C)
n.439A>C
c.247A>C (p.Thr83Pro)
c.1216A>C (p.Thr406Pro)
c.1213A>C (p.Thr405Pro)
c.1276A>C (p.Thr426Pro)
n.225A>C
c.265A>C (p.Thr89Pro)
c.1210A>C (p.Thr404Pro)
c.1162A>C (p.Thr388Pro)
n.593A>C
c.202A>C (p.Thr68Pro)
c.73A>C (p.Thr25Pro)
7g.44145538G>ACA454863145GCKc.*1210C>T (n.*1210C>T)
c.*332C>T (n.*332C>T)
n.438C>T
c.246C>T (p.Ile82=)
c.1215C>T (p.Ile405=)
c.1212C>T (p.Ile404=)
c.1275C>T (p.Ile425=)
n.224C>T
c.264C>T (p.Ile88=)
c.1209C>T (p.Ile403=)
c.1161C>T (p.Ile387=)
n.592C>T
c.201C>T (p.Ile67=)
c.72C>T (p.Ile24=)
 dbSNP gnomAD v2 gnomAD v4
7g.44145538G>CCA367398396GCKc.*1210C>G (n.*1210C>G)
c.*332C>G (n.*332C>G)
n.438C>G
c.246C>G (p.Ile82Met)
c.1215C>G (p.Ile405Met)
c.1212C>G (p.Ile404Met)
c.1275C>G (p.Ile425Met)
n.224C>G
c.264C>G (p.Ile88Met)
c.1209C>G (p.Ile403Met)
c.1161C>G (p.Ile387Met)
n.592C>G
c.201C>G (p.Ile67Met)
c.72C>G (p.Ile24Met)
7g.44145538G=CA1703612862GCKc.*1210C= (n.*1210C=)
c.*332C= (n.*332C=)
n.438C=
c.246C= (p.Ile82=)
c.1215C= (p.Ile405=)
c.1212C= (p.Ile404=)
c.1275C= (p.Ile425=)
n.224C=
c.264C= (p.Ile88=)
c.1209C= (p.Ile403=)
c.1161C= (p.Ile387=)
n.592C=
c.201C= (p.Ile67=)
c.72C= (p.Ile24=)
7g.44145538G>TCA454863146GCKc.*1210C>A (n.*1210C>A)
c.*332C>A (n.*332C>A)
n.438C>A
c.246C>A (p.Ile82=)
c.1215C>A (p.Ile405=)
c.1212C>A (p.Ile404=)
c.1275C>A (p.Ile425=)
n.224C>A
c.264C>A (p.Ile88=)
c.1209C>A (p.Ile403=)
c.1161C>A (p.Ile387=)
n.592C>A
c.201C>A (p.Ile67=)
c.72C>A (p.Ile24=)
 gnomAD v4
7g.44145539A>CCA367398398GCKc.*1209T>G (n.*1209T>G)
c.*331T>G (n.*331T>G)
n.437T>G
c.245T>G (p.Ile82Ser)
c.1214T>G (p.Ile405Ser)
c.1211T>G (p.Ile404Ser)
c.1274T>G (p.Ile425Ser)
n.223T>G
c.263T>G (p.Ile88Ser)
c.1208T>G (p.Ile403Ser)
c.1160T>G (p.Ile387Ser)
n.591T>G
c.200T>G (p.Ile67Ser)
c.71T>G (p.Ile24Ser)
7g.44145539A>GCA367398400GCKc.*1209T>C (n.*1209T>C)
c.*331T>C (n.*331T>C)
n.437T>C
c.245T>C (p.Ile82Thr)
c.1214T>C (p.Ile405Thr)
c.1211T>C (p.Ile404Thr)
c.1274T>C (p.Ile425Thr)
n.223T>C
c.263T>C (p.Ile88Thr)
c.1208T>C (p.Ile403Thr)
c.1160T>C (p.Ile387Thr)
n.591T>C
c.200T>C (p.Ile67Thr)
c.71T>C (p.Ile24Thr)
7g.44145539A>TCA367398401GCKc.*1209T>A (n.*1209T>A)
c.*331T>A (n.*331T>A)
n.437T>A
c.245T>A (p.Ile82Asn)
c.1214T>A (p.Ile405Asn)
c.1211T>A (p.Ile404Asn)
c.1274T>A (p.Ile425Asn)
n.223T>A
c.263T>A (p.Ile88Asn)
c.1208T>A (p.Ile403Asn)
c.1160T>A (p.Ile387Asn)
n.591T>A
c.200T>A (p.Ile67Asn)
c.71T>A (p.Ile24Asn)
7g.44145539_44145540delCA2695202984GCKc.*1208_*1209del (n.*1208_*1209del)
c.*330_*331del (n.*330_*331del)
n.436_437del
c.244_245del (p.Ile82HisfsTer?)
c.1213_1214del (p.Ile405HisfsTer?)
c.1210_1211del (p.Ile404HisfsTer?)
c.1273_1274del (p.Ile425HisfsTer?)
n.222_223del
c.262_263del (p.Ile88HisfsTer?)
c.1207_1208del (p.Ile403HisfsTer?)
c.1159_1160del (p.Ile387HisfsTer?)
n.590_591del
c.199_200del (p.Ile67HisfsTer?)
c.70_71del (p.Ile24HisfsTer?)
7g.44145540T>ACA367398409GCKc.*1208A>T (n.*1208A>T)
c.*330A>T (n.*330A>T)
n.436A>T
c.244A>T (p.Ile82Phe)
c.1213A>T (p.Ile405Phe)
c.1210A>T (p.Ile404Phe)
c.1273A>T (p.Ile425Phe)
n.222A>T
c.262A>T (p.Ile88Phe)
c.1207A>T (p.Ile403Phe)
c.1159A>T (p.Ile387Phe)
n.590A>T
c.199A>T (p.Ile67Phe)
c.70A>T (p.Ile24Phe)
7g.44145540T>CCA367398411GCKc.*1208A>G (n.*1208A>G)
c.*330A>G (n.*330A>G)
n.436A>G
c.244A>G (p.Ile82Val)
c.1213A>G (p.Ile405Val)
c.1210A>G (p.Ile404Val)
c.1273A>G (p.Ile425Val)
n.222A>G
c.262A>G (p.Ile88Val)
c.1207A>G (p.Ile403Val)
c.1159A>G (p.Ile387Val)
n.590A>G
c.199A>G (p.Ile67Val)
c.70A>G (p.Ile24Val)
7g.44145540T>GCA367398404GCKc.*1208A>C (n.*1208A>C)
c.*330A>C (n.*330A>C)
n.436A>C
c.244A>C (p.Ile82Leu)
c.1213A>C (p.Ile405Leu)
c.1210A>C (p.Ile404Leu)
c.1273A>C (p.Ile425Leu)
n.222A>C
c.262A>C (p.Ile88Leu)
c.1207A>C (p.Ile403Leu)
c.1159A>C (p.Ile387Leu)
n.590A>C
c.199A>C (p.Ile67Leu)
c.70A>C (p.Ile24Leu)
7g.44145540_44145567delinsTGCGCATTACGTCCTCGCTGCGGCTCTCCA1703612863GCKc.*1181_*1208delinsGAGAGCCGCAGCGAGGACGTAATGCGCA (n.*1181_*1208delinsGAGAGCCGCAGCGAGGACGTAATGCGCA)
c.*303_*330delinsGAGAGCCGCAGCGAGGACGTAATGCGCA (n.*303_*330delinsGAGAGCCGCAGCGAGGACGTAATGCGCA)
n.409_436delinsGAGAGCCGCAGCGAGGACGTAATGCGCA
c.217_244delinsGAGAGCCGCAGCGAGGACGTAATGCGCA (p.Glu73=)
c.1186_1213delinsGAGAGCCGCAGCGAGGACGTAATGCGCA (p.Glu396=)
c.1183_1210delinsGAGAGCCGCAGCGAGGACGTAATGCGCA (p.Glu395=)
c.1246_1273delinsGAGAGCCGCAGCGAGGACGTAATGCGCA (p.Glu416=)
n.195_222delinsGAGAGCCGCAGCGAGGACGTAATGCGCA
c.235_262delinsGAGAGCCGCAGCGAGGACGTAATGCGCA (p.Glu79=)
c.1180_1207delinsGAGAGCCGCAGCGAGGACGTAATGCGCA (p.Glu394=)
c.1132_1159delinsGAGAGCCGCAGCGAGGACGTAATGCGCA (p.Glu378=)
n.563_590delinsGAGAGCCGCAGCGAGGACGTAATGCGCA
c.172_199delinsGAGAGCCGCAGCGAGGACGTAATGCGCA (p.Glu58=)
c.43_70delinsGAGAGCCGCAGCGAGGACGTAATGCGCA (p.Glu15=)
7g.44145541delCA2695202986GCKc.*1207del (n.*1207del)
c.*329del (n.*329del)
n.435del
c.243del (p.Ile82SerfsTer27)
c.1212del (p.Ile405SerfsTer27)
c.1209del (p.Ile404SerfsTer27)
c.1272del (p.Ile425SerfsTer27)
n.221del
c.261del (p.Ile88SerfsTer27)
c.1206del (p.Ile403SerfsTer27)
c.1158del (p.Ile387SerfsTer27)
n.589del
c.198del (p.Ile67SerfsTer27)
c.69del (p.Ile24SerfsTer27)
7g.44145541G>ACA454863149GCKc.*1207C>T (n.*1207C>T)
c.*329C>T (n.*329C>T)
n.435C>T
c.243C>T (p.Arg81=)
c.1212C>T (p.Arg404=)
c.1209C>T (p.Arg403=)
c.1272C>T (p.Arg424=)
n.221C>T
c.261C>T (p.Arg87=)
c.1206C>T (p.Arg402=)
c.1158C>T (p.Arg386=)
n.589C>T
c.198C>T (p.Arg66=)
c.69C>T (p.Arg23=)
 gnomAD v4
7g.44145541G>CCA454863150GCKc.*1207C>G (n.*1207C>G)
c.*329C>G (n.*329C>G)
n.435C>G
c.243C>G (p.Arg81=)
c.1212C>G (p.Arg404=)
c.1209C>G (p.Arg403=)
c.1272C>G (p.Arg424=)
n.221C>G
c.261C>G (p.Arg87=)
c.1206C>G (p.Arg402=)
c.1158C>G (p.Arg386=)
n.589C>G
c.198C>G (p.Arg66=)
c.69C>G (p.Arg23=)
7g.44145541G>TCA454863151GCKc.*1207C>A (n.*1207C>A)
c.*329C>A (n.*329C>A)
n.435C>A
c.243C>A (p.Arg81=)
c.1212C>A (p.Arg404=)
c.1209C>A (p.Arg403=)
c.1272C>A (p.Arg424=)
n.221C>A
c.261C>A (p.Arg87=)
c.1206C>A (p.Arg402=)
c.1158C>A (p.Arg386=)
n.589C>A
c.198C>A (p.Arg66=)
c.69C>A (p.Arg23=)
 gnomAD v4
7g.44145543_44145544delCA2695202987GCKc.*1206_*1207del (n.*1206_*1207del)
c.*328_*329del (n.*328_*329del)
n.434_435del
c.242_243del (p.Arg81HisfsTer?)
c.1211_1212del (p.Arg404HisfsTer?)
c.1208_1209del (p.Arg403HisfsTer?)
c.1271_1272del (p.Arg424HisfsTer?)
n.220_221del
c.260_261del (p.Arg87HisfsTer?)
c.1205_1206del (p.Arg402HisfsTer?)
c.1157_1158del (p.Arg386HisfsTer?)
n.588_589del
c.197_198del (p.Arg66HisfsTer?)
c.68_69del (p.Arg23HisfsTer?)
7g.44145547_44145573delCA574226172GCKc.*1181_*1207del (n.*1181_*1207del)
c.*303_*329del (n.*303_*329del)
n.409_435del
c.217_243del (p.Glu73_Arg81del)
c.1186_1212del (p.Glu396_Arg404del)
c.1183_1209del (p.Glu395_Arg403del)
c.1246_1272del (p.Glu416_Arg424del)
n.195_221del
c.235_261del (p.Glu79_Arg87del)
c.1180_1206del (p.Glu394_Arg402del)
c.1132_1158del (p.Glu378_Arg386del)
n.563_589del
c.172_198del (p.Glu58_Arg66del)
c.43_69del (p.Glu15_Arg23del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.44145542C>ACA157913358GCKc.*1206G>T (n.*1206G>T)
c.*328G>T (n.*328G>T)
n.434G>T
c.242G>T (p.Arg81Leu)
c.1211G>T (p.Arg404Leu)
c.1208G>T (p.Arg403Leu)
c.1271G>T (p.Arg424Leu)
n.220G>T
c.260G>T (p.Arg87Leu)
c.1205G>T (p.Arg402Leu)
c.1157G>T (p.Arg386Leu)
n.588G>T
c.197G>T (p.Arg66Leu)
c.68G>T (p.Arg23Leu)
 dbSNP
7g.44145542C=CA1703612864GCKc.*1206G= (n.*1206G=)
c.*328G= (n.*328G=)
n.434G=
c.242G= (p.Arg81=)
c.1211G= (p.Arg404=)
c.1208G= (p.Arg403=)
c.1271G= (p.Arg424=)
n.220G=
c.260G= (p.Arg87=)
c.1205G= (p.Arg402=)
c.1157G= (p.Arg386=)
n.588G=
c.197G= (p.Arg66=)
c.68G= (p.Arg23=)
7g.44145542C>GCA367398415GCKc.*1206G>C (n.*1206G>C)
c.*328G>C (n.*328G>C)
n.434G>C
c.242G>C (p.Arg81Pro)
c.1211G>C (p.Arg404Pro)
c.1208G>C (p.Arg403Pro)
c.1271G>C (p.Arg424Pro)
n.220G>C
c.260G>C (p.Arg87Pro)
c.1205G>C (p.Arg402Pro)
c.1157G>C (p.Arg386Pro)
n.588G>C
c.197G>C (p.Arg66Pro)
c.68G>C (p.Arg23Pro)
 gnomAD v4
7g.44145542C>TCA367398418GCKc.*1206G>A (n.*1206G>A)
c.*328G>A (n.*328G>A)
n.434G>A
c.242G>A (p.Arg81His)
c.1211G>A (p.Arg404His)
c.1208G>A (p.Arg403His)
c.1271G>A (p.Arg424His)
n.220G>A
c.260G>A (p.Arg87His)
c.1205G>A (p.Arg402His)
c.1157G>A (p.Arg386His)
n.588G>A
c.197G>A (p.Arg66His)
c.68G>A (p.Arg23His)
 dbSNP gnomAD v2 gnomAD v4
7g.44145543G>ACA367398420GCKc.*1205C>T (n.*1205C>T)
c.*327C>T (n.*327C>T)
n.433C>T
c.241C>T (p.Arg81Cys)
c.1210C>T (p.Arg404Cys)
c.1207C>T (p.Arg403Cys)
c.1270C>T (p.Arg424Cys)
n.219C>T
c.259C>T (p.Arg87Cys)
c.1204C>T (p.Arg402Cys)
c.1156C>T (p.Arg386Cys)
n.587C>T
c.196C>T (p.Arg66Cys)
c.67C>T (p.Arg23Cys)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
7g.44145543G>CCA213737GCKc.*1205C>G (n.*1205C>G)
c.*327C>G (n.*327C>G)
n.433C>G
c.241C>G (p.Arg81Gly)
c.1210C>G (p.Arg404Gly)
c.1207C>G (p.Arg403Gly)
c.1270C>G (p.Arg424Gly)
n.219C>G
c.259C>G (p.Arg87Gly)
c.1204C>G (p.Arg402Gly)
c.1156C>G (p.Arg386Gly)
n.587C>G
c.196C>G (p.Arg66Gly)
c.67C>G (p.Arg23Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.44145543G=CA1703612865GCKc.*1205C= (n.*1205C=)
c.*327C= (n.*327C=)
n.433C=
c.241C= (p.Arg81=)
c.1210C= (p.Arg404=)
c.1207C= (p.Arg403=)
c.1270C= (p.Arg424=)
n.219C=
c.259C= (p.Arg87=)
c.1204C= (p.Arg402=)
c.1156C= (p.Arg386=)
n.587C=
c.196C= (p.Arg66=)
c.67C= (p.Arg23=)
7g.44145543G>TCA157913370GCKc.*1205C>A (n.*1205C>A)
c.*327C>A (n.*327C>A)
n.433C>A
c.241C>A (p.Arg81Ser)
c.1210C>A (p.Arg404Ser)
c.1207C>A (p.Arg403Ser)
c.1270C>A (p.Arg424Ser)
n.219C>A
c.259C>A (p.Arg87Ser)
c.1204C>A (p.Arg402Ser)
c.1156C>A (p.Arg386Ser)
n.587C>A
c.196C>A (p.Arg66Ser)
c.67C>A (p.Arg23Ser)
 dbSNP gnomAD v2 gnomAD v4
7g.44145544C>ACA367398426GCKc.*1204G>T (n.*1204G>T)
c.*326G>T (n.*326G>T)
n.432G>T
c.240G>T (p.Met80Ile)
c.1209G>T (p.Met403Ile)
c.1206G>T (p.Met402Ile)
c.1269G>T (p.Met423Ile)
n.218G>T
c.258G>T (p.Met86Ile)
c.1203G>T (p.Met401Ile)
c.1155G>T (p.Met385Ile)
n.586G>T
c.195G>T (p.Met65Ile)
c.66G>T (p.Met22Ile)
7g.44145544C>GCA367398429GCKc.*1204G>C (n.*1204G>C)
c.*326G>C (n.*326G>C)
n.432G>C
c.240G>C (p.Met80Ile)
c.1209G>C (p.Met403Ile)
c.1206G>C (p.Met402Ile)
c.1269G>C (p.Met423Ile)
n.218G>C
c.258G>C (p.Met86Ile)
c.1203G>C (p.Met401Ile)
c.1155G>C (p.Met385Ile)
n.586G>C
c.195G>C (p.Met65Ile)
c.66G>C (p.Met22Ile)
7g.44145544C>TCA367398431GCKc.*1204G>A (n.*1204G>A)
c.*326G>A (n.*326G>A)
n.432G>A
c.240G>A (p.Met80Ile)
c.1209G>A (p.Met403Ile)
c.1206G>A (p.Met402Ile)
c.1269G>A (p.Met423Ile)
n.218G>A
c.258G>A (p.Met86Ile)
c.1203G>A (p.Met401Ile)
c.1155G>A (p.Met385Ile)
n.586G>A
c.195G>A (p.Met65Ile)
c.66G>A (p.Met22Ile)
 gnomAD v4
7g.44145545A>CCA367398432GCKc.*1203T>G (n.*1203T>G)
c.*325T>G (n.*325T>G)
n.431T>G
c.239T>G (p.Met80Arg)
c.1208T>G (p.Met403Arg)
c.1205T>G (p.Met402Arg)
c.1268T>G (p.Met423Arg)
n.217T>G
c.257T>G (p.Met86Arg)
c.1202T>G (p.Met401Arg)
c.1154T>G (p.Met385Arg)
n.585T>G
c.194T>G (p.Met65Arg)
c.65T>G (p.Met22Arg)
7g.44145545A>GCA367398435GCKc.*1203T>C (n.*1203T>C)
c.*325T>C (n.*325T>C)
n.431T>C
c.239T>C (p.Met80Thr)
c.1208T>C (p.Met403Thr)
c.1205T>C (p.Met402Thr)
c.1268T>C (p.Met423Thr)
n.217T>C
c.257T>C (p.Met86Thr)
c.1202T>C (p.Met401Thr)
c.1154T>C (p.Met385Thr)
n.585T>C
c.194T>C (p.Met65Thr)
c.65T>C (p.Met22Thr)
7g.44145545A>TCA367398436GCKc.*1203T>A (n.*1203T>A)
c.*325T>A (n.*325T>A)
n.431T>A
c.239T>A (p.Met80Lys)
c.1208T>A (p.Met403Lys)
c.1205T>A (p.Met402Lys)
c.1268T>A (p.Met423Lys)
n.217T>A
c.257T>A (p.Met86Lys)
c.1202T>A (p.Met401Lys)
c.1154T>A (p.Met385Lys)
n.585T>A
c.194T>A (p.Met65Lys)
c.65T>A (p.Met22Lys)
7g.44145546T>ACA367398439GCKc.*1202A>T (n.*1202A>T)
c.*324A>T (n.*324A>T)
n.430A>T
c.238A>T (p.Met80Leu)
c.1207A>T (p.Met403Leu)
c.1204A>T (p.Met402Leu)
c.1267A>T (p.Met423Leu)
n.216A>T
c.256A>T (p.Met86Leu)
c.1201A>T (p.Met401Leu)
c.1153A>T (p.Met385Leu)
n.584A>T
c.193A>T (p.Met65Leu)
c.64A>T (p.Met22Leu)
7g.44145546T>CCA367398442GCKc.*1202A>G (n.*1202A>G)
c.*324A>G (n.*324A>G)
n.430A>G
c.238A>G (p.Met80Val)
c.1207A>G (p.Met403Val)
c.1204A>G (p.Met402Val)
c.1267A>G (p.Met423Val)
n.216A>G
c.256A>G (p.Met86Val)
c.1201A>G (p.Met401Val)
c.1153A>G (p.Met385Val)
n.584A>G
c.193A>G (p.Met65Val)
c.64A>G (p.Met22Val)
7g.44145546T>GCA367398438GCKc.*1202A>C (n.*1202A>C)
c.*324A>C (n.*324A>C)
n.430A>C
c.238A>C (p.Met80Leu)
c.1207A>C (p.Met403Leu)
c.1204A>C (p.Met402Leu)
c.1267A>C (p.Met423Leu)
n.216A>C
c.256A>C (p.Met86Leu)
c.1201A>C (p.Met401Leu)
c.1153A>C (p.Met385Leu)
n.584A>C
c.193A>C (p.Met65Leu)
c.64A>C (p.Met22Leu)
7g.44145547T>ACA454863157GCKc.*1201A>T (n.*1201A>T)
c.*323A>T (n.*323A>T)
n.429A>T
c.237A>T (p.Val79=)
c.1206A>T (p.Val402=)
c.1203A>T (p.Val401=)
c.1266A>T (p.Val422=)
n.215A>T
c.255A>T (p.Val85=)
c.1200A>T (p.Val400=)
c.1152A>T (p.Val384=)
n.583A>T
c.192A>T (p.Val64=)
c.63A>T (p.Val21=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.44145547T>CCA454863158GCKc.*1201A>G (n.*1201A>G)
c.*323A>G (n.*323A>G)
n.429A>G
c.237A>G (p.Val79=)
c.1206A>G (p.Val402=)
c.1203A>G (p.Val401=)
c.1266A>G (p.Val422=)
n.215A>G
c.255A>G (p.Val85=)
c.1200A>G (p.Val400=)
c.1152A>G (p.Val384=)
n.583A>G
c.192A>G (p.Val64=)
c.63A>G (p.Val21=)
7g.44145547T>GCA454863159GCKc.*1201A>C (n.*1201A>C)
c.*323A>C (n.*323A>C)
n.429A>C
c.237A>C (p.Val79=)
c.1206A>C (p.Val402=)
c.1203A>C (p.Val401=)
c.1266A>C (p.Val422=)
n.215A>C
c.255A>C (p.Val85=)
c.1200A>C (p.Val400=)
c.1152A>C (p.Val384=)
n.583A>C
c.192A>C (p.Val64=)
c.63A>C (p.Val21=)
7g.44145547T=CA1703612866GCKc.*1201A= (n.*1201A=)
c.*323A= (n.*323A=)
n.429A=
c.237A= (p.Val79=)
c.1206A= (p.Val402=)
c.1203A= (p.Val401=)
c.1266A= (p.Val422=)
n.215A=
c.255A= (p.Val85=)
c.1200A= (p.Val400=)
c.1152A= (p.Val384=)
n.583A=
c.192A= (p.Val64=)
c.63A= (p.Val21=)
7g.44145548A>CCA367398445GCKc.*1200T>G (n.*1200T>G)
c.*322T>G (n.*322T>G)
n.428T>G
c.236T>G (p.Val79Gly)
c.1205T>G (p.Val402Gly)
c.1202T>G (p.Val401Gly)
c.1265T>G (p.Val422Gly)
n.214T>G
c.254T>G (p.Val85Gly)
c.1199T>G (p.Val400Gly)
c.1151T>G (p.Val384Gly)
n.582T>G
c.191T>G (p.Val64Gly)
c.62T>G (p.Val21Gly)
7g.44145548A>GCA367398446GCKc.*1200T>C (n.*1200T>C)
c.*322T>C (n.*322T>C)
n.428T>C
c.236T>C (p.Val79Ala)
c.1205T>C (p.Val402Ala)
c.1202T>C (p.Val401Ala)
c.1265T>C (p.Val422Ala)
n.214T>C
c.254T>C (p.Val85Ala)
c.1199T>C (p.Val400Ala)
c.1151T>C (p.Val384Ala)
n.582T>C
c.191T>C (p.Val64Ala)
c.62T>C (p.Val21Ala)
7g.44145548A>TCA367398448GCKc.*1200T>A (n.*1200T>A)
c.*322T>A (n.*322T>A)
n.428T>A
c.236T>A (p.Val79Glu)
c.1205T>A (p.Val402Glu)
c.1202T>A (p.Val401Glu)
c.1265T>A (p.Val422Glu)
n.214T>A
c.254T>A (p.Val85Glu)
c.1199T>A (p.Val400Glu)
c.1151T>A (p.Val384Glu)
n.582T>A
c.191T>A (p.Val64Glu)
c.62T>A (p.Val21Glu)
7g.44145549delCA2695202989GCKc.*1199del (n.*1199del)
c.*321del (n.*321del)
n.427del
c.235del (p.Val79Ter)
c.1204del (p.Val402Ter)
c.1201del (p.Val401Ter)
c.1264del (p.Val422Ter)
n.213del
c.253del (p.Val85Ter)
c.1198del (p.Val400Ter)
c.1150del (p.Val384Ter)
n.581del
c.190del (p.Val64Ter)
c.61del (p.Val21Ter)
7g.44145549C>ACA367398450GCKc.*1199G>T (n.*1199G>T)
c.*321G>T (n.*321G>T)
n.427G>T
c.235G>T (p.Val79Leu)
c.1204G>T (p.Val402Leu)
c.1201G>T (p.Val401Leu)
c.1264G>T (p.Val422Leu)
n.213G>T
c.253G>T (p.Val85Leu)
c.1198G>T (p.Val400Leu)
c.1150G>T (p.Val384Leu)
n.581G>T
c.190G>T (p.Val64Leu)
c.61G>T (p.Val21Leu)
7g.44145549C=CA1703612867GCKc.*1199G= (n.*1199G=)
c.*321G= (n.*321G=)
n.427G=
c.235G= (p.Val79=)
c.1204G= (p.Val402=)
c.1201G= (p.Val401=)
c.1264G= (p.Val422=)
n.213G=
c.253G= (p.Val85=)
c.1198G= (p.Val400=)
c.1150G= (p.Val384=)
n.581G=
c.190G= (p.Val64=)
c.61G= (p.Val21=)
7g.44145549C>GCA367398453GCKc.*1199G>C (n.*1199G>C)
c.*321G>C (n.*321G>C)
n.427G>C
c.235G>C (p.Val79Leu)
c.1204G>C (p.Val402Leu)
c.1201G>C (p.Val401Leu)
c.1264G>C (p.Val422Leu)
n.213G>C
c.253G>C (p.Val85Leu)
c.1198G>C (p.Val400Leu)
c.1150G>C (p.Val384Leu)
n.581G>C
c.190G>C (p.Val64Leu)
c.61G>C (p.Val21Leu)
 dbSNP gnomAD v2
7g.44145549C>TCA4239414GCKc.*1199G>A (n.*1199G>A)
c.*321G>A (n.*321G>A)
n.427G>A
c.235G>A (p.Val79Ile)
c.1204G>A (p.Val402Ile)
c.1201G>A (p.Val401Ile)
c.1264G>A (p.Val422Ile)
n.213G>A
c.253G>A (p.Val85Ile)
c.1198G>A (p.Val400Ile)
c.1150G>A (p.Val384Ile)
n.581G>A
c.190G>A (p.Val64Ile)
c.61G>A (p.Val21Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.44145550G>ACA454863160GCKc.*1198C>T (n.*1198C>T)
c.*320C>T (n.*320C>T)
n.426C>T
c.234C>T (p.Asp78=)
c.1203C>T (p.Asp401=)
c.1200C>T (p.Asp400=)
c.1263C>T (p.Asp421=)
n.212C>T
c.252C>T (p.Asp84=)
c.1197C>T (p.Asp399=)
c.1149C>T (p.Asp383=)
n.580C>T
c.189C>T (p.Asp63=)
c.60C>T (p.Asp20=)
7g.44145550G>CCA4239415GCKc.*1198C>G (n.*1198C>G)
c.*320C>G (n.*320C>G)
n.426C>G
c.234C>G (p.Asp78Glu)
c.1203C>G (p.Asp401Glu)
c.1200C>G (p.Asp400Glu)
c.1263C>G (p.Asp421Glu)
n.212C>G
c.252C>G (p.Asp84Glu)
c.1197C>G (p.Asp399Glu)
c.1149C>G (p.Asp383Glu)
n.580C>G
c.189C>G (p.Asp63Glu)
c.60C>G (p.Asp20Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.44145550G=CA1703612868GCKc.*1198C= (n.*1198C=)
c.*320C= (n.*320C=)
n.426C=
c.234C= (p.Asp78=)
c.1203C= (p.Asp401=)
c.1200C= (p.Asp400=)
c.1263C= (p.Asp421=)
n.212C=
c.252C= (p.Asp84=)
c.1197C= (p.Asp399=)
c.1149C= (p.Asp383=)
n.580C=
c.189C= (p.Asp63=)
c.60C= (p.Asp20=)
7g.44145550G>TCA367398459GCKc.*1198C>A (n.*1198C>A)
c.*320C>A (n.*320C>A)
n.426C>A
c.234C>A (p.Asp78Glu)
c.1203C>A (p.Asp401Glu)
c.1200C>A (p.Asp400Glu)
c.1263C>A (p.Asp421Glu)
n.212C>A
c.252C>A (p.Asp84Glu)
c.1197C>A (p.Asp399Glu)
c.1149C>A (p.Asp383Glu)
n.580C>A
c.189C>A (p.Asp63Glu)
c.60C>A (p.Asp20Glu)
 gnomAD v4
7g.44145551T>ACA367398463GCKc.*1197A>T (n.*1197A>T)
c.*319A>T (n.*319A>T)
n.425A>T
c.233A>T (p.Asp78Val)
c.1202A>T (p.Asp401Val)
c.1199A>T (p.Asp400Val)
c.1262A>T (p.Asp421Val)
n.211A>T
c.251A>T (p.Asp84Val)
c.1196A>T (p.Asp399Val)
c.1148A>T (p.Asp383Val)
n.579A>T
c.188A>T (p.Asp63Val)
c.59A>T (p.Asp20Val)
7g.44145551T>CCA4239416GCKc.*1197A>G (n.*1197A>G)
c.*319A>G (n.*319A>G)
n.425A>G
c.233A>G (p.Asp78Gly)
c.1202A>G (p.Asp401Gly)
c.1199A>G (p.Asp400Gly)
c.1262A>G (p.Asp421Gly)
n.211A>G
c.251A>G (p.Asp84Gly)
c.1196A>G (p.Asp399Gly)
c.1148A>G (p.Asp383Gly)
n.579A>G
c.188A>G (p.Asp63Gly)
c.59A>G (p.Asp20Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.44145551T>GCA367398469GCKc.*1197A>C (n.*1197A>C)
c.*319A>C (n.*319A>C)
n.425A>C
c.233A>C (p.Asp78Ala)
c.1202A>C (p.Asp401Ala)
c.1199A>C (p.Asp400Ala)
c.1262A>C (p.Asp421Ala)
n.211A>C
c.251A>C (p.Asp84Ala)
c.1196A>C (p.Asp399Ala)
c.1148A>C (p.Asp383Ala)
n.579A>C
c.188A>C (p.Asp63Ala)
c.59A>C (p.Asp20Ala)
7g.44145551T=CA1703612869GCKc.*1197A= (n.*1197A=)
c.*319A= (n.*319A=)
n.425A=
c.233A= (p.Asp78=)
c.1202A= (p.Asp401=)
c.1199A= (p.Asp400=)
c.1262A= (p.Asp421=)
n.211A=
c.251A= (p.Asp84=)
c.1196A= (p.Asp399=)
c.1148A= (p.Asp383=)
n.579A=
c.188A= (p.Asp63=)
c.59A= (p.Asp20=)
7g.44145552C>ACA367398472GCKc.*1196G>T (n.*1196G>T)
c.*318G>T (n.*318G>T)
n.424G>T
c.232G>T (p.Asp78Tyr)
c.1201G>T (p.Asp401Tyr)
c.1198G>T (p.Asp400Tyr)
c.1261G>T (p.Asp421Tyr)
n.210G>T
c.250G>T (p.Asp84Tyr)
c.1195G>T (p.Asp399Tyr)
c.1147G>T (p.Asp383Tyr)
n.578G>T
c.187G>T (p.Asp63Tyr)
c.58G>T (p.Asp20Tyr)
7g.44145552C=CA1703612870GCKc.*1196G= (n.*1196G=)
c.*318G= (n.*318G=)
n.424G=
c.232G= (p.Asp78=)
c.1201G= (p.Asp401=)
c.1198G= (p.Asp400=)
c.1261G= (p.Asp421=)
n.210G=
c.250G= (p.Asp84=)
c.1195G= (p.Asp399=)
c.1147G= (p.Asp383=)
n.578G=
c.187G= (p.Asp63=)
c.58G= (p.Asp20=)
7g.44145552C>GCA367398474GCKc.*1196G>C (n.*1196G>C)
c.*318G>C (n.*318G>C)
n.424G>C
c.232G>C (p.Asp78His)
c.1201G>C (p.Asp401His)
c.1198G>C (p.Asp400His)
c.1261G>C (p.Asp421His)
n.210G>C
c.250G>C (p.Asp84His)
c.1195G>C (p.Asp399His)
c.1147G>C (p.Asp383His)
n.578G>C
c.187G>C (p.Asp63His)
c.58G>C (p.Asp20His)
7g.44145552C>TCA157913408GCKc.*1196G>A (n.*1196G>A)
c.*318G>A (n.*318G>A)
n.424G>A
c.232G>A (p.Asp78Asn)
c.1201G>A (p.Asp401Asn)
c.1198G>A (p.Asp400Asn)
c.1261G>A (p.Asp421Asn)
n.210G>A
c.250G>A (p.Asp84Asn)
c.1195G>A (p.Asp399Asn)
c.1147G>A (p.Asp383Asn)
n.578G>A
c.187G>A (p.Asp63Asn)
c.58G>A (p.Asp20Asn)
 dbSNP gnomAD v4
7g.44145553delCA2682581306GCKc.*1196del (n.*1196del)
c.*318del (n.*318del)
n.424del
c.232del (p.Asp78ThrfsTer2)
c.1201del (p.Asp401ThrfsTer2)
c.1198del (p.Asp400ThrfsTer2)
c.1261del (p.Asp421ThrfsTer2)
n.210del
c.250del (p.Asp84ThrfsTer2)
c.1195del (p.Asp399ThrfsTer2)
c.1147del (p.Asp383ThrfsTer2)
n.578del
c.187del (p.Asp63ThrfsTer2)
c.58del (p.Asp20ThrfsTer2)
 gnomAD v4
7g.44145553C>ACA367398483GCKc.*1195G>T (n.*1195G>T)
c.*317G>T (n.*317G>T)
n.423G>T
c.231G>T (p.Glu77Asp)
c.1200G>T (p.Glu400Asp)
c.1197G>T (p.Glu399Asp)
c.1260G>T (p.Glu420Asp)
n.209G>T
c.249G>T (p.Glu83Asp)
c.1194G>T (p.Glu398Asp)
c.1146G>T (p.Glu382Asp)
n.577G>T
c.186G>T (p.Glu62Asp)
c.57G>T (p.Glu19Asp)
 gnomAD v4
7g.44145553C>GCA367398480GCKc.*1195G>C (n.*1195G>C)
c.*317G>C (n.*317G>C)
n.423G>C
c.231G>C (p.Glu77Asp)
c.1200G>C (p.Glu400Asp)
c.1197G>C (p.Glu399Asp)
c.1260G>C (p.Glu420Asp)
n.209G>C
c.249G>C (p.Glu83Asp)
c.1194G>C (p.Glu398Asp)
c.1146G>C (p.Glu382Asp)
n.577G>C
c.186G>C (p.Glu62Asp)
c.57G>C (p.Glu19Asp)
7g.44145553C>TCA454863164GCKc.*1195G>A (n.*1195G>A)
c.*317G>A (n.*317G>A)
n.423G>A
c.231G>A (p.Glu77=)
c.1200G>A (p.Glu400=)
c.1197G>A (p.Glu399=)
c.1260G>A (p.Glu420=)
n.209G>A
c.249G>A (p.Glu83=)
c.1194G>A (p.Glu398=)
c.1146G>A (p.Glu382=)
n.577G>A
c.186G>A (p.Glu62=)
c.57G>A (p.Glu19=)
7g.44145554T>ACA367398486GCKc.*1194A>T (n.*1194A>T)
c.*316A>T (n.*316A>T)
n.422A>T
c.230A>T (p.Glu77Val)
c.1199A>T (p.Glu400Val)
c.1196A>T (p.Glu399Val)
c.1259A>T (p.Glu420Val)
n.208A>T
c.248A>T (p.Glu83Val)
c.1193A>T (p.Glu398Val)
c.1145A>T (p.Glu382Val)
n.576A>T
c.185A>T (p.Glu62Val)
c.56A>T (p.Glu19Val)
7g.44145554T>CCA367398489GCKc.*1194A>G (n.*1194A>G)
c.*316A>G (n.*316A>G)
n.422A>G
c.230A>G (p.Glu77Gly)
c.1199A>G (p.Glu400Gly)
c.1196A>G (p.Glu399Gly)
c.1259A>G (p.Glu420Gly)
n.208A>G
c.248A>G (p.Glu83Gly)
c.1193A>G (p.Glu398Gly)
c.1145A>G (p.Glu382Gly)
n.576A>G
c.185A>G (p.Glu62Gly)
c.56A>G (p.Glu19Gly)
 gnomAD v4
7g.44145554T>GCA367398487GCKc.*1194A>C (n.*1194A>C)
c.*316A>C (n.*316A>C)
n.422A>C
c.230A>C (p.Glu77Ala)
c.1199A>C (p.Glu400Ala)
c.1196A>C (p.Glu399Ala)
c.1259A>C (p.Glu420Ala)
n.208A>C
c.248A>C (p.Glu83Ala)
c.1193A>C (p.Glu398Ala)
c.1145A>C (p.Glu382Ala)
n.576A>C
c.185A>C (p.Glu62Ala)
c.56A>C (p.Glu19Ala)
7g.44145555C>ACA367398495GCKc.*1193G>T (n.*1193G>T)
c.*315G>T (n.*315G>T)
n.421G>T
c.229G>T (p.Glu77Ter)
c.1198G>T (p.Glu400Ter)
c.1195G>T (p.Glu399Ter)
c.1258G>T (p.Glu420Ter)
n.207G>T
c.247G>T (p.Glu83Ter)
c.1192G>T (p.Glu398Ter)
c.1144G>T (p.Glu382Ter)
n.575G>T
c.184G>T (p.Glu62Ter)
c.55G>T (p.Glu19Ter)
 ClinVar gnomAD v4
7g.44145555C=CA1703612871GCKc.*1193G= (n.*1193G=)
c.*315G= (n.*315G=)
n.421G=
c.229G= (p.Glu77=)
c.1198G= (p.Glu400=)
c.1195G= (p.Glu399=)
c.1258G= (p.Glu420=)
n.207G=
c.247G= (p.Glu83=)
c.1192G= (p.Glu398=)
c.1144G= (p.Glu382=)
n.575G=
c.184G= (p.Glu62=)
c.55G= (p.Glu19=)
7g.44145555C>GCA367398498GCKc.*1193G>C (n.*1193G>C)
c.*315G>C (n.*315G>C)
n.421G>C
c.229G>C (p.Glu77Gln)
c.1198G>C (p.Glu400Gln)
c.1195G>C (p.Glu399Gln)
c.1258G>C (p.Glu420Gln)
n.207G>C
c.247G>C (p.Glu83Gln)
c.1192G>C (p.Glu398Gln)
c.1144G>C (p.Glu382Gln)
n.575G>C
c.184G>C (p.Glu62Gln)
c.55G>C (p.Glu19Gln)
7g.44145555C>TCA4239417GCKc.*1193G>A (n.*1193G>A)
c.*315G>A (n.*315G>A)
n.421G>A
c.229G>A (p.Glu77Lys)
c.1198G>A (p.Glu400Lys)
c.1195G>A (p.Glu399Lys)
c.1258G>A (p.Glu420Lys)
n.207G>A
c.247G>A (p.Glu83Lys)
c.1192G>A (p.Glu398Lys)
c.1144G>A (p.Glu382Lys)
n.575G>A
c.184G>A (p.Glu62Lys)
c.55G>A (p.Glu19Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
7g.44145558_44145571delCA2695202991GCKc.*1180_*1193del (n.*1180_*1193del)
c.*302_*315del (n.*302_*315del)
n.408_421del
c.216_229del (p.Glu73GlyfsTer?)
c.1185_1198del (p.Glu396GlyfsTer?)
c.1182_1195del (p.Glu395GlyfsTer?)
c.1245_1258del (p.Glu416GlyfsTer?)
n.194_207del
c.234_247del (p.Glu79GlyfsTer?)
c.1179_1192del (p.Glu394GlyfsTer?)
c.1131_1144del (p.Glu378GlyfsTer?)
n.562_575del
c.171_184del (p.Glu58GlyfsTer?)
c.42_55del (p.Glu15GlyfsTer?)
7g.44145556G>ACA454863166GCKc.*1192C>T (n.*1192C>T)
c.*314C>T (n.*314C>T)
n.420C>T
c.228C>T (p.Ser76=)
c.1197C>T (p.Ser399=)
c.1194C>T (p.Ser398=)
c.1257C>T (p.Ser419=)
n.206C>T
c.246C>T (p.Ser82=)
c.1191C>T (p.Ser397=)
c.1143C>T (p.Ser381=)
n.574C>T
c.183C>T (p.Ser61=)
c.54C>T (p.Ser18=)
7g.44145556G>CCA367398508GCKc.*1192C>G (n.*1192C>G)
c.*314C>G (n.*314C>G)
n.420C>G
c.228C>G (p.Ser76Arg)
c.1197C>G (p.Ser399Arg)
c.1194C>G (p.Ser398Arg)
c.1257C>G (p.Ser419Arg)
n.206C>G
c.246C>G (p.Ser82Arg)
c.1191C>G (p.Ser397Arg)
c.1143C>G (p.Ser381Arg)
n.574C>G
c.183C>G (p.Ser61Arg)
c.54C>G (p.Ser18Arg)
7g.44145556G>TCA367398510GCKc.*1192C>A (n.*1192C>A)
c.*314C>A (n.*314C>A)
n.420C>A
c.228C>A (p.Ser76Arg)
c.1197C>A (p.Ser399Arg)
c.1194C>A (p.Ser398Arg)
c.1257C>A (p.Ser419Arg)
n.206C>A
c.246C>A (p.Ser82Arg)
c.1191C>A (p.Ser397Arg)
c.1143C>A (p.Ser381Arg)
n.574C>A
c.183C>A (p.Ser61Arg)
c.54C>A (p.Ser18Arg)
 gnomAD v4
7g.44145557C>ACA367398519GCKc.*1191G>T (n.*1191G>T)
c.*313G>T (n.*313G>T)
n.419G>T
c.227G>T (p.Ser76Ile)
c.1196G>T (p.Ser399Ile)
c.1193G>T (p.Ser398Ile)
c.1256G>T (p.Ser419Ile)
n.205G>T
c.245G>T (p.Ser82Ile)
c.1190G>T (p.Ser397Ile)
c.1142G>T (p.Ser381Ile)
n.573G>T
c.182G>T (p.Ser61Ile)
c.53G>T (p.Ser18Ile)
 gnomAD v4
7g.44145557C=CA1703612872GCKc.*1191G= (n.*1191G=)
c.*313G= (n.*313G=)
n.419G=
c.227G= (p.Ser76=)
c.1196G= (p.Ser399=)
c.1193G= (p.Ser398=)
c.1256G= (p.Ser419=)
n.205G=
c.245G= (p.Ser82=)
c.1190G= (p.Ser397=)
c.1142G= (p.Ser381=)
n.573G=
c.182G= (p.Ser61=)
c.53G= (p.Ser18=)
7g.44145557C>GCA367398516GCKc.*1191G>C (n.*1191G>C)
c.*313G>C (n.*313G>C)
n.419G>C
c.227G>C (p.Ser76Thr)
c.1196G>C (p.Ser399Thr)
c.1193G>C (p.Ser398Thr)
c.1256G>C (p.Ser419Thr)
n.205G>C
c.245G>C (p.Ser82Thr)
c.1190G>C (p.Ser397Thr)
c.1142G>C (p.Ser381Thr)
n.573G>C
c.182G>C (p.Ser61Thr)
c.53G>C (p.Ser18Thr)
7g.44145557C>TCA367398513GCKc.*1191G>A (n.*1191G>A)
c.*313G>A (n.*313G>A)
n.419G>A
c.227G>A (p.Ser76Asn)
c.1196G>A (p.Ser399Asn)
c.1193G>A (p.Ser398Asn)
c.1256G>A (p.Ser419Asn)
n.205G>A
c.245G>A (p.Ser82Asn)
c.1190G>A (p.Ser397Asn)
c.1142G>A (p.Ser381Asn)
n.573G>A
c.182G>A (p.Ser61Asn)
c.53G>A (p.Ser18Asn)
 dbSNP gnomAD v2
7g.44145559_44145566delCA2695202992GCKc.*1184_*1191del (n.*1184_*1191del)
c.*306_*313del (n.*306_*313del)
n.412_419del
c.220_227del (p.Ser74ArgfsTer?)
c.1189_1196del (p.Ser397ArgfsTer?)
c.1186_1193del (p.Ser396ArgfsTer?)
c.1249_1256del (p.Ser417ArgfsTer?)
n.198_205del
c.238_245del (p.Ser80ArgfsTer?)
c.1183_1190del (p.Ser395ArgfsTer?)
c.1135_1142del (p.Ser379ArgfsTer?)
n.566_573del
c.175_182del (p.Ser59ArgfsTer?)
c.46_53del (p.Ser16ArgfsTer?)
7g.44145558T>ACA367398522GCKc.*1190A>T (n.*1190A>T)
c.*312A>T (n.*312A>T)
n.418A>T
c.226A>T (p.Ser76Cys)
c.1195A>T (p.Ser399Cys)
c.1192A>T (p.Ser398Cys)
c.1255A>T (p.Ser419Cys)
n.204A>T
c.244A>T (p.Ser82Cys)
c.1189A>T (p.Ser397Cys)
c.1141A>T (p.Ser381Cys)
n.572A>T
c.181A>T (p.Ser61Cys)
c.52A>T (p.Ser18Cys)
7g.44145558T>CCA367398524GCKc.*1190A>G (n.*1190A>G)
c.*312A>G (n.*312A>G)
n.418A>G
c.226A>G (p.Ser76Gly)
c.1195A>G (p.Ser399Gly)
c.1192A>G (p.Ser398Gly)
c.1255A>G (p.Ser419Gly)
n.204A>G
c.244A>G (p.Ser82Gly)
c.1189A>G (p.Ser397Gly)
c.1141A>G (p.Ser381Gly)
n.572A>G
c.181A>G (p.Ser61Gly)
c.52A>G (p.Ser18Gly)
 gnomAD v4
7g.44145558T>GCA367398527GCKc.*1190A>C (n.*1190A>C)
c.*312A>C (n.*312A>C)
n.418A>C
c.226A>C (p.Ser76Arg)
c.1195A>C (p.Ser399Arg)
c.1192A>C (p.Ser398Arg)
c.1255A>C (p.Ser419Arg)
n.204A>C
c.244A>C (p.Ser82Arg)
c.1189A>C (p.Ser397Arg)
c.1141A>C (p.Ser381Arg)
n.572A>C
c.181A>C (p.Ser61Arg)
c.52A>C (p.Ser18Arg)
7g.44145558_44145568delCA2695202993GCKc.*1180_*1190del (n.*1180_*1190del)
c.*302_*312del (n.*302_*312del)
n.408_418del
c.216_226del (p.Glu73ArgfsTer?)
c.1185_1195del (p.Glu396ArgfsTer?)
c.1182_1192del (p.Glu395ArgfsTer?)
c.1245_1255del (p.Glu416ArgfsTer?)
n.194_204del
c.234_244del (p.Glu79ArgfsTer?)
c.1179_1189del (p.Glu394ArgfsTer?)
c.1131_1141del (p.Glu378ArgfsTer?)
n.562_572del
c.171_181del (p.Glu58ArgfsTer?)
c.42_52del (p.Glu15ArgfsTer?)
7g.44145559G>ACA454863170GCKc.*1189C>T (n.*1189C>T)
c.*311C>T (n.*311C>T)
n.417C>T
c.225C>T (p.Arg75=)
c.1194C>T (p.Arg398=)
c.1191C>T (p.Arg397=)
c.1254C>T (p.Arg418=)
n.203C>T
c.243C>T (p.Arg81=)
c.1188C>T (p.Arg396=)
c.1140C>T (p.Arg380=)
n.571C>T
c.180C>T (p.Arg60=)
c.51C>T (p.Arg17=)
 gnomAD v4
7g.44145559G>CCA454863171GCKc.*1189C>G (n.*1189C>G)
c.*311C>G (n.*311C>G)
n.417C>G
c.225C>G (p.Arg75=)
c.1194C>G (p.Arg398=)
c.1191C>G (p.Arg397=)
c.1254C>G (p.Arg418=)
n.203C>G
c.243C>G (p.Arg81=)
c.1188C>G (p.Arg396=)
c.1140C>G (p.Arg380=)
n.571C>G
c.180C>G (p.Arg60=)
c.51C>G (p.Arg17=)
7g.44145559G>TCA454863172GCKc.*1189C>A (n.*1189C>A)
c.*311C>A (n.*311C>A)
n.417C>A
c.225C>A (p.Arg75=)
c.1194C>A (p.Arg398=)
c.1191C>A (p.Arg397=)
c.1254C>A (p.Arg418=)
n.203C>A
c.243C>A (p.Arg81=)
c.1188C>A (p.Arg396=)
c.1140C>A (p.Arg380=)
n.571C>A
c.180C>A (p.Arg60=)
c.51C>A (p.Arg17=)
 gnomAD v4
7g.44145560C>ACA341587GCKc.*1188G>T (n.*1188G>T)
c.*310G>T (n.*310G>T)
n.416G>T
c.224G>T (p.Arg75Leu)
c.1193G>T (p.Arg398Leu)
c.1190G>T (p.Arg397Leu)
c.1253G>T (p.Arg418Leu)
n.202G>T
c.242G>T (p.Arg81Leu)
c.1187G>T (p.Arg396Leu)
c.1139G>T (p.Arg380Leu)
n.570G>T
c.179G>T (p.Arg60Leu)
c.50G>T (p.Arg17Leu)
 ClinVar dbSNP gnomAD v4
7g.44145560C=CA1703612873GCKc.*1188G= (n.*1188G=)
c.*310G= (n.*310G=)
n.416G=
c.224G= (p.Arg75=)
c.1193G= (p.Arg398=)
c.1190G= (p.Arg397=)
c.1253G= (p.Arg418=)
n.202G=
c.242G= (p.Arg81=)
c.1187G= (p.Arg396=)
c.1139G= (p.Arg380=)
n.570G=
c.179G= (p.Arg60=)
c.50G= (p.Arg17=)
7g.44145560C>GCA367398531GCKc.*1188G>C (n.*1188G>C)
c.*310G>C (n.*310G>C)
n.416G>C
c.224G>C (p.Arg75Pro)
c.1193G>C (p.Arg398Pro)
c.1190G>C (p.Arg397Pro)
c.1253G>C (p.Arg418Pro)
n.202G>C
c.242G>C (p.Arg81Pro)
c.1187G>C (p.Arg396Pro)
c.1139G>C (p.Arg380Pro)
n.570G>C
c.179G>C (p.Arg60Pro)
c.50G>C (p.Arg17Pro)
7g.44145560C>TCA367398533GCKc.*1188G>A (n.*1188G>A)
c.*310G>A (n.*310G>A)
n.416G>A
c.224G>A (p.Arg75His)
c.1193G>A (p.Arg398His)
c.1190G>A (p.Arg397His)
c.1253G>A (p.Arg418His)
n.202G>A
c.242G>A (p.Arg81His)
c.1187G>A (p.Arg396His)
c.1139G>A (p.Arg380His)
n.570G>A
c.179G>A (p.Arg60His)
c.50G>A (p.Arg17His)
 ClinVar dbSNP gnomAD v4
7g.44145561G>ACA4239418GCKc.*1187C>T (n.*1187C>T)
c.*309C>T (n.*309C>T)
n.415C>T
c.223C>T (p.Arg75Cys)
c.1192C>T (p.Arg398Cys)
c.1189C>T (p.Arg397Cys)
c.1252C>T (p.Arg418Cys)
n.201C>T
c.241C>T (p.Arg81Cys)
c.1186C>T (p.Arg396Cys)
c.1138C>T (p.Arg380Cys)
n.569C>T
c.178C>T (p.Arg60Cys)
c.49C>T (p.Arg17Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.44145561G>CCA367398536GCKc.*1187C>G (n.*1187C>G)
c.*309C>G (n.*309C>G)
n.415C>G
c.223C>G (p.Arg75Gly)
c.1192C>G (p.Arg398Gly)
c.1189C>G (p.Arg397Gly)
c.1252C>G (p.Arg418Gly)
n.201C>G
c.241C>G (p.Arg81Gly)
c.1186C>G (p.Arg396Gly)
c.1138C>G (p.Arg380Gly)
n.569C>G
c.178C>G (p.Arg60Gly)
c.49C>G (p.Arg17Gly)
 ClinVar
7g.44145561G=CA1703612874GCKc.*1187C= (n.*1187C=)
c.*309C= (n.*309C=)
n.415C=
c.223C= (p.Arg75=)
c.1192C= (p.Arg398=)
c.1189C= (p.Arg397=)
c.1252C= (p.Arg418=)
n.201C=
c.241C= (p.Arg81=)
c.1186C= (p.Arg396=)
c.1138C= (p.Arg380=)
n.569C=
c.178C= (p.Arg60=)
c.49C= (p.Arg17=)
7g.44145561G>TCA367398538GCKc.*1187C>A (n.*1187C>A)
c.*309C>A (n.*309C>A)
n.415C>A
c.223C>A (p.Arg75Ser)
c.1192C>A (p.Arg398Ser)
c.1189C>A (p.Arg397Ser)
c.1252C>A (p.Arg418Ser)
n.201C>A
c.241C>A (p.Arg81Ser)
c.1186C>A (p.Arg396Ser)
c.1138C>A (p.Arg380Ser)
n.569C>A
c.178C>A (p.Arg60Ser)
c.49C>A (p.Arg17Ser)
7g.44145562G>ACA454863176GCKc.*1186C>T (n.*1186C>T)
c.*308C>T (n.*308C>T)
n.414C>T
c.222C>T (p.Ser74=)
c.1191C>T (p.Ser397=)
c.1188C>T (p.Ser396=)
c.1251C>T (p.Ser417=)
n.200C>T
c.240C>T (p.Ser80=)
c.1185C>T (p.Ser395=)
c.1137C>T (p.Ser379=)
n.568C>T
c.177C>T (p.Ser59=)
c.48C>T (p.Ser16=)
 gnomAD v4
7g.44145562G>CCA367398542GCKc.*1186C>G (n.*1186C>G)
c.*308C>G (n.*308C>G)
n.414C>G
c.222C>G (p.Ser74Arg)
c.1191C>G (p.Ser397Arg)
c.1188C>G (p.Ser396Arg)
c.1251C>G (p.Ser417Arg)
n.200C>G
c.240C>G (p.Ser80Arg)
c.1185C>G (p.Ser395Arg)
c.1137C>G (p.Ser379Arg)
n.568C>G
c.177C>G (p.Ser59Arg)
c.48C>G (p.Ser16Arg)
7g.44145562G>TCA367398545GCKc.*1186C>A (n.*1186C>A)
c.*308C>A (n.*308C>A)
n.414C>A
c.222C>A (p.Ser74Arg)
c.1191C>A (p.Ser397Arg)
c.1188C>A (p.Ser396Arg)
c.1251C>A (p.Ser417Arg)
n.200C>A
c.240C>A (p.Ser80Arg)
c.1185C>A (p.Ser395Arg)
c.1137C>A (p.Ser379Arg)
n.568C>A
c.177C>A (p.Ser59Arg)
c.48C>A (p.Ser16Arg)
 gnomAD v4
7g.44145564_44145571delCA2695202997GCKc.*1179_*1186del (n.*1179_*1186del)
c.*301_*308del (n.*301_*308del)
n.407_414del
c.215_222del (p.Arg72ProfsTer?)
c.1184_1191del (p.Arg395ProfsTer?)
c.1181_1188del (p.Arg394ProfsTer?)
c.1244_1251del (p.Arg415ProfsTer?)
n.193_200del
c.233_240del (p.Arg78ProfsTer?)
c.1178_1185del (p.Arg393ProfsTer?)
c.1130_1137del (p.Arg377ProfsTer?)
n.561_568del
c.170_177del (p.Arg57ProfsTer?)
c.41_48del (p.Arg14ProfsTer?)
7g.44145563C>ACA367398547GCKc.*1185G>T (n.*1185G>T)
c.*307G>T (n.*307G>T)
n.413G>T
c.221G>T (p.Ser74Ile)
c.1190G>T (p.Ser397Ile)
c.1187G>T (p.Ser396Ile)
c.1250G>T (p.Ser417Ile)
n.199G>T
c.239G>T (p.Ser80Ile)
c.1184G>T (p.Ser395Ile)
c.1136G>T (p.Ser379Ile)
n.567G>T
c.176G>T (p.Ser59Ile)
c.47G>T (p.Ser16Ile)
7g.44145563C>GCA367398549GCKc.*1185G>C (n.*1185G>C)
c.*307G>C (n.*307G>C)
n.413G>C
c.221G>C (p.Ser74Thr)
c.1190G>C (p.Ser397Thr)
c.1187G>C (p.Ser396Thr)
c.1250G>C (p.Ser417Thr)
n.199G>C
c.239G>C (p.Ser80Thr)
c.1184G>C (p.Ser395Thr)
c.1136G>C (p.Ser379Thr)
n.567G>C
c.176G>C (p.Ser59Thr)
c.47G>C (p.Ser16Thr)
7g.44145563C>TCA367398551GCKc.*1185G>A (n.*1185G>A)
c.*307G>A (n.*307G>A)
n.413G>A
c.221G>A (p.Ser74Asn)
c.1190G>A (p.Ser397Asn)
c.1187G>A (p.Ser396Asn)
c.1250G>A (p.Ser417Asn)
n.199G>A
c.239G>A (p.Ser80Asn)
c.1184G>A (p.Ser395Asn)
c.1136G>A (p.Ser379Asn)
n.567G>A
c.176G>A (p.Ser59Asn)
c.47G>A (p.Ser16Asn)
7g.44145566_44145567dupCA2580615879GCKc.*1184_*1185dup (n.*1184_*1185dup)
c.*306_*307dup (n.*306_*307dup)
n.412_413dup
c.220_221dup (p.Ser74ArgfsTer7)
c.1189_1190dup (p.Ser397ArgfsTer7)
c.1186_1187dup (p.Ser396ArgfsTer7)
c.1249_1250dup (p.Ser417ArgfsTer7)
n.198_199dup
c.238_239dup (p.Ser80ArgfsTer7)
c.1183_1184dup (p.Ser395ArgfsTer7)
c.1135_1136dup (p.Ser379ArgfsTer7)
n.566_567dup
c.175_176dup (p.Ser59ArgfsTer7)
c.46_47dup (p.Ser16ArgfsTer7)
 ClinVar gnomAD v4
7g.44145564T>ACA157913439GCKc.*1184A>T (n.*1184A>T)
c.*306A>T (n.*306A>T)
n.412A>T
c.220A>T (p.Ser74Cys)
c.1189A>T (p.Ser397Cys)
c.1186A>T (p.Ser396Cys)
c.1249A>T (p.Ser417Cys)
n.198A>T
c.238A>T (p.Ser80Cys)
c.1183A>T (p.Ser395Cys)
c.1135A>T (p.Ser379Cys)
n.566A>T
c.175A>T (p.Ser59Cys)
c.46A>T (p.Ser16Cys)
 dbSNP gnomAD v4
7g.44145564T>CCA367398556GCKc.*1184A>G (n.*1184A>G)
c.*306A>G (n.*306A>G)
n.412A>G
c.220A>G (p.Ser74Gly)
c.1189A>G (p.Ser397Gly)
c.1186A>G (p.Ser396Gly)
c.1249A>G (p.Ser417Gly)
n.198A>G
c.238A>G (p.Ser80Gly)
c.1183A>G (p.Ser395Gly)
c.1135A>G (p.Ser379Gly)
n.566A>G
c.175A>G (p.Ser59Gly)
c.46A>G (p.Ser16Gly)
7g.44145564T>GCA367398558GCKc.*1184A>C (n.*1184A>C)
c.*306A>C (n.*306A>C)
n.412A>C
c.220A>C (p.Ser74Arg)
c.1189A>C (p.Ser397Arg)
c.1186A>C (p.Ser396Arg)
c.1249A>C (p.Ser417Arg)
n.198A>C
c.238A>C (p.Ser80Arg)
c.1183A>C (p.Ser395Arg)
c.1135A>C (p.Ser379Arg)
n.566A>C
c.175A>C (p.Ser59Arg)
c.46A>C (p.Ser16Arg)
7g.44145564T=CA1703612875GCKc.*1184A= (n.*1184A=)
c.*306A= (n.*306A=)
n.412A=
c.220A= (p.Ser74=)
c.1189A= (p.Ser397=)
c.1186A= (p.Ser396=)
c.1249A= (p.Ser417=)
n.198A=
c.238A= (p.Ser80=)
c.1183A= (p.Ser395=)
c.1135A= (p.Ser379=)
n.566A=
c.175A= (p.Ser59=)
c.46A= (p.Ser16=)
7g.44145565C>ACA367398561GCKc.*1183G>T (n.*1183G>T)
c.*305G>T (n.*305G>T)
n.411G>T
c.219G>T (p.Glu73Asp)
c.1188G>T (p.Glu396Asp)
c.1185G>T (p.Glu395Asp)
c.1248G>T (p.Glu416Asp)
n.197G>T
c.237G>T (p.Glu79Asp)
c.1182G>T (p.Glu394Asp)
c.1134G>T (p.Glu378Asp)
n.565G>T
c.174G>T (p.Glu58Asp)
c.45G>T (p.Glu15Asp)
 gnomAD v4
7g.44145565C=CA1703612876GCKc.*1183G= (n.*1183G=)
c.*305G= (n.*305G=)
n.411G=
c.219G= (p.Glu73=)
c.1188G= (p.Glu396=)
c.1185G= (p.Glu395=)
c.1248G= (p.Glu416=)
n.197G=
c.237G= (p.Glu79=)
c.1182G= (p.Glu394=)
c.1134G= (p.Glu378=)
n.565G=
c.174G= (p.Glu58=)
c.45G= (p.Glu15=)
7g.44145565C>GCA367398563GCKc.*1183G>C (n.*1183G>C)
c.*305G>C (n.*305G>C)
n.411G>C
c.219G>C (p.Glu73Asp)
c.1188G>C (p.Glu396Asp)
c.1185G>C (p.Glu395Asp)
c.1248G>C (p.Glu416Asp)
n.197G>C
c.237G>C (p.Glu79Asp)
c.1182G>C (p.Glu394Asp)
c.1134G>C (p.Glu378Asp)
n.565G>C
c.174G>C (p.Glu58Asp)
c.45G>C (p.Glu15Asp)
 dbSNP gnomAD v4
7g.44145565C>TCA454863180GCKc.*1183G>A (n.*1183G>A)
c.*305G>A (n.*305G>A)
n.411G>A
c.219G>A (p.Glu73=)
c.1188G>A (p.Glu396=)
c.1185G>A (p.Glu395=)
c.1248G>A (p.Glu416=)
n.197G>A
c.237G>A (p.Glu79=)
c.1182G>A (p.Glu394=)
c.1134G>A (p.Glu378=)
n.565G>A
c.174G>A (p.Glu58=)
c.45G>A (p.Glu15=)
 gnomAD v4
7g.44145566T>ACA367398565GCKc.*1182A>T (n.*1182A>T)
c.*304A>T (n.*304A>T)
n.410A>T
c.218A>T (p.Glu73Val)
c.1187A>T (p.Glu396Val)
c.1184A>T (p.Glu395Val)
c.1247A>T (p.Glu416Val)
n.196A>T
c.236A>T (p.Glu79Val)
c.1181A>T (p.Glu394Val)
c.1133A>T (p.Glu378Val)
n.564A>T
c.173A>T (p.Glu58Val)
c.44A>T (p.Glu15Val)
7g.44145566T>CCA4239419GCKc.*1182A>G (n.*1182A>G)
c.*304A>G (n.*304A>G)
n.410A>G
c.218A>G (p.Glu73Gly)
c.1187A>G (p.Glu396Gly)
c.1184A>G (p.Glu395Gly)
c.1247A>G (p.Glu416Gly)
n.196A>G
c.236A>G (p.Glu79Gly)
c.1181A>G (p.Glu394Gly)
c.1133A>G (p.Glu378Gly)
n.564A>G
c.173A>G (p.Glu58Gly)
c.44A>G (p.Glu15Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.44145566T>GCA367398568GCKc.*1182A>C (n.*1182A>C)
c.*304A>C (n.*304A>C)
n.410A>C
c.218A>C (p.Glu73Ala)
c.1187A>C (p.Glu396Ala)
c.1184A>C (p.Glu395Ala)
c.1247A>C (p.Glu416Ala)
n.196A>C
c.236A>C (p.Glu79Ala)
c.1181A>C (p.Glu394Ala)
c.1133A>C (p.Glu378Ala)
n.564A>C
c.173A>C (p.Glu58Ala)
c.44A>C (p.Glu15Ala)
7g.44145566T=CA1703612877GCKc.*1182A= (n.*1182A=)
c.*304A= (n.*304A=)
n.410A=
c.218A= (p.Glu73=)
c.1187A= (p.Glu396=)
c.1184A= (p.Glu395=)
c.1247A= (p.Glu416=)
n.196A=
c.236A= (p.Glu79=)
c.1181A= (p.Glu394=)
c.1133A= (p.Glu378=)
n.564A=
c.173A= (p.Glu58=)
c.44A= (p.Glu15=)
7g.44145567C>ACA367398575GCKc.*1181G>T (n.*1181G>T)
c.*303G>T (n.*303G>T)
n.409G>T
c.217G>T (p.Glu73Ter)
c.1186G>T (p.Glu396Ter)
c.1183G>T (p.Glu395Ter)
c.1246G>T (p.Glu416Ter)
n.195G>T
c.235G>T (p.Glu79Ter)
c.1180G>T (p.Glu394Ter)
c.1132G>T (p.Glu378Ter)
n.563G>T
c.172G>T (p.Glu58Ter)
c.43G>T (p.Glu15Ter)
 ClinVar
7g.44145567C>GCA367398570GCKc.*1181G>C (n.*1181G>C)
c.*303G>C (n.*303G>C)
n.409G>C
c.217G>C (p.Glu73Gln)
c.1186G>C (p.Glu396Gln)
c.1183G>C (p.Glu395Gln)
c.1246G>C (p.Glu416Gln)
n.195G>C
c.235G>C (p.Glu79Gln)
c.1180G>C (p.Glu394Gln)
c.1132G>C (p.Glu378Gln)
n.563G>C
c.172G>C (p.Glu58Gln)
c.43G>C (p.Glu15Gln)
7g.44145567C>TCA367398572GCKc.*1181G>A (n.*1181G>A)
c.*303G>A (n.*303G>A)
n.409G>A
c.217G>A (p.Glu73Lys)
c.1186G>A (p.Glu396Lys)
c.1183G>A (p.Glu395Lys)
c.1246G>A (p.Glu416Lys)
n.195G>A
c.235G>A (p.Glu79Lys)
c.1180G>A (p.Glu394Lys)
c.1132G>A (p.Glu378Lys)
n.563G>A
c.172G>A (p.Glu58Lys)
c.43G>A (p.Glu15Lys)
 gnomAD v4
7g.44145568_44145571delCA2682581380GCKc.*1178_*1181del (n.*1178_*1181del)
c.*300_*303del (n.*300_*303del)
n.406_409del
c.214_217del (p.Glu73AlafsTer6)
c.1183_1186del (p.Glu396AlafsTer6)
c.1180_1183del (p.Glu395AlafsTer6)
c.1243_1246del (p.Glu416AlafsTer6)
n.192_195del
c.232_235del (p.Glu79AlafsTer6)
c.1177_1180del (p.Glu394AlafsTer6)
c.1129_1132del (p.Glu378AlafsTer6)
n.560_563del
c.169_172del (p.Glu58AlafsTer6)
c.40_43del (p.Glu15AlafsTer6)
 gnomAD v4
7g.44145568G>ACA4239420GCKc.*1180C>T (n.*1180C>T)
c.*302C>T (n.*302C>T)
n.408C>T
c.216C>T (p.Arg72=)
c.1185C>T (p.Arg395=)
c.1182C>T (p.Arg394=)
c.1245C>T (p.Arg415=)
n.194C>T
c.234C>T (p.Arg78=)
c.1179C>T (p.Arg393=)
c.1131C>T (p.Arg377=)
n.562C>T
c.171C>T (p.Arg57=)
c.42C>T (p.Arg14=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.44145568G>CCA157913459GCKc.*1180C>G (n.*1180C>G)
c.*302C>G (n.*302C>G)
n.408C>G
c.216C>G (p.Arg72=)
c.1185C>G (p.Arg395=)
c.1182C>G (p.Arg394=)
c.1245C>G (p.Arg415=)
n.194C>G
c.234C>G (p.Arg78=)
c.1179C>G (p.Arg393=)
c.1131C>G (p.Arg377=)
n.562C>G
c.171C>G (p.Arg57=)
c.42C>G (p.Arg14=)
 dbSNP gnomAD v2 gnomAD v4
7g.44145568G=CA1703612878GCKc.*1180C= (n.*1180C=)
c.*302C= (n.*302C=)
n.408C=
c.216C= (p.Arg72=)
c.1185C= (p.Arg395=)
c.1182C= (p.Arg394=)
c.1245C= (p.Arg415=)
n.194C=
c.234C= (p.Arg78=)
c.1179C= (p.Arg393=)
c.1131C= (p.Arg377=)
n.562C=
c.171C= (p.Arg57=)
c.42C= (p.Arg14=)
7g.44145568G>TCA454863183GCKc.*1180C>A (n.*1180C>A)
c.*302C>A (n.*302C>A)
n.408C>A
c.216C>A (p.Arg72=)
c.1185C>A (p.Arg395=)
c.1182C>A (p.Arg394=)
c.1245C>A (p.Arg415=)
n.194C>A
c.234C>A (p.Arg78=)
c.1179C>A (p.Arg393=)
c.1131C>A (p.Arg377=)
n.562C>A
c.171C>A (p.Arg57=)
c.42C>A (p.Arg14=)
 dbSNP gnomAD v4
7g.44145568_44145569delinsCGCA2695203000GCKc.*1179_*1180delinsCG (n.*1179_*1180delinsCG)
c.*301_*302delinsCG (n.*301_*302delinsCG)
n.407_408delinsCG
c.215_216delinsCG (p.Arg72Pro)
c.1184_1185delinsCG (p.Arg395Pro)
c.1181_1182delinsCG (p.Arg394Pro)
c.1244_1245delinsCG (p.Arg415Pro)
n.193_194delinsCG
c.233_234delinsCG (p.Arg78Pro)
c.1178_1179delinsCG (p.Arg393Pro)
c.1130_1131delinsCG (p.Arg377Pro)
n.561_562delinsCG
c.170_171delinsCG (p.Arg57Pro)
c.41_42delinsCG (p.Arg14Pro)
7g.44145570_44145605delCA2682581391GCKc.*1145_*1180del (n.*1145_*1180del)
c.*267_*302del (n.*267_*302del)
n.373_408del
c.181_216del (p.Ser61_Arg72del)
c.1150_1185del (p.Ser384_Arg395del)
c.1147_1182del (p.Ser383_Arg394del)
c.1210_1245del (p.Ser404_Arg415del)
n.159_194del
c.199_234del (p.Ser67_Arg78del)
c.1144_1179del (p.Ser382_Arg393del)
c.1096_1131del (p.Ser366_Arg377del)
n.527_562del
c.136_171del (p.Ser46_Arg57del)
c.7_42del (p.Ser3_Arg14del)
 gnomAD v4
7g.44145569C>ACA367398578GCKc.*1179G>T (n.*1179G>T)
c.*301G>T (n.*301G>T)
n.407G>T
c.215G>T (p.Arg72Leu)
c.1184G>T (p.Arg395Leu)
c.1181G>T (p.Arg394Leu)
c.1244G>T (p.Arg415Leu)
n.193G>T
c.233G>T (p.Arg78Leu)
c.1178G>T (p.Arg393Leu)
c.1130G>T (p.Arg377Leu)
n.561G>T
c.170G>T (p.Arg57Leu)
c.41G>T (p.Arg14Leu)
 ClinVar dbSNP
7g.44145569C=CA1703612879GCKc.*1179G= (n.*1179G=)
c.*301G= (n.*301G=)
n.407G=
c.215G= (p.Arg72=)
c.1184G= (p.Arg395=)
c.1181G= (p.Arg394=)
c.1244G= (p.Arg415=)
n.193G=
c.233G= (p.Arg78=)
c.1178G= (p.Arg393=)
c.1130G= (p.Arg377=)
n.561G=
c.170G= (p.Arg57=)
c.41G= (p.Arg14=)
7g.44145569C>GCA367398581GCKc.*1179G>C (n.*1179G>C)
c.*301G>C (n.*301G>C)
n.407G>C
c.215G>C (p.Arg72Pro)
c.1184G>C (p.Arg395Pro)
c.1181G>C (p.Arg394Pro)
c.1244G>C (p.Arg415Pro)
n.193G>C
c.233G>C (p.Arg78Pro)
c.1178G>C (p.Arg393Pro)
c.1130G>C (p.Arg377Pro)
n.561G>C
c.170G>C (p.Arg57Pro)
c.41G>C (p.Arg14Pro)
 ClinVar
7g.44145569C>TCA367398582GCKc.*1179G>A (n.*1179G>A)
c.*301G>A (n.*301G>A)
n.407G>A
c.215G>A (p.Arg72His)
c.1184G>A (p.Arg395His)
c.1181G>A (p.Arg394His)
c.1244G>A (p.Arg415His)
n.193G>A
c.233G>A (p.Arg78His)
c.1178G>A (p.Arg393His)
c.1130G>A (p.Arg377His)
n.561G>A
c.170G>A (p.Arg57His)
c.41G>A (p.Arg14His)
 dbSNP gnomAD v3 gnomAD v4
7g.44145570G>ACA367398588GCKc.*1178C>T (n.*1178C>T)
c.*300C>T (n.*300C>T)
n.406C>T
c.214C>T (p.Arg72Cys)
c.1183C>T (p.Arg395Cys)
c.1180C>T (p.Arg394Cys)
c.1243C>T (p.Arg415Cys)
n.192C>T
c.232C>T (p.Arg78Cys)
c.1177C>T (p.Arg393Cys)
c.1129C>T (p.Arg377Cys)
n.560C>T
c.169C>T (p.Arg57Cys)
c.40C>T (p.Arg14Cys)
 ClinVar gnomAD v4
7g.44145570G>CCA367398586GCKc.*1178C>G (n.*1178C>G)
c.*300C>G (n.*300C>G)
n.406C>G
c.214C>G (p.Arg72Gly)
c.1183C>G (p.Arg395Gly)
c.1180C>G (p.Arg394Gly)
c.1243C>G (p.Arg415Gly)
n.192C>G
c.232C>G (p.Arg78Gly)
c.1177C>G (p.Arg393Gly)
c.1129C>G (p.Arg377Gly)
n.560C>G
c.169C>G (p.Arg57Gly)
c.40C>G (p.Arg14Gly)
 gnomAD v4
7g.44145570G=CA1703612880GCKc.*1178C= (n.*1178C=)
c.*300C= (n.*300C=)
n.406C=
c.214C= (p.Arg72=)
c.1183C= (p.Arg395=)
c.1180C= (p.Arg394=)
c.1243C= (p.Arg415=)
n.192C=
c.232C= (p.Arg78=)
c.1177C= (p.Arg393=)
c.1129C= (p.Arg377=)
n.560C=
c.169C= (p.Arg57=)
c.40C= (p.Arg14=)
7g.44145570G>TCA367398584GCKc.*1178C>A (n.*1178C>A)
c.*300C>A (n.*300C>A)
n.406C>A
c.214C>A (p.Arg72Ser)
c.1183C>A (p.Arg395Ser)
c.1180C>A (p.Arg394Ser)
c.1243C>A (p.Arg415Ser)
n.192C>A
c.232C>A (p.Arg78Ser)
c.1177C>A (p.Arg393Ser)
c.1129C>A (p.Arg377Ser)
n.560C>A
c.169C>A (p.Arg57Ser)
c.40C>A (p.Arg14Ser)
 dbSNP gnomAD v4
7g.44145571C>ACA367398590GCKc.*1177G>T (n.*1177G>T)
c.*299G>T (n.*299G>T)
n.405G>T
c.213G>T (p.Met71Ile)
c.1182G>T (p.Met394Ile)
c.1179G>T (p.Met393Ile)
c.1242G>T (p.Met414Ile)
n.191G>T
c.231G>T (p.Met77Ile)
c.1176G>T (p.Met392Ile)
c.1128G>T (p.Met376Ile)
n.559G>T
c.168G>T (p.Met56Ile)
c.39G>T (p.Met13Ile)
 gnomAD v4
7g.44145571C>GCA367398593GCKc.*1177G>C (n.*1177G>C)
c.*299G>C (n.*299G>C)
n.405G>C
c.213G>C (p.Met71Ile)
c.1182G>C (p.Met394Ile)
c.1179G>C (p.Met393Ile)
c.1242G>C (p.Met414Ile)
n.191G>C
c.231G>C (p.Met77Ile)
c.1176G>C (p.Met392Ile)
c.1128G>C (p.Met376Ile)
n.559G>C
c.168G>C (p.Met56Ile)
c.39G>C (p.Met13Ile)
7g.44145571C>TCA367398595GCKc.*1177G>A (n.*1177G>A)
c.*299G>A (n.*299G>A)
n.405G>A
c.213G>A (p.Met71Ile)
c.1182G>A (p.Met394Ile)
c.1179G>A (p.Met393Ile)
c.1242G>A (p.Met414Ile)
n.191G>A
c.231G>A (p.Met77Ile)
c.1176G>A (p.Met392Ile)
c.1128G>A (p.Met376Ile)
n.559G>A
c.168G>A (p.Met56Ile)
c.39G>A (p.Met13Ile)
 gnomAD v4
7g.44145572A=CA1703612881GCKc.*1176T= (n.*1176T=)
c.*298T= (n.*298T=)
n.404T=
c.212T= (p.Met71=)
c.1181T= (p.Met394=)
c.1178T= (p.Met393=)
c.1241T= (p.Met414=)
n.190T=
c.230T= (p.Met77=)
c.1175T= (p.Met392=)
c.1127T= (p.Met376=)
n.558T=
c.167T= (p.Met56=)
c.38T= (p.Met13=)
7g.44145572A>CCA367398598GCKc.*1176T>G (n.*1176T>G)
c.*298T>G (n.*298T>G)
n.404T>G
c.212T>G (p.Met71Arg)
c.1181T>G (p.Met394Arg)
c.1178T>G (p.Met393Arg)
c.1241T>G (p.Met414Arg)
n.190T>G
c.230T>G (p.Met77Arg)
c.1175T>G (p.Met392Arg)
c.1127T>G (p.Met376Arg)
n.558T>G
c.167T>G (p.Met56Arg)
c.38T>G (p.Met13Arg)
7g.44145572A>GCA367398600GCKc.*1176T>C (n.*1176T>C)
c.*298T>C (n.*298T>C)
n.404T>C
c.212T>C (p.Met71Thr)
c.1181T>C (p.Met394Thr)
c.1178T>C (p.Met393Thr)
c.1241T>C (p.Met414Thr)
n.190T>C
c.230T>C (p.Met77Thr)
c.1175T>C (p.Met392Thr)
c.1127T>C (p.Met376Thr)
n.558T>C
c.167T>C (p.Met56Thr)
c.38T>C (p.Met13Thr)
 ClinVar dbSNP
7g.44145572A>TCA367398603GCKc.*1176T>A (n.*1176T>A)
c.*298T>A (n.*298T>A)
n.404T>A
c.212T>A (p.Met71Lys)
c.1181T>A (p.Met394Lys)
c.1178T>A (p.Met393Lys)
c.1241T>A (p.Met414Lys)
n.190T>A
c.230T>A (p.Met77Lys)
c.1175T>A (p.Met392Lys)
c.1127T>A (p.Met376Lys)
n.558T>A
c.167T>A (p.Met56Lys)
c.38T>A (p.Met13Lys)
7g.44145573T>ACA367398605GCKc.*1175A>T (n.*1175A>T)
c.*297A>T (n.*297A>T)
n.403A>T
c.211A>T (p.Met71Leu)
c.1180A>T (p.Met394Leu)
c.1177A>T (p.Met393Leu)
c.1240A>T (p.Met414Leu)
n.189A>T
c.229A>T (p.Met77Leu)
c.1174A>T (p.Met392Leu)
c.1126A>T (p.Met376Leu)
n.557A>T
c.166A>T (p.Met56Leu)
c.37A>T (p.Met13Leu)
7g.44145573T>CCA367398611GCKc.*1175A>G (n.*1175A>G)
c.*297A>G (n.*297A>G)
n.403A>G
c.211A>G (p.Met71Val)
c.1180A>G (p.Met394Val)
c.1177A>G (p.Met393Val)
c.1240A>G (p.Met414Val)
n.189A>G
c.229A>G (p.Met77Val)
c.1174A>G (p.Met392Val)
c.1126A>G (p.Met376Val)
n.557A>G
c.166A>G (p.Met56Val)
c.37A>G (p.Met13Val)
7g.44145573T>GCA367398608GCKc.*1175A>C (n.*1175A>C)
c.*297A>C (n.*297A>C)
n.403A>C
c.211A>C (p.Met71Leu)
c.1180A>C (p.Met394Leu)
c.1177A>C (p.Met393Leu)
c.1240A>C (p.Met414Leu)
n.189A>C
c.229A>C (p.Met77Leu)
c.1174A>C (p.Met392Leu)
c.1126A>C (p.Met376Leu)
n.557A>C
c.166A>C (p.Met56Leu)
c.37A>C (p.Met13Leu)
7g.44145574G>ACA454863190GCKc.*1174C>T (n.*1174C>T)
c.*296C>T (n.*296C>T)
n.402C>T
c.210C>T (p.Arg70=)
c.1179C>T (p.Arg393=)
c.1176C>T (p.Arg392=)
c.1239C>T (p.Arg413=)
n.188C>T
c.228C>T (p.Arg76=)
c.1173C>T (p.Arg391=)
c.1125C>T (p.Arg375=)
n.556C>T
c.165C>T (p.Arg55=)
c.36C>T (p.Arg12=)
 gnomAD v4
7g.44145574G>CCA454863189GCKc.*1174C>G (n.*1174C>G)
c.*296C>G (n.*296C>G)
n.402C>G
c.210C>G (p.Arg70=)
c.1179C>G (p.Arg393=)
c.1176C>G (p.Arg392=)
c.1239C>G (p.Arg413=)
n.188C>G
c.228C>G (p.Arg76=)
c.1173C>G (p.Arg391=)
c.1125C>G (p.Arg375=)
n.556C>G
c.165C>G (p.Arg55=)
c.36C>G (p.Arg12=)
7g.44145574G>TCA454863188GCKc.*1174C>A (n.*1174C>A)
c.*296C>A (n.*296C>A)
n.402C>A
c.210C>A (p.Arg70=)
c.1179C>A (p.Arg393=)
c.1176C>A (p.Arg392=)
c.1239C>A (p.Arg413=)
n.188C>A
c.228C>A (p.Arg76=)
c.1173C>A (p.Arg391=)
c.1125C>A (p.Arg375=)
n.556C>A
c.165C>A (p.Arg55=)
c.36C>A (p.Arg12=)
7g.44145575C>ACA213733GCKc.*1173G>T (n.*1173G>T)
c.*295G>T (n.*295G>T)
n.401G>T
c.209G>T (p.Arg70Leu)
c.1178G>T (p.Arg393Leu)
c.1175G>T (p.Arg392Leu)
c.1238G>T (p.Arg413Leu)
n.187G>T
c.227G>T (p.Arg76Leu)
c.1172G>T (p.Arg391Leu)
c.1124G>T (p.Arg375Leu)
n.555G>T
c.164G>T (p.Arg55Leu)
c.35G>T (p.Arg12Leu)
 ClinVar dbSNP gnomAD v4
7g.44145575C=CA1703612882GCKc.*1173G= (n.*1173G=)
c.*295G= (n.*295G=)
n.401G=
c.209G= (p.Arg70=)
c.1178G= (p.Arg393=)
c.1175G= (p.Arg392=)
c.1238G= (p.Arg413=)
n.187G=
c.227G= (p.Arg76=)
c.1172G= (p.Arg391=)
c.1124G= (p.Arg375=)
n.555G=
c.164G= (p.Arg55=)
c.35G= (p.Arg12=)
7g.44145575C>GCA367398617GCKc.*1173G>C (n.*1173G>C)
c.*295G>C (n.*295G>C)
n.401G>C
c.209G>C (p.Arg70Pro)
c.1178G>C (p.Arg393Pro)
c.1175G>C (p.Arg392Pro)
c.1238G>C (p.Arg413Pro)
n.187G>C
c.227G>C (p.Arg76Pro)
c.1172G>C (p.Arg391Pro)
c.1124G>C (p.Arg375Pro)
n.555G>C
c.164G>C (p.Arg55Pro)
c.35G>C (p.Arg12Pro)
 ClinVar
7g.44145575C>TCA367398620GCKc.*1173G>A (n.*1173G>A)
c.*295G>A (n.*295G>A)
n.401G>A
c.209G>A (p.Arg70His)
c.1178G>A (p.Arg393His)
c.1175G>A (p.Arg392His)
c.1238G>A (p.Arg413His)
n.187G>A
c.227G>A (p.Arg76His)
c.1172G>A (p.Arg391His)
c.1124G>A (p.Arg375His)
n.555G>A
c.164G>A (p.Arg55His)
c.35G>A (p.Arg12His)
 gnomAD v4
7g.44145576G>ACA367398622GCKc.*1172C>T (n.*1172C>T)
c.*294C>T (n.*294C>T)
n.400C>T
c.208C>T (p.Arg70Cys)
c.1177C>T (p.Arg393Cys)
c.1174C>T (p.Arg392Cys)
c.1237C>T (p.Arg413Cys)
n.186C>T
c.226C>T (p.Arg76Cys)
c.1171C>T (p.Arg391Cys)
c.1123C>T (p.Arg375Cys)
n.554C>T
c.163C>T (p.Arg55Cys)
c.34C>T (p.Arg12Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.44145576G>CCA367398625GCKc.*1172C>G (n.*1172C>G)
c.*294C>G (n.*294C>G)
n.400C>G
c.208C>G (p.Arg70Gly)
c.1177C>G (p.Arg393Gly)
c.1174C>G (p.Arg392Gly)
c.1237C>G (p.Arg413Gly)
n.186C>G
c.226C>G (p.Arg76Gly)
c.1171C>G (p.Arg391Gly)
c.1123C>G (p.Arg375Gly)
n.554C>G
c.163C>G (p.Arg55Gly)
c.34C>G (p.Arg12Gly)
 ClinVar dbSNP
7g.44145576G=CA1703612883GCKc.*1172C= (n.*1172C=)
c.*294C= (n.*294C=)
n.400C=
c.208C= (p.Arg70=)
c.1177C= (p.Arg393=)
c.1174C= (p.Arg392=)
c.1237C= (p.Arg413=)
n.186C=
c.226C= (p.Arg76=)
c.1171C= (p.Arg391=)
c.1123C= (p.Arg375=)
n.554C=
c.163C= (p.Arg55=)
c.34C= (p.Arg12=)
7g.44145576G>TCA367398628GCKc.*1172C>A (n.*1172C>A)
c.*294C>A (n.*294C>A)
n.400C>A
c.208C>A (p.Arg70Ser)
c.1177C>A (p.Arg393Ser)
c.1174C>A (p.Arg392Ser)
c.1237C>A (p.Arg413Ser)
n.186C>A
c.226C>A (p.Arg76Ser)
c.1171C>A (p.Arg391Ser)
c.1123C>A (p.Arg375Ser)
n.554C>A
c.163C>A (p.Arg55Ser)
c.34C>A (p.Arg12Ser)
 ClinVar gnomAD v4
7g.44145577G>ACA454863194GCKc.*1171C>T (n.*1171C>T)
c.*293C>T (n.*293C>T)
n.399C>T
c.207C>T (p.Asn69=)
c.1176C>T (p.Asn392=)
c.1173C>T (p.Asn391=)
c.1236C>T (p.Asn412=)
n.185C>T
c.225C>T (p.Asn75=)
c.1170C>T (p.Asn390=)
c.1122C>T (p.Asn374=)
n.553C>T
c.162C>T (p.Asn54=)
c.33C>T (p.Asn11=)
7g.44145577G>CCA367398630GCKc.*1171C>G (n.*1171C>G)
c.*293C>G (n.*293C>G)
n.399C>G
c.207C>G (p.Asn69Lys)
c.1176C>G (p.Asn392Lys)
c.1173C>G (p.Asn391Lys)
c.1236C>G (p.Asn412Lys)
n.185C>G
c.225C>G (p.Asn75Lys)
c.1170C>G (p.Asn390Lys)
c.1122C>G (p.Asn374Lys)
n.553C>G
c.162C>G (p.Asn54Lys)
c.33C>G (p.Asn11Lys)
7g.44145577G=CA1703612884GCKc.*1171C= (n.*1171C=)
c.*293C= (n.*293C=)
n.399C=
c.207C= (p.Asn69=)
c.1176C= (p.Asn392=)
c.1173C= (p.Asn391=)
c.1236C= (p.Asn412=)
n.185C=
c.225C= (p.Asn75=)
c.1170C= (p.Asn390=)
c.1122C= (p.Asn374=)
n.553C=
c.162C= (p.Asn54=)
c.33C= (p.Asn11=)
7g.44145577G>TCA367398633GCKc.*1171C>A (n.*1171C>A)
c.*293C>A (n.*293C>A)
n.399C>A
c.207C>A (p.Asn69Lys)
c.1176C>A (p.Asn392Lys)
c.1173C>A (p.Asn391Lys)
c.1236C>A (p.Asn412Lys)
n.185C>A
c.225C>A (p.Asn75Lys)
c.1170C>A (p.Asn390Lys)
c.1122C>A (p.Asn374Lys)
n.553C>A
c.162C>A (p.Asn54Lys)
c.33C>A (p.Asn11Lys)
 ClinVar dbSNP gnomAD v4
7g.44145577_44145578delinsGTCA1703612885GCKc.*1170_*1171delinsAC (n.*1170_*1171delinsAC)
c.*292_*293delinsAC (n.*292_*293delinsAC)
n.398_399delinsAC
c.206_207delinsAC (p.Asn69=)
c.1175_1176delinsAC (p.Asn392=)
c.1172_1173delinsAC (p.Asn391=)
c.1235_1236delinsAC (p.Asn412=)
n.184_185delinsAC
c.224_225delinsAC (p.Asn75=)
c.1169_1170delinsAC (p.Asn390=)
c.1121_1122delinsAC (p.Asn374=)
n.552_553delinsAC
c.161_162delinsAC (p.Asn54=)
c.32_33delinsAC (p.Asn11=)
7g.44145578T>ACA367398635GCKc.*1170A>T (n.*1170A>T)
c.*292A>T (n.*292A>T)
n.398A>T
c.206A>T (p.Asn69Ile)
c.1175A>T (p.Asn392Ile)
c.1172A>T (p.Asn391Ile)
c.1235A>T (p.Asn412Ile)
n.184A>T
c.224A>T (p.Asn75Ile)
c.1169A>T (p.Asn390Ile)
c.1121A>T (p.Asn374Ile)
n.552A>T
c.161A>T (p.Asn54Ile)
c.32A>T (p.Asn11Ile)
7g.44145578T>CCA367398637GCKc.*1170A>G (n.*1170A>G)
c.*292A>G (n.*292A>G)
n.398A>G
c.206A>G (p.Asn69Ser)
c.1175A>G (p.Asn392Ser)
c.1172A>G (p.Asn391Ser)
c.1235A>G (p.Asn412Ser)
n.184A>G
c.224A>G (p.Asn75Ser)
c.1169A>G (p.Asn390Ser)
c.1121A>G (p.Asn374Ser)
n.552A>G
c.161A>G (p.Asn54Ser)
c.32A>G (p.Asn11Ser)
7g.44145578T>GCA367398639GCKc.*1170A>C (n.*1170A>C)
c.*292A>C (n.*292A>C)
n.398A>C
c.206A>C (p.Asn69Thr)
c.1175A>C (p.Asn392Thr)
c.1172A>C (p.Asn391Thr)
c.1235A>C (p.Asn412Thr)
n.184A>C
c.224A>C (p.Asn75Thr)
c.1169A>C (p.Asn390Thr)
c.1121A>C (p.Asn374Thr)
n.552A>C
c.161A>C (p.Asn54Thr)
c.32A>C (p.Asn11Thr)
7g.44145579delCA1703612886GCKc.*1170del (n.*1170del)
c.*292del (n.*292del)
n.398del
c.206del (p.Asn69ThrfsTer11)
c.1175del (p.Asn392ThrfsTer11)
c.1172del (p.Asn391ThrfsTer11)
c.1235del (p.Asn412ThrfsTer11)
n.184del
c.224del (p.Asn75ThrfsTer11)
c.1169del (p.Asn390ThrfsTer11)
c.1121del (p.Asn374ThrfsTer11)
n.552del
c.161del (p.Asn54ThrfsTer11)
c.32del (p.Asn11ThrfsTer11)
 dbSNP
7g.44145579T>ACA367398642GCKc.*1169A>T (n.*1169A>T)
c.*291A>T (n.*291A>T)
n.397A>T
c.205A>T (p.Asn69Tyr)
c.1174A>T (p.Asn392Tyr)
c.1171A>T (p.Asn391Tyr)
c.1234A>T (p.Asn412Tyr)
n.183A>T
c.223A>T (p.Asn75Tyr)
c.1168A>T (p.Asn390Tyr)
c.1120A>T (p.Asn374Tyr)
n.551A>T
c.160A>T (p.Asn54Tyr)
c.31A>T (p.Asn11Tyr)
7g.44145579T>CCA367398645GCKc.*1169A>G (n.*1169A>G)
c.*291A>G (n.*291A>G)
n.397A>G
c.205A>G (p.Asn69Asp)
c.1174A>G (p.Asn392Asp)
c.1171A>G (p.Asn391Asp)
c.1234A>G (p.Asn412Asp)
n.183A>G
c.223A>G (p.Asn75Asp)
c.1168A>G (p.Asn390Asp)
c.1120A>G (p.Asn374Asp)
n.551A>G
c.160A>G (p.Asn54Asp)
c.31A>G (p.Asn11Asp)
7g.44145579T>GCA367398643GCKc.*1169A>C (n.*1169A>C)
c.*291A>C (n.*291A>C)
n.397A>C
c.205A>C (p.Asn69His)
c.1174A>C (p.Asn392His)
c.1171A>C (p.Asn391His)
c.1234A>C (p.Asn412His)
n.183A>C
c.223A>C (p.Asn75His)
c.1168A>C (p.Asn390His)
c.1120A>C (p.Asn374His)
n.551A>C
c.160A>C (p.Asn54His)
c.31A>C (p.Asn11His)
7g.44145582_44145584delCA2580612099GCKc.*1167_*1169del (n.*1167_*1169del)
c.*289_*291del (n.*289_*291del)
n.395_397del
c.203_205del (p.Ile68del)
c.1172_1174del (p.Ile391del)
c.1169_1171del (p.Ile390del)
c.1232_1234del (p.Ile411del)
n.181_183del
c.221_223del (p.Ile74del)
c.1166_1168del (p.Ile389del)
c.1118_1120del (p.Ile373del)
n.549_551del
c.158_160del (p.Ile53del)
c.29_31del (p.Ile10del)
 ClinVar dbSNP gnomAD v4
7g.44145580G>ACA454863198GCKc.*1168C>T (n.*1168C>T)
c.*290C>T (n.*290C>T)
n.396C>T
c.204C>T (p.Ile68=)
c.1173C>T (p.Ile391=)
c.1170C>T (p.Ile390=)
c.1233C>T (p.Ile411=)
n.182C>T
c.222C>T (p.Ile74=)
c.1167C>T (p.Ile389=)
c.1119C>T (p.Ile373=)
n.550C>T
c.159C>T (p.Ile53=)
c.30C>T (p.Ile10=)
7g.44145580G>CCA367398648GCKc.*1168C>G (n.*1168C>G)
c.*290C>G (n.*290C>G)
n.396C>G
c.204C>G (p.Ile68Met)
c.1173C>G (p.Ile391Met)
c.1170C>G (p.Ile390Met)
c.1233C>G (p.Ile411Met)
n.182C>G
c.222C>G (p.Ile74Met)
c.1167C>G (p.Ile389Met)
c.1119C>G (p.Ile373Met)
n.550C>G
c.159C>G (p.Ile53Met)
c.30C>G (p.Ile10Met)
7g.44145580G>TCA454863199GCKc.*1168C>A (n.*1168C>A)
c.*290C>A (n.*290C>A)
n.396C>A
c.204C>A (p.Ile68=)
c.1173C>A (p.Ile391=)
c.1170C>A (p.Ile390=)
c.1233C>A (p.Ile411=)
n.182C>A
c.222C>A (p.Ile74=)
c.1167C>A (p.Ile389=)
c.1119C>A (p.Ile373=)
n.550C>A
c.159C>A (p.Ile53=)
c.30C>A (p.Ile10=)
 gnomAD v4
7g.44145581delCA2580610955GCKc.*1167del (n.*1167del)
c.*289del (n.*289del)
n.395del
c.203del (p.Ile68ThrfsTer12)
c.1172del (p.Ile391ThrfsTer12)
c.1169del (p.Ile390ThrfsTer12)
c.1232del (p.Ile411ThrfsTer12)
n.181del
c.221del (p.Ile74ThrfsTer12)
c.1166del (p.Ile389ThrfsTer12)
c.1118del (p.Ile373ThrfsTer12)
n.549del
c.158del (p.Ile53ThrfsTer12)
c.29del (p.Ile10ThrfsTer12)
 ClinVar
7g.44145581A=CA1703612887GCKc.*1167T= (n.*1167T=)
c.*289T= (n.*289T=)
n.395T=
c.203T= (p.Ile68=)
c.1172T= (p.Ile391=)
c.1169T= (p.Ile390=)
c.1232T= (p.Ile411=)
n.181T=
c.221T= (p.Ile74=)
c.1166T= (p.Ile389=)
c.1118T= (p.Ile373=)
n.549T=
c.158T= (p.Ile53=)
c.29T= (p.Ile10=)
7g.44145581A>CCA367398649GCKc.*1167T>G (n.*1167T>G)
c.*289T>G (n.*289T>G)
n.395T>G
c.203T>G (p.Ile68Ser)
c.1172T>G (p.Ile391Ser)
c.1169T>G (p.Ile390Ser)
c.1232T>G (p.Ile411Ser)
n.181T>G
c.221T>G (p.Ile74Ser)
c.1166T>G (p.Ile389Ser)
c.1118T>G (p.Ile373Ser)
n.549T>G
c.158T>G (p.Ile53Ser)
c.29T>G (p.Ile10Ser)
7g.44145581A>GCA213731GCKc.*1167T>C (n.*1167T>C)
c.*289T>C (n.*289T>C)
n.395T>C
c.203T>C (p.Ile68Thr)
c.1172T>C (p.Ile391Thr)
c.1169T>C (p.Ile390Thr)
c.1232T>C (p.Ile411Thr)
n.181T>C
c.221T>C (p.Ile74Thr)
c.1166T>C (p.Ile389Thr)
c.1118T>C (p.Ile373Thr)
n.549T>C
c.158T>C (p.Ile53Thr)
c.29T>C (p.Ile10Thr)
 ClinVar dbSNP
7g.44145581A>TCA213729GCKc.*1167T>A (n.*1167T>A)
c.*289T>A (n.*289T>A)
n.395T>A
c.203T>A (p.Ile68Asn)
c.1172T>A (p.Ile391Asn)
c.1169T>A (p.Ile390Asn)
c.1232T>A (p.Ile411Asn)
n.181T>A
c.221T>A (p.Ile74Asn)
c.1166T>A (p.Ile389Asn)
c.1118T>A (p.Ile373Asn)
n.549T>A
c.158T>A (p.Ile53Asn)
c.29T>A (p.Ile10Asn)
 ClinVar dbSNP
7g.44145582T>ACA367398650GCKc.*1166A>T (n.*1166A>T)
c.*288A>T (n.*288A>T)
n.394A>T
c.202A>T (p.Ile68Phe)
c.1171A>T (p.Ile391Phe)
c.1168A>T (p.Ile390Phe)
c.1231A>T (p.Ile411Phe)
n.180A>T
c.220A>T (p.Ile74Phe)
c.1165A>T (p.Ile389Phe)
c.1117A>T (p.Ile373Phe)
n.548A>T
c.157A>T (p.Ile53Phe)
c.28A>T (p.Ile10Phe)
7g.44145582T>CCA367398651GCKc.*1166A>G (n.*1166A>G)
c.*288A>G (n.*288A>G)
n.394A>G
c.202A>G (p.Ile68Val)
c.1171A>G (p.Ile391Val)
c.1168A>G (p.Ile390Val)
c.1231A>G (p.Ile411Val)
n.180A>G
c.220A>G (p.Ile74Val)
c.1165A>G (p.Ile389Val)
c.1117A>G (p.Ile373Val)
n.548A>G
c.157A>G (p.Ile53Val)
c.28A>G (p.Ile10Val)
 dbSNP gnomAD v3 gnomAD v4
7g.44145582T>GCA367398654GCKc.*1166A>C (n.*1166A>C)
c.*288A>C (n.*288A>C)
n.394A>C
c.202A>C (p.Ile68Leu)
c.1171A>C (p.Ile391Leu)
c.1168A>C (p.Ile390Leu)
c.1231A>C (p.Ile411Leu)
n.180A>C
c.220A>C (p.Ile74Leu)
c.1165A>C (p.Ile389Leu)
c.1117A>C (p.Ile373Leu)
n.548A>C
c.157A>C (p.Ile53Leu)
c.28A>C (p.Ile10Leu)
7g.44145582T=CA1703612888GCKc.*1166A= (n.*1166A=)
c.*288A= (n.*288A=)
n.394A=
c.202A= (p.Ile68=)
c.1171A= (p.Ile391=)
c.1168A= (p.Ile390=)
c.1231A= (p.Ile411=)
n.180A=
c.220A= (p.Ile74=)
c.1165A= (p.Ile389=)
c.1117A= (p.Ile373=)
n.548A=
c.157A= (p.Ile53=)
c.28A= (p.Ile10=)
7g.44145583G>ACA454863202GCKc.*1165C>T (n.*1165C>T)
c.*287C>T (n.*287C>T)
n.393C>T
c.201C>T (p.Val67=)
c.1170C>T (p.Val390=)
c.1167C>T (p.Val389=)
c.1230C>T (p.Val410=)
n.179C>T
c.219C>T (p.Val73=)
c.1164C>T (p.Val388=)
c.1116C>T (p.Val372=)
n.547C>T
c.156C>T (p.Val52=)
c.27C>T (p.Val9=)
 gnomAD v4
7g.44145583G>CCA454863203GCKc.*1165C>G (n.*1165C>G)
c.*287C>G (n.*287C>G)
n.393C>G
c.201C>G (p.Val67=)
c.1170C>G (p.Val390=)
c.1167C>G (p.Val389=)
c.1230C>G (p.Val410=)
n.179C>G
c.219C>G (p.Val73=)
c.1164C>G (p.Val388=)
c.1116C>G (p.Val372=)
n.547C>G
c.156C>G (p.Val52=)
c.27C>G (p.Val9=)
7g.44145583G>TCA454863204GCKc.*1165C>A (n.*1165C>A)
c.*287C>A (n.*287C>A)
n.393C>A
c.201C>A (p.Val67=)
c.1170C>A (p.Val390=)
c.1167C>A (p.Val389=)
c.1230C>A (p.Val410=)
n.179C>A
c.219C>A (p.Val73=)
c.1164C>A (p.Val388=)
c.1116C>A (p.Val372=)
n.547C>A
c.156C>A (p.Val52=)
c.27C>A (p.Val9=)
7g.44145584A=CA1703612889GCKc.*1164T= (n.*1164T=)
c.*286T= (n.*286T=)
n.392T=
c.200T= (p.Val67=)
c.1169T= (p.Val390=)
c.1166T= (p.Val389=)
c.1229T= (p.Val410=)
n.178T=
c.218T= (p.Val73=)
c.1163T= (p.Val388=)
c.1115T= (p.Val372=)
n.546T=
c.155T= (p.Val52=)
c.26T= (p.Val9=)
7g.44145584A>CCA367398655GCKc.*1164T>G (n.*1164T>G)
c.*286T>G (n.*286T>G)
n.392T>G
c.200T>G (p.Val67Gly)
c.1169T>G (p.Val390Gly)
c.1166T>G (p.Val389Gly)
c.1229T>G (p.Val410Gly)
n.178T>G
c.218T>G (p.Val73Gly)
c.1163T>G (p.Val388Gly)
c.1115T>G (p.Val372Gly)
n.546T>G
c.155T>G (p.Val52Gly)
c.26T>G (p.Val9Gly)
7g.44145584A>GCA367398657GCKc.*1164T>C (n.*1164T>C)
c.*286T>C (n.*286T>C)
n.392T>C
c.200T>C (p.Val67Ala)
c.1169T>C (p.Val390Ala)
c.1166T>C (p.Val389Ala)
c.1229T>C (p.Val410Ala)
n.178T>C
c.218T>C (p.Val73Ala)
c.1163T>C (p.Val388Ala)
c.1115T>C (p.Val372Ala)
n.546T>C
c.155T>C (p.Val52Ala)
c.26T>C (p.Val9Ala)
 ClinVar
7g.44145584A>TCA367398660GCKc.*1164T>A (n.*1164T>A)
c.*286T>A (n.*286T>A)
n.392T>A
c.200T>A (p.Val67Asp)
c.1169T>A (p.Val390Asp)
c.1166T>A (p.Val389Asp)
c.1229T>A (p.Val410Asp)
n.178T>A
c.218T>A (p.Val73Asp)
c.1163T>A (p.Val388Asp)
c.1115T>A (p.Val372Asp)
n.546T>A
c.155T>A (p.Val52Asp)
c.26T>A (p.Val9Asp)
 dbSNP
7g.44145585delCA2695203008GCKc.*1163del (n.*1163del)
c.*285del (n.*285del)
n.391del
c.199del (p.Val67SerfsTer13)
c.1168del (p.Val390SerfsTer13)
c.1165del (p.Val389SerfsTer13)
c.1228del (p.Val410SerfsTer13)
n.177del
c.217del (p.Val73SerfsTer13)
c.1162del (p.Val388SerfsTer13)
c.1114del (p.Val372SerfsTer13)
n.545del
c.154del (p.Val52SerfsTer13)
c.25del (p.Val9SerfsTer13)
7g.44145585C>ACA367398662GCKc.*1163G>T (n.*1163G>T)
c.*285G>T (n.*285G>T)
n.391G>T
c.199G>T (p.Val67Phe)
c.1168G>T (p.Val390Phe)
c.1165G>T (p.Val389Phe)
c.1228G>T (p.Val410Phe)
n.177G>T
c.217G>T (p.Val73Phe)
c.1162G>T (p.Val388Phe)
c.1114G>T (p.Val372Phe)
n.545G>T
c.154G>T (p.Val52Phe)
c.25G>T (p.Val9Phe)
 gnomAD v4
7g.44145585C=CA1703612890GCKc.*1163G= (n.*1163G=)
c.*285G= (n.*285G=)
n.391G=
c.199G= (p.Val67=)
c.1168G= (p.Val390=)
c.1165G= (p.Val389=)
c.1228G= (p.Val410=)
n.177G=
c.217G= (p.Val73=)
c.1162G= (p.Val388=)
c.1114G= (p.Val372=)
n.545G=
c.154G= (p.Val52=)
c.25G= (p.Val9=)
7g.44145585C>GCA367398665GCKc.*1163G>C (n.*1163G>C)
c.*285G>C (n.*285G>C)
n.391G>C
c.199G>C (p.Val67Leu)
c.1168G>C (p.Val390Leu)
c.1165G>C (p.Val389Leu)
c.1228G>C (p.Val410Leu)
n.177G>C
c.217G>C (p.Val73Leu)
c.1162G>C (p.Val388Leu)
c.1114G>C (p.Val372Leu)
n.545G>C
c.154G>C (p.Val52Leu)
c.25G>C (p.Val9Leu)
 ClinVar dbSNP
7g.44145585C>TCA367398667GCKc.*1163G>A (n.*1163G>A)
c.*285G>A (n.*285G>A)
n.391G>A
c.199G>A (p.Val67Ile)
c.1168G>A (p.Val390Ile)
c.1165G>A (p.Val389Ile)
c.1228G>A (p.Val410Ile)
n.177G>A
c.217G>A (p.Val73Ile)
c.1162G>A (p.Val388Ile)
c.1114G>A (p.Val372Ile)
n.545G>A
c.154G>A (p.Val52Ile)
c.25G>A (p.Val9Ile)
 dbSNP gnomAD v2 gnomAD v4
7g.44145586G>ACA454863206GCKc.*1162C>T (n.*1162C>T)
c.*284C>T (n.*284C>T)
n.390C>T
c.198C>T (p.Gly66=)
c.1167C>T (p.Gly389=)
c.1164C>T (p.Gly388=)
c.1227C>T (p.Gly409=)
n.176C>T
c.216C>T (p.Gly72=)
c.1161C>T (p.Gly387=)
c.1113C>T (p.Gly371=)
n.544C>T
c.153C>T (p.Gly51=)
c.24C>T (p.Gly8=)
7g.44145586G>CCA454863207GCKc.*1162C>G (n.*1162C>G)
c.*284C>G (n.*284C>G)
n.390C>G
c.198C>G (p.Gly66=)
c.1167C>G (p.Gly389=)
c.1164C>G (p.Gly388=)
c.1227C>G (p.Gly409=)
n.176C>G
c.216C>G (p.Gly72=)
c.1161C>G (p.Gly387=)
c.1113C>G (p.Gly371=)
n.544C>G
c.153C>G (p.Gly51=)
c.24C>G (p.Gly8=)
 gnomAD v4
7g.44145586G=CA1703612891GCKc.*1162C= (n.*1162C=)
c.*284C= (n.*284C=)
n.390C=
c.198C= (p.Gly66=)
c.1167C= (p.Gly389=)
c.1164C= (p.Gly388=)
c.1227C= (p.Gly409=)
n.176C=
c.216C= (p.Gly72=)
c.1161C= (p.Gly387=)
c.1113C= (p.Gly371=)
n.544C=
c.153C= (p.Gly51=)
c.24C= (p.Gly8=)
7g.44145586G>TCA454863208GCKc.*1162C>A (n.*1162C>A)
c.*284C>A (n.*284C>A)
n.390C>A
c.198C>A (p.Gly66=)
c.1167C>A (p.Gly389=)
c.1164C>A (p.Gly388=)
c.1227C>A (p.Gly409=)
n.176C>A
c.216C>A (p.Gly72=)
c.1161C>A (p.Gly387=)
c.1113C>A (p.Gly371=)
n.544C>A
c.153C>A (p.Gly51=)
c.24C>A (p.Gly8=)
 gnomAD v4
7g.44145587C>ACA367398674GCKc.*1161G>T (n.*1161G>T)
c.*283G>T (n.*283G>T)
n.389G>T
c.197G>T (p.Gly66Val)
c.1166G>T (p.Gly389Val)
c.1163G>T (p.Gly388Val)
c.1226G>T (p.Gly409Val)
n.175G>T
c.215G>T (p.Gly72Val)
c.1160G>T (p.Gly387Val)
c.1112G>T (p.Gly371Val)
n.543G>T
c.152G>T (p.Gly51Val)
c.23G>T (p.Gly8Val)
 gnomAD v4
7g.44145587C=CA1703612892GCKc.*1161G= (n.*1161G=)
c.*283G= (n.*283G=)
n.389G=
c.197G= (p.Gly66=)
c.1166G= (p.Gly389=)
c.1163G= (p.Gly388=)
c.1226G= (p.Gly409=)
n.175G=
c.215G= (p.Gly72=)
c.1160G= (p.Gly387=)
c.1112G= (p.Gly371=)
n.543G=
c.152G= (p.Gly51=)
c.23G= (p.Gly8=)
7g.44145587C>GCA367398673GCKc.*1161G>C (n.*1161G>C)
c.*283G>C (n.*283G>C)
n.389G>C
c.197G>C (p.Gly66Ala)
c.1166G>C (p.Gly389Ala)
c.1163G>C (p.Gly388Ala)
c.1226G>C (p.Gly409Ala)
n.175G>C
c.215G>C (p.Gly72Ala)
c.1160G>C (p.Gly387Ala)
c.1112G>C (p.Gly371Ala)
n.543G>C
c.152G>C (p.Gly51Ala)
c.23G>C (p.Gly8Ala)
 gnomAD v4
7g.44145587C>TCA367398670GCKc.*1161G>A (n.*1161G>A)
c.*283G>A (n.*283G>A)
n.389G>A
c.197G>A (p.Gly66Asp)
c.1166G>A (p.Gly389Asp)
c.1163G>A (p.Gly388Asp)
c.1226G>A (p.Gly409Asp)
n.175G>A
c.215G>A (p.Gly72Asp)
c.1160G>A (p.Gly387Asp)
c.1112G>A (p.Gly371Asp)
n.543G>A
c.152G>A (p.Gly51Asp)
c.23G>A (p.Gly8Asp)
 ClinVar dbSNP
7g.44145589dupCA10603030GCKc.*1161dup (n.*1161dup)
c.*283dup (n.*283dup)
n.389dup
c.197dup (p.Val67ArgfsTer?)
c.1166dup (p.Val390ArgfsTer?)
c.1163dup (p.Val389ArgfsTer?)
c.1226dup (p.Val410ArgfsTer?)
n.175dup
c.215dup (p.Val73ArgfsTer?)
c.1160dup (p.Val388ArgfsTer?)
c.1112dup (p.Val372ArgfsTer?)
n.543dup
c.152dup (p.Val52ArgfsTer?)
c.23dup (p.Val9ArgfsTer?)
 ClinVar dbSNP
7g.44145588C>ACA367398677GCKc.*1160G>T (n.*1160G>T)
c.*282G>T (n.*282G>T)
n.388G>T
c.196G>T (p.Gly66Cys)
c.1165G>T (p.Gly389Cys)
c.1162G>T (p.Gly388Cys)
c.1225G>T (p.Gly409Cys)
n.174G>T
c.214G>T (p.Gly72Cys)
c.1159G>T (p.Gly387Cys)
c.1111G>T (p.Gly371Cys)
n.542G>T
c.151G>T (p.Gly51Cys)
c.22G>T (p.Gly8Cys)
7g.44145588C>GCA367398680GCKc.*1160G>C (n.*1160G>C)
c.*282G>C (n.*282G>C)
n.388G>C
c.196G>C (p.Gly66Arg)
c.1165G>C (p.Gly389Arg)
c.1162G>C (p.Gly388Arg)
c.1225G>C (p.Gly409Arg)
n.174G>C
c.214G>C (p.Gly72Arg)
c.1159G>C (p.Gly387Arg)
c.1111G>C (p.Gly371Arg)
n.542G>C
c.151G>C (p.Gly51Arg)
c.22G>C (p.Gly8Arg)
7g.44145588C>TCA367398683GCKc.*1160G>A (n.*1160G>A)
c.*282G>A (n.*282G>A)
n.388G>A
c.196G>A (p.Gly66Ser)
c.1165G>A (p.Gly389Ser)
c.1162G>A (p.Gly388Ser)
c.1225G>A (p.Gly409Ser)
n.174G>A
c.214G>A (p.Gly72Ser)
c.1159G>A (p.Gly387Ser)
c.1111G>A (p.Gly371Ser)
n.542G>A
c.151G>A (p.Gly51Ser)
c.22G>A (p.Gly8Ser)
7g.44145589C>ACA454863212GCKc.*1159G>T (n.*1159G>T)
c.*281G>T (n.*281G>T)
n.387G>T
c.195G>T (p.Ala65=)
c.1164G>T (p.Ala388=)
c.1161G>T (p.Ala387=)
c.1224G>T (p.Ala408=)
n.173G>T
c.213G>T (p.Ala71=)
c.1158G>T (p.Ala386=)
c.1110G>T (p.Ala370=)
n.541G>T
c.150G>T (p.Ala50=)
c.21G>T (p.Ala7=)
 dbSNP gnomAD v4
7g.44145589C=CA1703612893GCKc.*1159G= (n.*1159G=)
c.*281G= (n.*281G=)
n.387G=
c.195G= (p.Ala65=)
c.1164G= (p.Ala388=)
c.1161G= (p.Ala387=)
c.1224G= (p.Ala408=)
n.173G=
c.213G= (p.Ala71=)
c.1158G= (p.Ala386=)
c.1110G= (p.Ala370=)
n.541G=
c.150G= (p.Ala50=)
c.21G= (p.Ala7=)
7g.44145589C>GCA454863213GCKc.*1159G>C (n.*1159G>C)
c.*281G>C (n.*281G>C)
n.387G>C
c.195G>C (p.Ala65=)
c.1164G>C (p.Ala388=)
c.1161G>C (p.Ala387=)
c.1224G>C (p.Ala408=)
n.173G>C
c.213G>C (p.Ala71=)
c.1158G>C (p.Ala386=)
c.1110G>C (p.Ala370=)
n.541G>C
c.150G>C (p.Ala50=)
c.21G>C (p.Ala7=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.44145589C>TCA4239421GCKc.*1159G>A (n.*1159G>A)
c.*281G>A (n.*281G>A)
n.387G>A
c.195G>A (p.Ala65=)
c.1164G>A (p.Ala388=)
c.1161G>A (p.Ala387=)
c.1224G>A (p.Ala408=)
n.173G>A
c.213G>A (p.Ala71=)
c.1158G>A (p.Ala386=)
c.1110G>A (p.Ala370=)
n.541G>A
c.150G>A (p.Ala50=)
c.21G>A (p.Ala7=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.44145590G>ACA213727GCKc.*1158C>T (n.*1158C>T)
c.*280C>T (n.*280C>T)
n.386C>T
c.194C>T (p.Ala65Val)
c.1163C>T (p.Ala388Val)
c.1160C>T (p.Ala387Val)
c.1223C>T (p.Ala408Val)
n.172C>T
c.212C>T (p.Ala71Val)
c.1157C>T (p.Ala386Val)
c.1109C>T (p.Ala370Val)
n.540C>T
c.149C>T (p.Ala50Val)
c.20C>T (p.Ala7Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.44145590G>CCA367398687GCKc.*1158C>G (n.*1158C>G)
c.*280C>G (n.*280C>G)
n.386C>G
c.194C>G (p.Ala65Gly)
c.1163C>G (p.Ala388Gly)
c.1160C>G (p.Ala387Gly)
c.1223C>G (p.Ala408Gly)
n.172C>G
c.212C>G (p.Ala71Gly)
c.1157C>G (p.Ala386Gly)
c.1109C>G (p.Ala370Gly)
n.540C>G
c.149C>G (p.Ala50Gly)
c.20C>G (p.Ala7Gly)
 gnomAD v4
7g.44145590G=CA1703612894GCKc.*1158C= (n.*1158C=)
c.*280C= (n.*280C=)
n.386C=
c.194C= (p.Ala65=)
c.1163C= (p.Ala388=)
c.1160C= (p.Ala387=)
c.1223C= (p.Ala408=)
n.172C=
c.212C= (p.Ala71=)
c.1157C= (p.Ala386=)
c.1109C= (p.Ala370=)
n.540C=
c.149C= (p.Ala50=)
c.20C= (p.Ala7=)
7g.44145590G>TCA213725GCKc.*1158C>A (n.*1158C>A)
c.*280C>A (n.*280C>A)
n.386C>A
c.194C>A (p.Ala65Glu)
c.1163C>A (p.Ala388Glu)
c.1160C>A (p.Ala387Glu)
c.1223C>A (p.Ala408Glu)
n.172C>A
c.212C>A (p.Ala71Glu)
c.1157C>A (p.Ala386Glu)
c.1109C>A (p.Ala370Glu)
n.540C>A
c.149C>A (p.Ala50Glu)
c.20C>A (p.Ala7Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.44145591C>ACA367398692GCKc.*1157G>T (n.*1157G>T)
c.*279G>T (n.*279G>T)
n.385G>T
c.193G>T (p.Ala65Ser)
c.1162G>T (p.Ala388Ser)
c.1159G>T (p.Ala387Ser)
c.1222G>T (p.Ala408Ser)
n.171G>T
c.211G>T (p.Ala71Ser)
c.1156G>T (p.Ala386Ser)
c.1108G>T (p.Ala370Ser)
n.539G>T
c.148G>T (p.Ala50Ser)
c.19G>T (p.Ala7Ser)
7g.44145591C=CA1703612895GCKc.*1157G= (n.*1157G=)
c.*279G= (n.*279G=)
n.385G=
c.193G= (p.Ala65=)
c.1162G= (p.Ala388=)
c.1159G= (p.Ala387=)
c.1222G= (p.Ala408=)
n.171G=
c.211G= (p.Ala71=)
c.1156G= (p.Ala386=)
c.1108G= (p.Ala370=)
n.539G=
c.148G= (p.Ala50=)
c.19G= (p.Ala7=)
7g.44145591C>GCA367398693GCKc.*1157G>C (n.*1157G>C)
c.*279G>C (n.*279G>C)
n.385G>C
c.193G>C (p.Ala65Pro)
c.1162G>C (p.Ala388Pro)
c.1159G>C (p.Ala387Pro)
c.1222G>C (p.Ala408Pro)
n.171G>C
c.211G>C (p.Ala71Pro)
c.1156G>C (p.Ala386Pro)
c.1108G>C (p.Ala370Pro)
n.539G>C
c.148G>C (p.Ala50Pro)
c.19G>C (p.Ala7Pro)
7g.44145591C>TCA367398695GCKc.*1157G>A (n.*1157G>A)
c.*279G>A (n.*279G>A)
n.385G>A
c.193G>A (p.Ala65Thr)
c.1162G>A (p.Ala388Thr)
c.1159G>A (p.Ala387Thr)
c.1222G>A (p.Ala408Thr)
n.171G>A
c.211G>A (p.Ala71Thr)
c.1156G>A (p.Ala386Thr)
c.1108G>A (p.Ala370Thr)
n.539G>A
c.148G>A (p.Ala50Thr)
c.19G>A (p.Ala7Thr)
 ClinVar dbSNP
7g.44145592C>ACA454863217GCKc.*1156G>T (n.*1156G>T)
c.*278G>T (n.*278G>T)
n.384G>T
c.192G>T (p.Leu64=)
c.1161G>T (p.Leu387=)
c.1158G>T (p.Leu386=)
c.1221G>T (p.Leu407=)
n.170G>T
c.210G>T (p.Leu70=)
c.1155G>T (p.Leu385=)
c.1107G>T (p.Leu369=)
n.538G>T
c.147G>T (p.Leu49=)
c.18G>T (p.Leu6=)
 dbSNP
7g.44145592C=CA1703612896GCKc.*1156G= (n.*1156G=)
c.*278G= (n.*278G=)
n.384G=
c.192G= (p.Leu64=)
c.1161G= (p.Leu387=)
c.1158G= (p.Leu386=)
c.1221G= (p.Leu407=)
n.170G=
c.210G= (p.Leu70=)
c.1155G= (p.Leu385=)
c.1107G= (p.Leu369=)
n.538G=
c.147G= (p.Leu49=)
c.18G= (p.Leu6=)
7g.44145592C>GCA454863218GCKc.*1156G>C (n.*1156G>C)
c.*278G>C (n.*278G>C)
n.384G>C
c.192G>C (p.Leu64=)
c.1161G>C (p.Leu387=)
c.1158G>C (p.Leu386=)
c.1221G>C (p.Leu407=)
n.170G>C
c.210G>C (p.Leu70=)
c.1155G>C (p.Leu385=)
c.1107G>C (p.Leu369=)
n.538G>C
c.147G>C (p.Leu49=)
c.18G>C (p.Leu6=)
7g.44145592C>TCA454863219GCKc.*1156G>A (n.*1156G>A)
c.*278G>A (n.*278G>A)
n.384G>A
c.192G>A (p.Leu64=)
c.1161G>A (p.Leu387=)
c.1158G>A (p.Leu386=)
c.1221G>A (p.Leu407=)
n.170G>A
c.210G>A (p.Leu70=)
c.1155G>A (p.Leu385=)
c.1107G>A (p.Leu369=)
n.538G>A
c.147G>A (p.Leu49=)
c.18G>A (p.Leu6=)
 dbSNP gnomAD v2
7g.44145593A=CA1703612897GCKc.*1155T= (n.*1155T=)
c.*277T= (n.*277T=)
n.383T=
c.191T= (p.Leu64=)
c.1160T= (p.Leu387=)
c.1157T= (p.Leu386=)
c.1220T= (p.Leu407=)
n.169T=
c.209T= (p.Leu70=)
c.1154T= (p.Leu385=)
c.1106T= (p.Leu369=)
n.537T=
c.146T= (p.Leu49=)
c.17T= (p.Leu6=)
7g.44145593A>CCA367398699GCKc.*1155T>G (n.*1155T>G)
c.*277T>G (n.*277T>G)
n.383T>G
c.191T>G (p.Leu64Arg)
c.1160T>G (p.Leu387Arg)
c.1157T>G (p.Leu386Arg)
c.1220T>G (p.Leu407Arg)
n.169T>G
c.209T>G (p.Leu70Arg)
c.1154T>G (p.Leu385Arg)
c.1106T>G (p.Leu369Arg)
n.537T>G
c.146T>G (p.Leu49Arg)
c.17T>G (p.Leu6Arg)
 ClinVar
7g.44145593A>GCA213723GCKc.*1155T>C (n.*1155T>C)
c.*277T>C (n.*277T>C)
n.383T>C
c.191T>C (p.Leu64Pro)
c.1160T>C (p.Leu387Pro)
c.1157T>C (p.Leu386Pro)
c.1220T>C (p.Leu407Pro)
n.169T>C
c.209T>C (p.Leu70Pro)
c.1154T>C (p.Leu385Pro)
c.1106T>C (p.Leu369Pro)
n.537T>C
c.146T>C (p.Leu49Pro)
c.17T>C (p.Leu6Pro)
 ClinVar dbSNP gnomAD v4
7g.44145593A>TCA367398702GCKc.*1155T>A (n.*1155T>A)
c.*277T>A (n.*277T>A)
n.383T>A
c.191T>A (p.Leu64Gln)
c.1160T>A (p.Leu387Gln)
c.1157T>A (p.Leu386Gln)
c.1220T>A (p.Leu407Gln)
n.169T>A
c.209T>A (p.Leu70Gln)
c.1154T>A (p.Leu385Gln)
c.1106T>A (p.Leu369Gln)
n.537T>A
c.146T>A (p.Leu49Gln)
c.17T>A (p.Leu6Gln)
7g.44145594delCA2580077148GCKc.*1154del (n.*1154del)
c.*276del (n.*276del)
n.382del
c.190del (p.Leu64TrpfsTer16)
c.1159del (p.Leu387TrpfsTer16)
c.1156del (p.Leu386TrpfsTer16)
c.1219del (p.Leu407TrpfsTer16)
n.168del
c.208del (p.Leu70TrpfsTer16)
c.1153del (p.Leu385TrpfsTer16)
c.1105del (p.Leu369TrpfsTer16)
n.536del
c.145del (p.Leu49TrpfsTer16)
c.16del (p.Leu6TrpfsTer16)
 ClinVar
7g.44145594G>ACA454863220GCKc.*1154C>T (n.*1154C>T)
c.*276C>T (n.*276C>T)
n.382C>T
c.190C>T (p.Leu64=)
c.1159C>T (p.Leu387=)
c.1156C>T (p.Leu386=)
c.1219C>T (p.Leu407=)
n.168C>T
c.208C>T (p.Leu70=)
c.1153C>T (p.Leu385=)
c.1105C>T (p.Leu369=)
n.536C>T
c.145C>T (p.Leu49=)
c.16C>T (p.Leu6=)
7g.44145594G>CCA367398705GCKc.*1154C>G (n.*1154C>G)
c.*276C>G (n.*276C>G)
n.382C>G
c.190C>G (p.Leu64Val)
c.1159C>G (p.Leu387Val)
c.1156C>G (p.Leu386Val)
c.1219C>G (p.Leu407Val)
n.168C>G
c.208C>G (p.Leu70Val)
c.1153C>G (p.Leu385Val)
c.1105C>G (p.Leu369Val)
n.536C>G
c.145C>G (p.Leu49Val)
c.16C>G (p.Leu6Val)
 ClinVar dbSNP gnomAD v4
7g.44145594G=CA1703612899GCKc.*1154C= (n.*1154C=)
c.*276C= (n.*276C=)
n.382C=
c.190C= (p.Leu64=)
c.1159C= (p.Leu387=)
c.1156C= (p.Leu386=)
c.1219C= (p.Leu407=)
n.168C=
c.208C= (p.Leu70=)
c.1153C= (p.Leu385=)
c.1105C= (p.Leu369=)
n.536C=
c.145C= (p.Leu49=)
c.16C= (p.Leu6=)
7g.44145594G>TCA367398708GCKc.*1154C>A (n.*1154C>A)
c.*276C>A (n.*276C>A)
n.382C>A
c.190C>A (p.Leu64Met)
c.1159C>A (p.Leu387Met)
c.1156C>A (p.Leu386Met)
c.1219C>A (p.Leu407Met)
n.168C>A
c.208C>A (p.Leu70Met)
c.1153C>A (p.Leu385Met)
c.1105C>A (p.Leu369Met)
n.536C>A
c.145C>A (p.Leu49Met)
c.16C>A (p.Leu6Met)
 gnomAD v4
7g.44145594_44145595delinsGCCA1703612898GCKc.*1153_*1154delinsGC (n.*1153_*1154delinsGC)
c.*275_*276delinsGC (n.*275_*276delinsGC)
n.381_382delinsGC
c.189_190delinsGC (p.Gly63=)
c.1158_1159delinsGC (p.Gly386=)
c.1155_1156delinsGC (p.Gly385=)
c.1218_1219delinsGC (p.Gly406=)
n.167_168delinsGC
c.207_208delinsGC (p.Gly69=)
c.1152_1153delinsGC (p.Gly384=)
c.1104_1105delinsGC (p.Gly368=)
n.535_536delinsGC
c.144_145delinsGC (p.Gly48=)
c.15_16delinsGC (p.Gly5=)
7g.44145595C>ACA454863221GCKc.*1153G>T (n.*1153G>T)
c.*275G>T (n.*275G>T)
n.381G>T
c.189G>T (p.Gly63=)
c.1158G>T (p.Gly386=)
c.1155G>T (p.Gly385=)
c.1218G>T (p.Gly406=)
n.167G>T
c.207G>T (p.Gly69=)
c.1152G>T (p.Gly384=)
c.1104G>T (p.Gly368=)
n.535G>T
c.144G>T (p.Gly48=)
c.15G>T (p.Gly5=)
7g.44145595C=CA1703612900GCKc.*1153G= (n.*1153G=)
c.*275G= (n.*275G=)
n.381G=
c.189G= (p.Gly63=)
c.1158G= (p.Gly386=)
c.1155G= (p.Gly385=)
c.1218G= (p.Gly406=)
n.167G=
c.207G= (p.Gly69=)
c.1152G= (p.Gly384=)
c.1104G= (p.Gly368=)
n.535G=
c.144G= (p.Gly48=)
c.15G= (p.Gly5=)
7g.44145595C>GCA454863223GCKc.*1153G>C (n.*1153G>C)
c.*275G>C (n.*275G>C)
n.381G>C
c.189G>C (p.Gly63=)
c.1158G>C (p.Gly386=)
c.1155G>C (p.Gly385=)
c.1218G>C (p.Gly406=)
n.167G>C
c.207G>C (p.Gly69=)
c.1152G>C (p.Gly384=)
c.1104G>C (p.Gly368=)
n.535G>C
c.144G>C (p.Gly48=)
c.15G>C (p.Gly5=)
7g.44145595C>TCA454863224GCKc.*1153G>A (n.*1153G>A)
c.*275G>A (n.*275G>A)
n.381G>A
c.189G>A (p.Gly63=)
c.1158G>A (p.Gly386=)
c.1155G>A (p.Gly385=)
c.1218G>A (p.Gly406=)
n.167G>A
c.207G>A (p.Gly69=)
c.1152G>A (p.Gly384=)
c.1104G>A (p.Gly368=)
n.535G>A
c.144G>A (p.Gly48=)
c.15G>A (p.Gly5=)
 dbSNP gnomAD v3 gnomAD v4
7g.44145598dupCA658655961GCKc.*1153dup (n.*1153dup)
c.*275dup (n.*275dup)
n.381dup
c.189dup (p.Leu64AlafsTer?)
c.1158dup (p.Leu387AlafsTer?)
c.1155dup (p.Leu386AlafsTer?)
c.1218dup (p.Leu407AlafsTer?)
n.167dup
c.207dup (p.Leu70AlafsTer?)
c.1152dup (p.Leu385AlafsTer?)
c.1104dup (p.Leu369AlafsTer?)
n.535dup
c.144dup (p.Leu49AlafsTer?)
c.15dup (p.Leu6AlafsTer?)
 ClinVar dbSNP
7g.44145598delCA574226173GCKc.*1153del (n.*1153del)
c.*275del (n.*275del)
n.381del
c.189del (p.Leu64TrpfsTer16)
c.1158del (p.Leu387TrpfsTer16)
c.1155del (p.Leu386TrpfsTer16)
c.1218del (p.Leu407TrpfsTer16)
n.167del
c.207del (p.Leu70TrpfsTer16)
c.1152del (p.Leu385TrpfsTer16)
c.1104del (p.Leu369TrpfsTer16)
n.535del
c.144del (p.Leu49TrpfsTer16)
c.15del (p.Leu6TrpfsTer16)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.44145596C>ACA367398710GCKc.*1152G>T (n.*1152G>T)
c.*274G>T (n.*274G>T)
n.380G>T
c.188G>T (p.Gly63Val)
c.1157G>T (p.Gly386Val)
c.1154G>T (p.Gly385Val)
c.1217G>T (p.Gly406Val)
n.166G>T
c.206G>T (p.Gly69Val)
c.1151G>T (p.Gly384Val)
c.1103G>T (p.Gly368Val)
n.534G>T
c.143G>T (p.Gly48Val)
c.14G>T (p.Gly5Val)
7g.44145596C=CA1703612901GCKc.*1152G= (n.*1152G=)
c.*274G= (n.*274G=)
n.380G=
c.188G= (p.Gly63=)
c.1157G= (p.Gly386=)
c.1154G= (p.Gly385=)
c.1217G= (p.Gly406=)
n.166G=
c.206G= (p.Gly69=)
c.1151G= (p.Gly384=)
c.1103G= (p.Gly368=)
n.534G=
c.143G= (p.Gly48=)
c.14G= (p.Gly5=)
7g.44145596C>GCA367398711GCKc.*1152G>C (n.*1152G>C)
c.*274G>C (n.*274G>C)
n.380G>C
c.188G>C (p.Gly63Ala)
c.1157G>C (p.Gly386Ala)
c.1154G>C (p.Gly385Ala)
c.1217G>C (p.Gly406Ala)
n.166G>C
c.206G>C (p.Gly69Ala)
c.1151G>C (p.Gly384Ala)
c.1103G>C (p.Gly368Ala)
n.534G>C
c.143G>C (p.Gly48Ala)
c.14G>C (p.Gly5Ala)
7g.44145596C>TCA367398712GCKc.*1152G>A (n.*1152G>A)
c.*274G>A (n.*274G>A)
n.380G>A
c.188G>A (p.Gly63Glu)
c.1157G>A (p.Gly386Glu)
c.1154G>A (p.Gly385Glu)
c.1217G>A (p.Gly406Glu)
n.166G>A
c.206G>A (p.Gly69Glu)
c.1151G>A (p.Gly384Glu)
c.1103G>A (p.Gly368Glu)
n.534G>A
c.143G>A (p.Gly48Glu)
c.14G>A (p.Gly5Glu)
 ClinVar dbSNP
7g.44145596_44145615delinsGTTGATGAGCA1139532694GCKc.*1133_*1152delinsCTCATCAAC (n.*1133_*1152delinsCTCATCAAC)
c.*255_*274delinsCTCATCAAC (n.*255_*274delinsCTCATCAAC)
n.361_380delinsCTCATCAAC
c.169_188delinsCTCATCAAC (p.Ala57LeufsTer?)
c.1138_1157delinsCTCATCAAC (p.Ala380LeufsTer?)
c.1135_1154delinsCTCATCAAC (p.Ala379LeufsTer?)
c.1198_1217delinsCTCATCAAC (p.Ala400LeufsTer?)
n.147_166delinsCTCATCAAC
c.187_206delinsCTCATCAAC (p.Ala63LeufsTer?)
c.1132_1151delinsCTCATCAAC (p.Ala378LeufsTer?)
c.1084_1103delinsCTCATCAAC (p.Ala362LeufsTer?)
n.515_534delinsCTCATCAAC
c.124_143delinsCTCATCAAC (p.Ala42LeufsTer?)
c.-6_14delinsCTCATCAAC
7g.44145597C>ACA367398715GCKc.*1151G>T (n.*1151G>T)
c.*273G>T (n.*273G>T)
n.379G>T
c.187G>T (p.Gly63Trp)
c.1156G>T (p.Gly386Trp)
c.1153G>T (p.Gly385Trp)
c.1216G>T (p.Gly406Trp)
n.165G>T
c.205G>T (p.Gly69Trp)
c.1150G>T (p.Gly384Trp)
c.1102G>T (p.Gly368Trp)
n.533G>T
c.142G>T (p.Gly48Trp)
c.13G>T (p.Gly5Trp)
7g.44145597C=CA1703612902GCKc.*1151G= (n.*1151G=)
c.*273G= (n.*273G=)
n.379G=
c.187G= (p.Gly63=)
c.1156G= (p.Gly386=)
c.1153G= (p.Gly385=)
c.1216G= (p.Gly406=)
n.165G=
c.205G= (p.Gly69=)
c.1150G= (p.Gly384=)
c.1102G= (p.Gly368=)
n.533G=
c.142G= (p.Gly48=)
c.13G= (p.Gly5=)
7g.44145597C>GCA367398717GCKc.*1151G>C (n.*1151G>C)
c.*273G>C (n.*273G>C)
n.379G>C
c.187G>C (p.Gly63Arg)
c.1156G>C (p.Gly386Arg)
c.1153G>C (p.Gly385Arg)
c.1216G>C (p.Gly406Arg)
n.165G>C
c.205G>C (p.Gly69Arg)
c.1150G>C (p.Gly384Arg)
c.1102G>C (p.Gly368Arg)
n.533G>C
c.142G>C (p.Gly48Arg)
c.13G>C (p.Gly5Arg)
 ClinVar
7g.44145597C>TCA213721GCKc.*1151G>A (n.*1151G>A)
c.*273G>A (n.*273G>A)
n.379G>A
c.187G>A (p.Gly63Arg)
c.1156G>A (p.Gly386Arg)
c.1153G>A (p.Gly385Arg)
c.1216G>A (p.Gly406Arg)
n.165G>A
c.205G>A (p.Gly69Arg)
c.1150G>A (p.Gly384Arg)
c.1102G>A (p.Gly368Arg)
n.533G>A
c.142G>A (p.Gly48Arg)
c.13G>A (p.Gly5Arg)
 ClinVar dbSNP gnomAD v4
7g.44145598C>ACA454863227GCKc.*1150G>T (n.*1150G>T)
c.*272G>T (n.*272G>T)
n.378G>T
c.186G>T (p.Ala62=)
c.1155G>T (p.Ala385=)
c.1152G>T (p.Ala384=)
c.1215G>T (p.Ala405=)
n.164G>T
c.204G>T (p.Ala68=)
c.1149G>T (p.Ala383=)
c.1101G>T (p.Ala367=)
n.532G>T
c.141G>T (p.Ala47=)
c.12G>T (p.Ala4=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.44145598C=CA1703612903GCKc.*1150G= (n.*1150G=)
c.*272G= (n.*272G=)
n.378G=
c.186G= (p.Ala62=)
c.1155G= (p.Ala385=)
c.1152G= (p.Ala384=)
c.1215G= (p.Ala405=)
n.164G=
c.204G= (p.Ala68=)
c.1149G= (p.Ala383=)
c.1101G= (p.Ala367=)
n.532G=
c.141G= (p.Ala47=)
c.12G= (p.Ala4=)
7g.44145598C>GCA454863228GCKc.*1150G>C (n.*1150G>C)
c.*272G>C (n.*272G>C)
n.378G>C
c.186G>C (p.Ala62=)
c.1155G>C (p.Ala385=)
c.1152G>C (p.Ala384=)
c.1215G>C (p.Ala405=)
n.164G>C
c.204G>C (p.Ala68=)
c.1149G>C (p.Ala383=)
c.1101G>C (p.Ala367=)
n.532G>C
c.141G>C (p.Ala47=)
c.12G>C (p.Ala4=)
 gnomAD v4
7g.44145598C>TCA4239422GCKc.*1150G>A (n.*1150G>A)
c.*272G>A (n.*272G>A)
n.378G>A
c.186G>A (p.Ala62=)
c.1155G>A (p.Ala385=)
c.1152G>A (p.Ala384=)
c.1215G>A (p.Ala405=)
n.164G>A
c.204G>A (p.Ala68=)
c.1149G>A (p.Ala383=)
c.1101G>A (p.Ala367=)
n.532G>A
c.141G>A (p.Ala47=)
c.12G>A (p.Ala4=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.44145599G>ACA367398721GCKc.*1149C>T (n.*1149C>T)
c.*271C>T (n.*271C>T)
n.377C>T
c.185C>T (p.Ala62Val)
c.1154C>T (p.Ala385Val)
c.1151C>T (p.Ala384Val)
c.1214C>T (p.Ala405Val)
n.163C>T
c.203C>T (p.Ala68Val)
c.1148C>T (p.Ala383Val)
c.1100C>T (p.Ala367Val)
n.531C>T
c.140C>T (p.Ala47Val)
c.11C>T (p.Ala4Val)
 ClinVar dbSNP gnomAD v4
7g.44145599G>CCA367398723GCKc.*1149C>G (n.*1149C>G)
c.*271C>G (n.*271C>G)
n.377C>G
c.185C>G (p.Ala62Gly)
c.1154C>G (p.Ala385Gly)
c.1151C>G (p.Ala384Gly)
c.1214C>G (p.Ala405Gly)
n.163C>G
c.203C>G (p.Ala68Gly)
c.1148C>G (p.Ala383Gly)
c.1100C>G (p.Ala367Gly)
n.531C>G
c.140C>G (p.Ala47Gly)
c.11C>G (p.Ala4Gly)
7g.44145599G=CA1703612904GCKc.*1149C= (n.*1149C=)
c.*271C= (n.*271C=)
n.377C=
c.185C= (p.Ala62=)
c.1154C= (p.Ala385=)
c.1151C= (p.Ala384=)
c.1214C= (p.Ala405=)
n.163C=
c.203C= (p.Ala68=)
c.1148C= (p.Ala383=)
c.1100C= (p.Ala367=)
n.531C=
c.140C= (p.Ala47=)
c.11C= (p.Ala4=)
7g.44145599G>TCA367398725GCKc.*1149C>A (n.*1149C>A)
c.*271C>A (n.*271C>A)
n.377C>A
c.185C>A (p.Ala62Glu)
c.1154C>A (p.Ala385Glu)
c.1151C>A (p.Ala384Glu)
c.1214C>A (p.Ala405Glu)
n.163C>A
c.203C>A (p.Ala68Glu)
c.1148C>A (p.Ala383Glu)
c.1100C>A (p.Ala367Glu)
n.531C>A
c.140C>A (p.Ala47Glu)
c.11C>A (p.Ala4Glu)
 ClinVar dbSNP gnomAD v4
7g.44145601_44145618delCA2695203012GCKc.*1132_*1149del (n.*1132_*1149del)
c.*254_*271del (n.*254_*271del)
n.360_377del
c.168_185del (p.Ala57_Ala62del)
c.1137_1154del (p.Ala380_Ala385del)
c.1134_1151del (p.Ala379_Ala384del)
c.1197_1214del (p.Ala400_Ala405del)
n.146_163del
c.186_203del (p.Ala63_Ala68del)
c.1131_1148del (p.Ala378_Ala383del)
c.1083_1100del (p.Ala362_Ala367del)
n.514_531del
c.123_140del (p.Ala42_Ala47del)
c.-7_11del
7g.44145600C>ACA367398727GCKc.*1148G>T (n.*1148G>T)
c.*270G>T (n.*270G>T)
n.376G>T
c.184G>T (p.Ala62Ser)
c.1153G>T (p.Ala385Ser)
c.1150G>T (p.Ala384Ser)
c.1213G>T (p.Ala405Ser)
n.162G>T
c.202G>T (p.Ala68Ser)
c.1147G>T (p.Ala383Ser)
c.1099G>T (p.Ala367Ser)
n.530G>T
c.139G>T (p.Ala47Ser)
c.10G>T (p.Ala4Ser)
 gnomAD v4
7g.44145600C=CA1703612906GCKc.*1148G= (n.*1148G=)
c.*270G= (n.*270G=)
n.376G=
c.184G= (p.Ala62=)
c.1153G= (p.Ala385=)
c.1150G= (p.Ala384=)
c.1213G= (p.Ala405=)
n.162G=
c.202G= (p.Ala68=)
c.1147G= (p.Ala383=)
c.1099G= (p.Ala367=)
n.530G=
c.139G= (p.Ala47=)
c.10G= (p.Ala4=)
7g.44145600C>GCA367398729GCKc.*1148G>C (n.*1148G>C)
c.*270G>C (n.*270G>C)
n.376G>C
c.184G>C (p.Ala62Pro)
c.1153G>C (p.Ala385Pro)
c.1150G>C (p.Ala384Pro)
c.1213G>C (p.Ala405Pro)
n.162G>C
c.202G>C (p.Ala68Pro)
c.1147G>C (p.Ala383Pro)
c.1099G>C (p.Ala367Pro)
n.530G>C
c.139G>C (p.Ala47Pro)
c.10G>C (p.Ala4Pro)
 ClinVar dbSNP
7g.44145600C>TCA367398732GCKc.*1148G>A (n.*1148G>A)
c.*270G>A (n.*270G>A)
n.376G>A
c.184G>A (p.Ala62Thr)
c.1153G>A (p.Ala385Thr)
c.1150G>A (p.Ala384Thr)
c.1213G>A (p.Ala405Thr)
n.162G>A
c.202G>A (p.Ala68Thr)
c.1147G>A (p.Ala383Thr)
c.1099G>A (p.Ala367Thr)
n.530G>A
c.139G>A (p.Ala47Thr)
c.10G>A (p.Ala4Thr)
 ClinVar dbSNP gnomAD v2
7g.44145600_44145617delinsCCGAGCACATGTGCGCAGCA1703612905GCKc.*1131_*1148delinsCTGCGCACATGTGCTCGG (n.*1131_*1148delinsCTGCGCACATGTGCTCGG)
c.*253_*270delinsCTGCGCACATGTGCTCGG (n.*253_*270delinsCTGCGCACATGTGCTCGG)
n.359_376delinsCTGCGCACATGTGCTCGG
c.167_184delinsCTGCGCACATGTGCTCGG (p.Ala56=)
c.1136_1153delinsCTGCGCACATGTGCTCGG (p.Ala379=)
c.1133_1150delinsCTGCGCACATGTGCTCGG (p.Ala378=)
c.1196_1213delinsCTGCGCACATGTGCTCGG (p.Ala399=)
n.145_162delinsCTGCGCACATGTGCTCGG
c.185_202delinsCTGCGCACATGTGCTCGG (p.Ala62=)
c.1130_1147delinsCTGCGCACATGTGCTCGG (p.Ala377=)
c.1082_1099delinsCTGCGCACATGTGCTCGG (p.Ala361=)
n.513_530delinsCTGCGCACATGTGCTCGG
c.122_139delinsCTGCGCACATGTGCTCGG (p.Ala41=)
c.-8_10delinsCTGCGCACATGTGCTCGG
7g.44145601C>ACA454863234GCKc.*1147G>T (n.*1147G>T)
c.*269G>T (n.*269G>T)
n.375G>T
c.183G>T (p.Ser61=)
c.1152G>T (p.Ser384=)
c.1149G>T (p.Ser383=)
c.1212G>T (p.Ser404=)
n.161G>T
c.201G>T (p.Ser67=)
c.1146G>T (p.Ser382=)
c.1098G>T (p.Ser366=)
n.529G>T
c.138G>T (p.Ser46=)
c.9G>T (p.Ser3=)
 gnomAD v4
7g.44145601C=CA1703612907GCKc.*1147G= (n.*1147G=)
c.*269G= (n.*269G=)
n.375G=
c.183G= (p.Ser61=)
c.1152G= (p.Ser384=)
c.1149G= (p.Ser383=)
c.1212G= (p.Ser404=)
n.161G=
c.201G= (p.Ser67=)
c.1146G= (p.Ser382=)
c.1098G= (p.Ser366=)
n.529G=
c.138G= (p.Ser46=)
c.9G= (p.Ser3=)
7g.44145601C>GCA454863232GCKc.*1147G>C (n.*1147G>C)
c.*269G>C (n.*269G>C)
n.375G>C
c.183G>C (p.Ser61=)
c.1152G>C (p.Ser384=)
c.1149G>C (p.Ser383=)
c.1212G>C (p.Ser404=)
n.161G>C
c.201G>C (p.Ser67=)
c.1146G>C (p.Ser382=)
c.1098G>C (p.Ser366=)
n.529G>C
c.138G>C (p.Ser46=)
c.9G>C (p.Ser3=)
7g.44145601C>TCA454863233GCKc.*1147G>A (n.*1147G>A)
c.*269G>A (n.*269G>A)
n.375G>A
c.183G>A (p.Ser61=)
c.1152G>A (p.Ser384=)
c.1149G>A (p.Ser383=)
c.1212G>A (p.Ser404=)
n.161G>A
c.201G>A (p.Ser67=)
c.1146G>A (p.Ser382=)
c.1098G>A (p.Ser366=)
n.529G>A
c.138G>A (p.Ser46=)
c.9G>A (p.Ser3=)
 dbSNP gnomAD v4
7g.44145601_44145602delinsCGCA1703612908GCKc.*1146_*1147delinsCG (n.*1146_*1147delinsCG)
c.*268_*269delinsCG (n.*268_*269delinsCG)
n.374_375delinsCG
c.182_183delinsCG (p.Ser61=)
c.1151_1152delinsCG (p.Ser384=)
c.1148_1149delinsCG (p.Ser383=)
c.1211_1212delinsCG (p.Ser404=)
n.160_161delinsCG
c.200_201delinsCG (p.Ser67=)
c.1145_1146delinsCG (p.Ser382=)
c.1097_1098delinsCG (p.Ser366=)
n.528_529delinsCG
c.137_138delinsCG (p.Ser46=)
c.8_9delinsCG (p.Ser3=)
7g.44145602_44145607dupCA2695203013GCKc.*1142_*1147dup (n.*1142_*1147dup)
c.*264_*269dup (n.*264_*269dup)
n.370_375dup
c.178_183dup (p.Ser61_Ala62insCysSer)
c.1147_1152dup (p.Ser384_Ala385insCysSer)
c.1144_1149dup (p.Ser383_Ala384insCysSer)
c.1207_1212dup (p.Ser404_Ala405insCysSer)
n.156_161dup
c.196_201dup (p.Ser67_Ala68insCysSer)
c.1141_1146dup (p.Ser382_Ala383insCysSer)
c.1093_1098dup (p.Ser366_Ala367insCysSer)
n.524_529dup
c.133_138dup (p.Ser46_Ala47insCysSer)
c.4_9dup (p.Ser3_Ala4insCysSer)
7g.44145603_44145619delCA658655962GCKc.*1131_*1147del (n.*1131_*1147del)
c.*253_*269del (n.*253_*269del)
n.359_375del
c.167_183del (p.Ala56GlyfsTer?)
c.1136_1152del (p.Ala379GlyfsTer?)
c.1133_1149del (p.Ala378GlyfsTer?)
c.1196_1212del (p.Ala399GlyfsTer?)
n.145_161del
c.185_201del (p.Ala62GlyfsTer?)
c.1130_1146del (p.Ala377GlyfsTer?)
c.1082_1098del (p.Ala361GlyfsTer?)
n.513_529del
c.122_138del (p.Ala41GlyfsTer?)
c.-8_9del
 ClinVar dbSNP
7g.44145602delCA1139660056GCKc.*1146del (n.*1146del)
c.*268del (n.*268del)
n.374del
c.182del (p.Ser61TrpfsTer19)
c.1151del (p.Ser384TrpfsTer19)
c.1148del (p.Ser383TrpfsTer19)
c.1211del (p.Ser404TrpfsTer19)
n.160del
c.200del (p.Ser67TrpfsTer19)
c.1145del (p.Ser382TrpfsTer19)
c.1097del (p.Ser366TrpfsTer19)
n.528del
c.137del (p.Ser46TrpfsTer19)
c.8del (p.Ser3TrpfsTer19)
 ClinVar dbSNP
7g.44145602G>ACA10581499GCKc.*1146C>T (n.*1146C>T)
c.*268C>T (n.*268C>T)
n.374C>T
c.182C>T (p.Ser61Leu)
c.1151C>T (p.Ser384Leu)
c.1148C>T (p.Ser383Leu)
c.1211C>T (p.Ser404Leu)
n.160C>T
c.200C>T (p.Ser67Leu)
c.1145C>T (p.Ser382Leu)
c.1097C>T (p.Ser366Leu)
n.528C>T
c.137C>T (p.Ser46Leu)
c.8C>T (p.Ser3Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.44145602G>CCA367398735GCKc.*1146C>G (n.*1146C>G)
c.*268C>G (n.*268C>G)
n.374C>G
c.182C>G (p.Ser61Trp)
c.1151C>G (p.Ser384Trp)
c.1148C>G (p.Ser383Trp)
c.1211C>G (p.Ser404Trp)
n.160C>G
c.200C>G (p.Ser67Trp)
c.1145C>G (p.Ser382Trp)
c.1097C>G (p.Ser366Trp)
n.528C>G
c.137C>G (p.Ser46Trp)
c.8C>G (p.Ser3Trp)
 ClinVar
7g.44145602G=CA1703612909GCKc.*1146C= (n.*1146C=)
c.*268C= (n.*268C=)
n.374C=
c.182C= (p.Ser61=)
c.1151C= (p.Ser384=)
c.1148C= (p.Ser383=)
c.1211C= (p.Ser404=)
n.160C=
c.200C= (p.Ser67=)
c.1145C= (p.Ser382=)
c.1097C= (p.Ser366=)
n.528C=
c.137C= (p.Ser46=)
c.8C= (p.Ser3=)
7g.44145602G>TCA4239423GCKc.*1146C>A (n.*1146C>A)
c.*268C>A (n.*268C>A)
n.374C>A
c.182C>A (p.Ser61Ter)
c.1151C>A (p.Ser384Ter)
c.1148C>A (p.Ser383Ter)
c.1211C>A (p.Ser404Ter)
n.160C>A
c.200C>A (p.Ser67Ter)
c.1145C>A (p.Ser382Ter)
c.1097C>A (p.Ser366Ter)
n.528C>A
c.137C>A (p.Ser46Ter)
c.8C>A (p.Ser3Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.44145603A=CA1703612910GCKc.*1145T= (n.*1145T=)
c.*267T= (n.*267T=)
n.373T=
c.181T= (p.Ser61=)
c.1150T= (p.Ser384=)
c.1147T= (p.Ser383=)
c.1210T= (p.Ser404=)
n.159T=
c.199T= (p.Ser67=)
c.1144T= (p.Ser382=)
c.1096T= (p.Ser366=)
n.527T=
c.136T= (p.Ser46=)
c.7T= (p.Ser3=)
7g.44145603A>CCA4239424GCKc.*1145T>G (n.*1145T>G)
c.*267T>G (n.*267T>G)
n.373T>G
c.181T>G (p.Ser61Ala)
c.1150T>G (p.Ser384Ala)
c.1147T>G (p.Ser383Ala)
c.1210T>G (p.Ser404Ala)
n.159T>G
c.199T>G (p.Ser67Ala)
c.1144T>G (p.Ser382Ala)
c.1096T>G (p.Ser366Ala)
n.527T>G
c.136T>G (p.Ser46Ala)
c.7T>G (p.Ser3Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.44145603A>GCA367398737GCKc.*1145T>C (n.*1145T>C)
c.*267T>C (n.*267T>C)
n.373T>C
c.181T>C (p.Ser61Pro)
c.1150T>C (p.Ser384Pro)
c.1147T>C (p.Ser383Pro)
c.1210T>C (p.Ser404Pro)
n.159T>C
c.199T>C (p.Ser67Pro)
c.1144T>C (p.Ser382Pro)
c.1096T>C (p.Ser366Pro)
n.527T>C
c.136T>C (p.Ser46Pro)
c.7T>C (p.Ser3Pro)
 ClinVar dbSNP
7g.44145603A>TCA367398738GCKc.*1145T>A (n.*1145T>A)
c.*267T>A (n.*267T>A)
n.373T>A
c.181T>A (p.Ser61Thr)
c.1150T>A (p.Ser384Thr)
c.1147T>A (p.Ser383Thr)
c.1210T>A (p.Ser404Thr)
n.159T>A
c.199T>A (p.Ser67Thr)
c.1144T>A (p.Ser382Thr)
c.1096T>A (p.Ser366Thr)
n.527T>A
c.136T>A (p.Ser46Thr)
c.7T>A (p.Ser3Thr)
 ClinVar
7g.44145604G>ACA454863238GCKc.*1144C>T (n.*1144C>T)
c.*266C>T (n.*266C>T)
n.372C>T
c.180C>T (p.Cys60=)
c.1149C>T (p.Cys383=)
c.1146C>T (p.Cys382=)
c.1209C>T (p.Cys403=)
n.158C>T
c.198C>T (p.Cys66=)
c.1143C>T (p.Cys381=)
c.1095C>T (p.Cys365=)
n.526C>T
c.135C>T (p.Cys45=)
c.6C>T (p.Cys2=)
 gnomAD v4
7g.44145604G>CCA367398740GCKc.*1144C>G (n.*1144C>G)
c.*266C>G (n.*266C>G)
n.372C>G
c.180C>G (p.Cys60Trp)
c.1149C>G (p.Cys383Trp)
c.1146C>G (p.Cys382Trp)
c.1209C>G (p.Cys403Trp)
n.158C>G
c.198C>G (p.Cys66Trp)
c.1143C>G (p.Cys381Trp)
c.1095C>G (p.Cys365Trp)
n.526C>G
c.135C>G (p.Cys45Trp)
c.6C>G (p.Cys2Trp)
7g.44145604G=CA1703612911GCKc.*1144C= (n.*1144C=)
c.*266C= (n.*266C=)
n.372C=
c.180C= (p.Cys60=)
c.1149C= (p.Cys383=)
c.1146C= (p.Cys382=)
c.1209C= (p.Cys403=)
n.158C=
c.198C= (p.Cys66=)
c.1143C= (p.Cys381=)
c.1095C= (p.Cys365=)
n.526C=
c.135C= (p.Cys45=)
c.6C= (p.Cys2=)
7g.44145604G>TCA367398741GCKc.*1144C>A (n.*1144C>A)
c.*266C>A (n.*266C>A)
n.372C>A
c.180C>A (p.Cys60Ter)
c.1149C>A (p.Cys383Ter)
c.1146C>A (p.Cys382Ter)
c.1209C>A (p.Cys403Ter)
n.158C>A
c.198C>A (p.Cys66Ter)
c.1143C>A (p.Cys381Ter)
c.1095C>A (p.Cys365Ter)
n.526C>A
c.135C>A (p.Cys45Ter)
c.6C>A (p.Cys2Ter)
 ClinVar dbSNP
7g.44145605C>ACA367398742GCKc.*1143G>T (n.*1143G>T)
c.*265G>T (n.*265G>T)
n.371G>T
c.179G>T (p.Cys60Phe)
c.1148G>T (p.Cys383Phe)
c.1145G>T (p.Cys382Phe)
c.1208G>T (p.Cys403Phe)
n.157G>T
c.197G>T (p.Cys66Phe)
c.1142G>T (p.Cys381Phe)
c.1094G>T (p.Cys365Phe)
n.525G>T
c.134G>T (p.Cys45Phe)
c.5G>T (p.Cys2Phe)
7g.44145605C=CA1703612912GCKc.*1143G= (n.*1143G=)
c.*265G= (n.*265G=)
n.371G=
c.179G= (p.Cys60=)
c.1148G= (p.Cys383=)
c.1145G= (p.Cys382=)
c.1208G= (p.Cys403=)
n.157G=
c.197G= (p.Cys66=)
c.1142G= (p.Cys381=)
c.1094G= (p.Cys365=)
n.525G=
c.134G= (p.Cys45=)
c.5G= (p.Cys2=)
7g.44145605C>GCA367398745GCKc.*1143G>C (n.*1143G>C)
c.*265G>C (n.*265G>C)
n.371G>C
c.179G>C (p.Cys60Ser)
c.1148G>C (p.Cys383Ser)
c.1145G>C (p.Cys382Ser)
c.1208G>C (p.Cys403Ser)
n.157G>C
c.197G>C (p.Cys66Ser)
c.1142G>C (p.Cys381Ser)
c.1094G>C (p.Cys365Ser)
n.525G>C
c.134G>C (p.Cys45Ser)
c.5G>C (p.Cys2Ser)
 ClinVar dbSNP
7g.44145605C>TCA367398751GCKc.*1143G>A (n.*1143G>A)
c.*265G>A (n.*265G>A)
n.371G>A
c.179G>A (p.Cys60Tyr)
c.1148G>A (p.Cys383Tyr)
c.1145G>A (p.Cys382Tyr)
c.1208G>A (p.Cys403Tyr)
n.157G>A
c.197G>A (p.Cys66Tyr)
c.1142G>A (p.Cys381Tyr)
c.1094G>A (p.Cys365Tyr)
n.525G>A
c.134G>A (p.Cys45Tyr)
c.5G>A (p.Cys2Tyr)
 ClinVar dbSNP
7g.44145606delCA2580612100GCKc.*1142del (n.*1142del)
c.*264del (n.*264del)
n.370del
c.178del (p.Cys60AlafsTer20)
c.1147del (p.Cys383AlafsTer20)
c.1144del (p.Cys382AlafsTer20)
c.1207del (p.Cys403AlafsTer20)
n.156del
c.196del (p.Cys66AlafsTer20)
c.1141del (p.Cys381AlafsTer20)
c.1093del (p.Cys365AlafsTer20)
n.524del
c.133del (p.Cys45AlafsTer20)
c.4del (p.Cys2AlafsTer20)
 ClinVar
7g.44145606A=CA1703612913GCKc.*1142T= (n.*1142T=)
c.*264T= (n.*264T=)
n.370T=
c.178T= (p.Cys60=)
c.1147T= (p.Cys383=)
c.1144T= (p.Cys382=)
c.1207T= (p.Cys403=)
n.156T=
c.196T= (p.Cys66=)
c.1141T= (p.Cys381=)
c.1093T= (p.Cys365=)
n.524T=
c.133T= (p.Cys45=)
c.4T= (p.Cys2=)
7g.44145606A>CCA367398753GCKc.*1142T>G (n.*1142T>G)
c.*264T>G (n.*264T>G)
n.370T>G
c.178T>G (p.Cys60Gly)
c.1147T>G (p.Cys383Gly)
c.1144T>G (p.Cys382Gly)
c.1207T>G (p.Cys403Gly)
n.156T>G
c.196T>G (p.Cys66Gly)
c.1141T>G (p.Cys381Gly)
c.1093T>G (p.Cys365Gly)
n.524T>G
c.133T>G (p.Cys45Gly)
c.4T>G (p.Cys2Gly)
 ClinVar gnomAD v4
7g.44145606A>GCA367398754GCKc.*1142T>C (n.*1142T>C)
c.*264T>C (n.*264T>C)
n.370T>C
c.178T>C (p.Cys60Arg)
c.1147T>C (p.Cys383Arg)
c.1144T>C (p.Cys382Arg)
c.1207T>C (p.Cys403Arg)
n.156T>C
c.196T>C (p.Cys66Arg)
c.1141T>C (p.Cys381Arg)
c.1093T>C (p.Cys365Arg)
n.524T>C
c.133T>C (p.Cys45Arg)
c.4T>C (p.Cys2Arg)
 ClinVar dbSNP
7g.44145606A>TCA367398756GCKc.*1142T>A (n.*1142T>A)
c.*264T>A (n.*264T>A)
n.370T>A
c.178T>A (p.Cys60Ser)
c.1147T>A (p.Cys383Ser)
c.1144T>A (p.Cys382Ser)
c.1207T>A (p.Cys403Ser)
n.156T>A
c.196T>A (p.Cys66Ser)
c.1141T>A (p.Cys381Ser)
c.1093T>A (p.Cys365Ser)
n.524T>A
c.133T>A (p.Cys45Ser)
c.4T>A (p.Cys2Ser)
7g.44145607C>ACA367398761GCKc.*1141G>T (n.*1141G>T)
c.*263G>T (n.*263G>T)
n.369G>T
c.177G>T (p.Met59Ile)
c.1146G>T (p.Met382Ile)
c.1143G>T (p.Met381Ile)
c.1206G>T (p.Met402Ile)
n.155G>T
c.195G>T (p.Met65Ile)
c.1140G>T (p.Met380Ile)
c.1092G>T (p.Met364Ile)
n.523G>T
c.132G>T (p.Met44Ile)
c.3G>T (p.Met1Ile)
7g.44145607C>GCA367398760GCKc.*1141G>C (n.*1141G>C)
c.*263G>C (n.*263G>C)
n.369G>C
c.177G>C (p.Met59Ile)
c.1146G>C (p.Met382Ile)
c.1143G>C (p.Met381Ile)
c.1206G>C (p.Met402Ile)
n.155G>C
c.195G>C (p.Met65Ile)
c.1140G>C (p.Met380Ile)
c.1092G>C (p.Met364Ile)
n.523G>C
c.132G>C (p.Met44Ile)
c.3G>C (p.Met1Ile)
7g.44145607C>TCA367398758GCKc.*1141G>A (n.*1141G>A)
c.*263G>A (n.*263G>A)
n.369G>A
c.177G>A (p.Met59Ile)
c.1146G>A (p.Met382Ile)
c.1143G>A (p.Met381Ile)
c.1206G>A (p.Met402Ile)
n.155G>A
c.195G>A (p.Met65Ile)
c.1140G>A (p.Met380Ile)
c.1092G>A (p.Met364Ile)
n.523G>A
c.132G>A (p.Met44Ile)
c.3G>A (p.Met1Ile)
7g.44145608A=CA1703612914GCKc.*1140T= (n.*1140T=)
c.*262T= (n.*262T=)
n.368T=
c.176T= (p.Met59=)
c.1145T= (p.Met382=)
c.1142T= (p.Met381=)
c.1205T= (p.Met402=)
n.154T=
c.194T= (p.Met65=)
c.1139T= (p.Met380=)
c.1091T= (p.Met364=)
n.522T=
c.131T= (p.Met44=)
c.2T= (p.Met1=)
7g.44145608A>CCA213719GCKc.*1140T>G (n.*1140T>G)
c.*262T>G (n.*262T>G)
n.368T>G
c.176T>G (p.Met59Arg)
c.1145T>G (p.Met382Arg)
c.1142T>G (p.Met381Arg)
c.1205T>G (p.Met402Arg)
n.154T>G
c.194T>G (p.Met65Arg)
c.1139T>G (p.Met380Arg)
c.1091T>G (p.Met364Arg)
n.522T>G
c.131T>G (p.Met44Arg)
c.2T>G (p.Met1Arg)
 ClinVar dbSNP
7g.44145608A>GCA367398764GCKc.*1140T>C (n.*1140T>C)
c.*262T>C (n.*262T>C)
n.368T>C
c.176T>C (p.Met59Thr)
c.1145T>C (p.Met382Thr)
c.1142T>C (p.Met381Thr)
c.1205T>C (p.Met402Thr)
n.154T>C
c.194T>C (p.Met65Thr)
c.1139T>C (p.Met380Thr)
c.1091T>C (p.Met364Thr)
n.522T>C
c.131T>C (p.Met44Thr)
c.2T>C (p.Met1Thr)
 ClinVar gnomAD v4
7g.44145608A>TCA367398767GCKc.*1140T>A (n.*1140T>A)
c.*262T>A (n.*262T>A)
n.368T>A
c.176T>A (p.Met59Lys)
c.1145T>A (p.Met382Lys)
c.1142T>A (p.Met381Lys)
c.1205T>A (p.Met402Lys)
n.154T>A
c.194T>A (p.Met65Lys)
c.1139T>A (p.Met380Lys)
c.1091T>A (p.Met364Lys)
n.522T>A
c.131T>A (p.Met44Lys)
c.2T>A (p.Met1Lys)
 ClinVar dbSNP
7g.44145608_44145609delCA2580077154GCKc.*1139_*1140del (n.*1139_*1140del)
c.*261_*262del (n.*261_*262del)
n.367_368del
c.175_176del (p.Met59ValfsTer?)
c.1144_1145del (p.Met382ValfsTer?)
c.1141_1142del (p.Met381ValfsTer?)
c.1204_1205del (p.Met402ValfsTer?)
n.153_154del
c.193_194del (p.Met65ValfsTer?)
c.1138_1139del (p.Met380ValfsTer?)
c.1090_1091del (p.Met364ValfsTer?)
n.521_522del
c.130_131del (p.Met44ValfsTer?)
c.1_2del (p.Met1ValfsTer?)
 ClinVar
7g.44145609T>ACA367398769GCKc.*1139A>T (n.*1139A>T)
c.*261A>T (n.*261A>T)
n.367A>T
c.175A>T (p.Met59Leu)
c.1144A>T (p.Met382Leu)
c.1141A>T (p.Met381Leu)
c.1204A>T (p.Met402Leu)
n.153A>T
c.193A>T (p.Met65Leu)
c.1138A>T (p.Met380Leu)
c.1090A>T (p.Met364Leu)
n.521A>T
c.130A>T (p.Met44Leu)
c.1A>T (p.Met1Leu)
 gnomAD v4
7g.44145609T>CCA367398772GCKc.*1139A>G (n.*1139A>G)
c.*261A>G (n.*261A>G)
n.367A>G
c.175A>G (p.Met59Val)
c.1144A>G (p.Met382Val)
c.1141A>G (p.Met381Val)
c.1204A>G (p.Met402Val)
n.153A>G
c.193A>G (p.Met65Val)
c.1138A>G (p.Met380Val)
c.1090A>G (p.Met364Val)
n.521A>G
c.130A>G (p.Met44Val)
c.1A>G (p.Met1Val)
 gnomAD v4
7g.44145609T>GCA4239425GCKc.*1139A>C (n.*1139A>C)
c.*261A>C (n.*261A>C)
n.367A>C
c.175A>C (p.Met59Leu)
c.1144A>C (p.Met382Leu)
c.1141A>C (p.Met381Leu)
c.1204A>C (p.Met402Leu)
n.153A>C
c.193A>C (p.Met65Leu)
c.1138A>C (p.Met380Leu)
c.1090A>C (p.Met364Leu)
n.521A>C
c.130A>C (p.Met44Leu)
c.1A>C (p.Met1Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.44145609T=CA1703612915GCKc.*1139A= (n.*1139A=)
c.*261A= (n.*261A=)
n.367A=
c.175A= (p.Met59=)
c.1144A= (p.Met382=)
c.1141A= (p.Met381=)
c.1204A= (p.Met402=)
n.153A=
c.193A= (p.Met65=)
c.1138A= (p.Met380=)
c.1090A= (p.Met364=)
n.521A=
c.130A= (p.Met44=)
c.1A= (p.Met1=)
7g.44145609_44145610insATGTCA2697557249GCKc.*1139_*1140insCATA (n.*1139_*1140insCATA)
c.*261_*262insCATA (n.*261_*262insCATA)
n.367_368insCATA
c.175_176insCATA (p.Met59ThrfsTer?)
c.1144_1145insCATA (p.Met382ThrfsTer?)
c.1141_1142insCATA (p.Met381ThrfsTer?)
c.1204_1205insCATA (p.Met402ThrfsTer?)
n.153_154insCATA
c.193_194insCATA (p.Met65ThrfsTer?)
c.1138_1139insCATA (p.Met380ThrfsTer?)
c.1090_1091insCATA (p.Met364ThrfsTer?)
n.521_522insCATA
c.130_131insCATA (p.Met44ThrfsTer?)
c.1_2insCATA (p.Met1ThrfsTer?)
 ClinVar
7g.44145610G>ACA454863243GCKc.*1138C>T (n.*1138C>T)
c.*260C>T (n.*260C>T)
n.366C>T
c.174C>T (p.His58=)
c.1143C>T (p.His381=)
c.1140C>T (p.His380=)
c.1203C>T (p.His401=)
n.152C>T
c.192C>T (p.His64=)
c.1137C>T (p.His379=)
c.1089C>T (p.His363=)
n.520C>T
c.129C>T (p.His43=)
c.-1C>T (n.-1C>T)
7g.44145610G>CCA367398774GCKc.*1138C>G (n.*1138C>G)
c.*260C>G (n.*260C>G)
n.366C>G
c.174C>G (p.His58Gln)
c.1143C>G (p.His381Gln)
c.1140C>G (p.His380Gln)
c.1203C>G (p.His401Gln)
n.152C>G
c.192C>G (p.His64Gln)
c.1137C>G (p.His379Gln)
c.1089C>G (p.His363Gln)
n.520C>G
c.129C>G (p.His43Gln)
c.-1C>G (n.-1C>G)
7g.44145610G=CA1703612916GCKc.*1138C= (n.*1138C=)
c.*260C= (n.*260C=)
n.366C=
c.174C= (p.His58=)
c.1143C= (p.His381=)
c.1140C= (p.His380=)
c.1203C= (p.His401=)
n.152C=
c.192C= (p.His64=)
c.1137C= (p.His379=)
c.1089C= (p.His363=)
n.520C=
c.129C= (p.His43=)
c.-1C= (n.-1C=)
7g.44145610G>TCA4239426GCKc.*1138C>A (n.*1138C>A)
c.*260C>A (n.*260C>A)
n.366C>A
c.174C>A (p.His58Gln)
c.1143C>A (p.His381Gln)
c.1140C>A (p.His380Gln)
c.1203C>A (p.His401Gln)
n.152C>A
c.192C>A (p.His64Gln)
c.1137C>A (p.His379Gln)
c.1089C>A (p.His363Gln)
n.520C>A
c.129C>A (p.His43Gln)
c.-1C>A (n.-1C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.44145611T>ACA367398778GCKc.*1137A>T (n.*1137A>T)
c.*259A>T (n.*259A>T)
n.365A>T
c.173A>T (p.His58Leu)
c.1142A>T (p.His381Leu)
c.1139A>T (p.His380Leu)
c.1202A>T (p.His401Leu)
n.151A>T
c.191A>T (p.His64Leu)
c.1136A>T (p.His379Leu)
c.1088A>T (p.His363Leu)
n.519A>T
c.128A>T (p.His43Leu)
c.-2A>T (n.-2A>T)
7g.44145611T>CCA367398781GCKc.*1137A>G (n.*1137A>G)
c.*259A>G (n.*259A>G)
n.365A>G
c.173A>G (p.His58Arg)
c.1142A>G (p.His381Arg)
c.1139A>G (p.His380Arg)
c.1202A>G (p.His401Arg)
n.151A>G
c.191A>G (p.His64Arg)
c.1136A>G (p.His379Arg)
c.1088A>G (p.His363Arg)
n.519A>G
c.128A>G (p.His43Arg)
c.-2A>G (n.-2A>G)
 dbSNP gnomAD v4
7g.44145611T>GCA367398780GCKc.*1137A>C (n.*1137A>C)
c.*259A>C (n.*259A>C)
n.365A>C
c.173A>C (p.His58Pro)
c.1142A>C (p.His381Pro)
c.1139A>C (p.His380Pro)
c.1202A>C (p.His401Pro)
n.151A>C
c.191A>C (p.His64Pro)
c.1136A>C (p.His379Pro)
c.1088A>C (p.His363Pro)
n.519A>C
c.128A>C (p.His43Pro)
c.-2A>C (n.-2A>C)
 ClinVar dbSNP
7g.44145611_44145620delinsTGCGCAGCGCCA1703612917GCKc.*1128_*1137delinsGCGCTGCGCA (n.*1128_*1137delinsGCGCTGCGCA)
c.*250_*259delinsGCGCTGCGCA (n.*250_*259delinsGCGCTGCGCA)
n.356_365delinsGCGCTGCGCA
c.164_173delinsGCGCTGCGCA (p.Arg55=)
c.1133_1142delinsGCGCTGCGCA (p.Arg378=)
c.1130_1139delinsGCGCTGCGCA (p.Arg377=)
c.1193_1202delinsGCGCTGCGCA (p.Arg398=)
n.142_151delinsGCGCTGCGCA
c.182_191delinsGCGCTGCGCA (p.Arg61=)
c.1127_1136delinsGCGCTGCGCA (p.Arg376=)
c.1079_1088delinsGCGCTGCGCA (p.Arg360=)
n.510_519delinsGCGCTGCGCA
c.119_128delinsGCGCTGCGCA (p.Arg40=)
c.-11_-2delinsGCGCTGCGCA (n.-11_-2delinsGCGCTGCGCA)
7g.44145612G>ACA367398783GCKc.*1136C>T (n.*1136C>T)
c.*258C>T (n.*258C>T)
n.364C>T
c.172C>T (p.His58Tyr)
c.1141C>T (p.His381Tyr)
c.1138C>T (p.His380Tyr)
c.1201C>T (p.His401Tyr)
n.150C>T
c.190C>T (p.His64Tyr)
c.1135C>T (p.His379Tyr)
c.1087C>T (p.His363Tyr)
n.518C>T
c.127C>T (p.His43Tyr)
c.-3C>T (n.-3C>T)
7g.44145612G>CCA367398784GCKc.*1136C>G (n.*1136C>G)
c.*258C>G (n.*258C>G)
n.364C>G
c.172C>G (p.His58Asp)
c.1141C>G (p.His381Asp)
c.1138C>G (p.His380Asp)
c.1201C>G (p.His401Asp)
n.150C>G
c.190C>G (p.His64Asp)
c.1135C>G (p.His379Asp)
c.1087C>G (p.His363Asp)
n.518C>G
c.127C>G (p.His43Asp)
c.-3C>G (n.-3C>G)
7g.44145612G>TCA367398788GCKc.*1136C>A (n.*1136C>A)
c.*258C>A (n.*258C>A)
n.364C>A
c.172C>A (p.His58Asn)
c.1141C>A (p.His381Asn)
c.1138C>A (p.His380Asn)
c.1201C>A (p.His401Asn)
n.150C>A
c.190C>A (p.His64Asn)
c.1135C>A (p.His379Asn)
c.1087C>A (p.His363Asn)
n.518C>A
c.127C>A (p.His43Asn)
c.-3C>A (n.-3C>A)
7g.44145615_44145623delCA645369436GCKc.*1128_*1136del (n.*1128_*1136del)
c.*250_*258del (n.*250_*258del)
n.356_364del
c.164_172del (p.Arg55_Ala57del)
c.1133_1141del (p.Arg378_Ala380del)
c.1130_1138del (p.Arg377_Ala379del)
c.1193_1201del (p.Arg398_Ala400del)
n.142_150del
c.182_190del (p.Arg61_Ala63del)
c.1127_1135del (p.Arg376_Ala378del)
c.1079_1087del (p.Arg360_Ala362del)
n.510_518del
c.119_127del (p.Arg40_Ala42del)
c.-11_-3del (n.-11_-3del)
 ClinVar dbSNP
7g.44145613C>ACA454863245GCKc.*1135G>T (n.*1135G>T)
c.*257G>T (n.*257G>T)
n.363G>T
c.171G>T (p.Ala57=)
c.1140G>T (p.Ala380=)
c.1137G>T (p.Ala379=)
c.1200G>T (p.Ala400=)
n.149G>T
c.189G>T (p.Ala63=)
c.1134G>T (p.Ala378=)
c.1086G>T (p.Ala362=)
n.517G>T
c.126G>T (p.Ala42=)
c.-4G>T (n.-4G>T)
 gnomAD v4
7g.44145613C=CA1703612918GCKc.*1135G= (n.*1135G=)
c.*257G= (n.*257G=)
n.363G=
c.171G= (p.Ala57=)
c.1140G= (p.Ala380=)
c.1137G= (p.Ala379=)
c.1200G= (p.Ala400=)
n.149G=
c.189G= (p.Ala63=)
c.1134G= (p.Ala378=)
c.1086G= (p.Ala362=)
n.517G=
c.126G= (p.Ala42=)
c.-4G= (n.-4G=)
7g.44145613C>GCA454863246GCKc.*1135G>C (n.*1135G>C)
c.*257G>C (n.*257G>C)
n.363G>C
c.171G>C (p.Ala57=)
c.1140G>C (p.Ala380=)
c.1137G>C (p.Ala379=)
c.1200G>C (p.Ala400=)
n.149G>C
c.189G>C (p.Ala63=)
c.1134G>C (p.Ala378=)
c.1086G>C (p.Ala362=)
n.517G>C
c.126G>C (p.Ala42=)
c.-4G>C (n.-4G>C)
 dbSNP
7g.44145613C>TCA4239427GCKc.*1135G>A (n.*1135G>A)
c.*257G>A (n.*257G>A)
n.363G>A
c.171G>A (p.Ala57=)
c.1140G>A (p.Ala380=)
c.1137G>A (p.Ala379=)
c.1200G>A (p.Ala400=)
n.149G>A
c.189G>A (p.Ala63=)
c.1134G>A (p.Ala378=)
c.1086G>A (p.Ala362=)
n.517G>A
c.126G>A (p.Ala42=)
c.-4G>A (n.-4G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
7g.44145618_44145640delCA2695203016GCKc.*1113_*1135del (n.*1113_*1135del)
c.*235_*257del (n.*235_*257del)
n.341_363del
c.149_171del (p.Glu50AlafsTer?)
c.1118_1140del (p.Glu373AlafsTer?)
c.1115_1137del (p.Glu372AlafsTer?)
c.1178_1200del (p.Glu393AlafsTer?)
n.127_149del
c.167_189del (p.Glu56AlafsTer?)
c.1112_1134del (p.Glu371AlafsTer?)
c.1064_1086del (p.Glu355AlafsTer?)
n.495_517del
c.104_126del (p.Glu35AlafsTer?)
c.-26_-4del (n.-26_-4del)
7g.44145614G>ACA367398790GCKc.*1134C>T (n.*1134C>T)
c.*256C>T (n.*256C>T)
n.362C>T
c.170C>T (p.Ala57Val)
c.1139C>T (p.Ala380Val)
c.1136C>T (p.Ala379Val)
c.1199C>T (p.Ala400Val)
n.148C>T
c.188C>T (p.Ala63Val)
c.1133C>T (p.Ala378Val)
c.1085C>T (p.Ala362Val)
n.516C>T
c.125C>T (p.Ala42Val)
c.-5C>T (n.-5C>T)
 ClinVar dbSNP gnomAD v4
7g.44145614G>CCA367398793GCKc.*1134C>G (n.*1134C>G)
c.*256C>G (n.*256C>G)
n.362C>G
c.170C>G (p.Ala57Gly)
c.1139C>G (p.Ala380Gly)
c.1136C>G (p.Ala379Gly)
c.1199C>G (p.Ala400Gly)
n.148C>G
c.188C>G (p.Ala63Gly)
c.1133C>G (p.Ala378Gly)
c.1085C>G (p.Ala362Gly)
n.516C>G
c.125C>G (p.Ala42Gly)
c.-5C>G (n.-5C>G)
 ClinVar dbSNP
7g.44145614G=CA1703612919GCKc.*1134C= (n.*1134C=)
c.*256C= (n.*256C=)
n.362C=
c.170C= (p.Ala57=)
c.1139C= (p.Ala380=)
c.1136C= (p.Ala379=)
c.1199C= (p.Ala400=)
n.148C=
c.188C= (p.Ala63=)
c.1133C= (p.Ala378=)
c.1085C= (p.Ala362=)
n.516C=
c.125C= (p.Ala42=)
c.-5C= (n.-5C=)
7g.44145614G>TCA213717GCKc.*1134C>A (n.*1134C>A)
c.*256C>A (n.*256C>A)
n.362C>A
c.170C>A (p.Ala57Glu)
c.1139C>A (p.Ala380Glu)
c.1136C>A (p.Ala379Glu)
c.1199C>A (p.Ala400Glu)
n.148C>A
c.188C>A (p.Ala63Glu)
c.1133C>A (p.Ala378Glu)
c.1085C>A (p.Ala362Glu)
n.516C>A
c.125C>A (p.Ala42Glu)
c.-5C>A (n.-5C>A)
 ClinVar dbSNP gnomAD v4
7g.44145615C>ACA367398795GCKc.*1133G>T (n.*1133G>T)
c.*255G>T (n.*255G>T)
n.361G>T
c.169G>T (p.Ala57Ser)
c.1138G>T (p.Ala380Ser)
c.1135G>T (p.Ala379Ser)
c.1198G>T (p.Ala400Ser)
n.147G>T
c.187G>T (p.Ala63Ser)
c.1132G>T (p.Ala378Ser)
c.1084G>T (p.Ala362Ser)
n.515G>T
c.124G>T (p.Ala42Ser)
c.-6G>T (n.-6G>T)
7g.44145615C>GCA367398797GCKc.*1133G>C (n.*1133G>C)
c.*255G>C (n.*255G>C)
n.361G>C
c.169G>C (p.Ala57Pro)
c.1138G>C (p.Ala380Pro)
c.1135G>C (p.Ala379Pro)
c.1198G>C (p.Ala400Pro)
n.147G>C
c.187G>C (p.Ala63Pro)
c.1132G>C (p.Ala378Pro)
c.1084G>C (p.Ala362Pro)
n.515G>C
c.124G>C (p.Ala42Pro)
c.-6G>C (n.-6G>C)
7g.44145615C>TCA367398799GCKc.*1133G>A (n.*1133G>A)
c.*255G>A (n.*255G>A)
n.361G>A
c.169G>A (p.Ala57Thr)
c.1138G>A (p.Ala380Thr)
c.1135G>A (p.Ala379Thr)
c.1198G>A (p.Ala400Thr)
n.147G>A
c.187G>A (p.Ala63Thr)
c.1132G>A (p.Ala378Thr)
c.1084G>A (p.Ala362Thr)
n.515G>A
c.124G>A (p.Ala42Thr)
c.-6G>A (n.-6G>A)
 gnomAD v4
7g.44145616A=CA1703612920GCKc.*1132T= (n.*1132T=)
c.*254T= (n.*254T=)
n.360T=
c.168T= (p.Ala56=)
c.1137T= (p.Ala379=)
c.1134T= (p.Ala378=)
c.1197T= (p.Ala399=)
n.146T=
c.186T= (p.Ala62=)
c.1131T= (p.Ala377=)
c.1083T= (p.Ala361=)
n.514T=
c.123T= (p.Ala41=)
c.-7T= (n.-7T=)
7g.44145616A>CCA454863248GCKc.*1132T>G (n.*1132T>G)
c.*254T>G (n.*254T>G)
n.360T>G
c.168T>G (p.Ala56=)
c.1137T>G (p.Ala379=)
c.1134T>G (p.Ala378=)
c.1197T>G (p.Ala399=)
n.146T>G
c.186T>G (p.Ala62=)
c.1131T>G (p.Ala377=)
c.1083T>G (p.Ala361=)
n.514T>G
c.123T>G (p.Ala41=)
c.-7T>G (n.-7T>G)
7g.44145616A>GCA454863250GCKc.*1132T>C (n.*1132T>C)
c.*254T>C (n.*254T>C)
n.360T>C
c.168T>C (p.Ala56=)
c.1137T>C (p.Ala379=)
c.1134T>C (p.Ala378=)
c.1197T>C (p.Ala399=)
n.146T>C
c.186T>C (p.Ala62=)
c.1131T>C (p.Ala377=)
c.1083T>C (p.Ala361=)
n.514T>C
c.123T>C (p.Ala41=)
c.-7T>C (n.-7T>C)
 gnomAD v4
7g.44145616A>TCA454863252GCKc.*1132T>A (n.*1132T>A)
c.*254T>A (n.*254T>A)
n.360T>A
c.168T>A (p.Ala56=)
c.1137T>A (p.Ala379=)
c.1134T>A (p.Ala378=)
c.1197T>A (p.Ala399=)
n.146T>A
c.186T>A (p.Ala62=)
c.1131T>A (p.Ala377=)
c.1083T>A (p.Ala361=)
n.514T>A
c.123T>A (p.Ala41=)
c.-7T>A (n.-7T>A)
 dbSNP gnomAD v3 gnomAD v4
7g.44145617G>ACA341585GCKc.*1131C>T (n.*1131C>T)
c.*253C>T (n.*253C>T)
n.359C>T
c.167C>T (p.Ala56Val)
c.1136C>T (p.Ala379Val)
c.1133C>T (p.Ala378Val)
c.1196C>T (p.Ala399Val)
n.145C>T
c.185C>T (p.Ala62Val)
c.1130C>T (p.Ala377Val)
c.1082C>T (p.Ala361Val)
n.513C>T
c.122C>T (p.Ala41Val)
c.-8C>T (n.-8C>T)
 ClinVar dbSNP
7g.44145617G>CCA367398802GCKc.*1131C>G (n.*1131C>G)
c.*253C>G (n.*253C>G)
n.359C>G
c.167C>G (p.Ala56Gly)
c.1136C>G (p.Ala379Gly)
c.1133C>G (p.Ala378Gly)
c.1196C>G (p.Ala399Gly)
n.145C>G
c.185C>G (p.Ala62Gly)
c.1130C>G (p.Ala377Gly)
c.1082C>G (p.Ala361Gly)
n.513C>G
c.122C>G (p.Ala41Gly)
c.-8C>G (n.-8C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.44145617G=CA1703612921GCKc.*1131C= (n.*1131C=)
c.*253C= (n.*253C=)
n.359C=
c.167C= (p.Ala56=)
c.1136C= (p.Ala379=)
c.1133C= (p.Ala378=)
c.1196C= (p.Ala399=)
n.145C=
c.185C= (p.Ala62=)
c.1130C= (p.Ala377=)
c.1082C= (p.Ala361=)
n.513C=
c.122C= (p.Ala41=)
c.-8C= (n.-8C=)
7g.44145617G>TCA367398804GCKc.*1131C>A (n.*1131C>A)
c.*253C>A (n.*253C>A)
n.359C>A
c.167C>A (p.Ala56Asp)
c.1136C>A (p.Ala379Asp)
c.1133C>A (p.Ala378Asp)
c.1196C>A (p.Ala399Asp)
n.145C>A
c.185C>A (p.Ala62Asp)
c.1130C>A (p.Ala377Asp)
c.1082C>A (p.Ala361Asp)
n.513C>A
c.122C>A (p.Ala41Asp)
c.-8C>A (n.-8C>A)
 ClinVar
7g.44145622_44145623delCA2580612101GCKc.*1130_*1131del (n.*1130_*1131del)
c.*252_*253del (n.*252_*253del)
n.358_359del
c.166_167del (p.Ala56CysfsTer?)
c.1135_1136del (p.Ala379CysfsTer?)
c.1132_1133del (p.Ala378CysfsTer?)
c.1195_1196del (p.Ala399CysfsTer?)
n.144_145del
c.184_185del (p.Ala62CysfsTer?)
c.1129_1130del (p.Ala377CysfsTer?)
c.1081_1082del (p.Ala361CysfsTer?)
n.512_513del
c.121_122del (p.Ala41CysfsTer?)
c.-9_-8del (n.-9_-8del)
 ClinVar
7g.44145618C>ACA367398806GCKc.*1130G>T (n.*1130G>T)
c.*252G>T (n.*252G>T)
n.358G>T
c.166G>T (p.Ala56Ser)
c.1135G>T (p.Ala379Ser)
c.1132G>T (p.Ala378Ser)
c.1195G>T (p.Ala399Ser)
n.144G>T
c.184G>T (p.Ala62Ser)
c.1129G>T (p.Ala377Ser)
c.1081G>T (p.Ala361Ser)
n.512G>T
c.121G>T (p.Ala41Ser)
c.-9G>T (n.-9G>T)
 gnomAD v4
7g.44145618C=CA1703612922GCKc.*1130G= (n.*1130G=)
c.*252G= (n.*252G=)
n.358G=
c.166G= (p.Ala56=)
c.1135G= (p.Ala379=)
c.1132G= (p.Ala378=)
c.1195G= (p.Ala399=)
n.144G=
c.184G= (p.Ala62=)
c.1129G= (p.Ala377=)
c.1081G= (p.Ala361=)
n.512G=
c.121G= (p.Ala41=)
c.-9G= (n.-9G=)
7g.44145618C>GCA367398808GCKc.*1130G>C (n.*1130G>C)
c.*252G>C (n.*252G>C)
n.358G>C
c.166G>C (p.Ala56Pro)
c.1135G>C (p.Ala379Pro)
c.1132G>C (p.Ala378Pro)
c.1195G>C (p.Ala399Pro)
n.144G>C
c.184G>C (p.Ala62Pro)
c.1129G>C (p.Ala377Pro)
c.1081G>C (p.Ala361Pro)
n.512G>C
c.121G>C (p.Ala41Pro)
c.-9G>C (n.-9G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.44145618C>TCA126216GCKc.*1130G>A (n.*1130G>A)
c.*252G>A (n.*252G>A)
n.358G>A
c.166G>A (p.Ala56Thr)
c.1135G>A (p.Ala379Thr)
c.1132G>A (p.Ala378Thr)
c.1195G>A (p.Ala399Thr)
n.144G>A
c.184G>A (p.Ala62Thr)
c.1129G>A (p.Ala377Thr)
c.1081G>A (p.Ala361Thr)
n.512G>A
c.121G>A (p.Ala41Thr)
c.-9G>A (n.-9G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.44145621_44145632delCA2695203036GCKc.*1119_*1130del (n.*1119_*1130del)
c.*241_*252del (n.*241_*252del)
n.347_358del
c.155_166del (p.Val52_Arg55del)
c.1124_1135del (p.Val375_Arg378del)
c.1121_1132del (p.Val374_Arg377del)
c.1184_1195del (p.Val395_Arg398del)
n.133_144del
c.173_184del (p.Val58_Arg61del)
c.1118_1129del (p.Val373_Arg376del)
c.1070_1081del (p.Val357_Arg360del)
n.501_512del
c.110_121del (p.Val37_Arg40del)
c.-20_-9del (n.-20_-9del)
7g.44145619G>ACA454863255GCKc.*1129C>T (n.*1129C>T)
c.*251C>T (n.*251C>T)
n.357C>T
c.165C>T (p.Arg55=)
c.1134C>T (p.Arg378=)
c.1131C>T (p.Arg377=)
c.1194C>T (p.Arg398=)
n.143C>T
c.183C>T (p.Arg61=)
c.1128C>T (p.Arg376=)
c.1080C>T (p.Arg360=)
n.511C>T
c.120C>T (p.Arg40=)
c.-10C>T (n.-10C>T)
 dbSNP gnomAD v2
7g.44145619G>CCA454863256GCKc.*1129C>G (n.*1129C>G)
c.*251C>G (n.*251C>G)
n.357C>G
c.165C>G (p.Arg55=)
c.1134C>G (p.Arg378=)
c.1131C>G (p.Arg377=)
c.1194C>G (p.Arg398=)
n.143C>G
c.183C>G (p.Arg61=)
c.1128C>G (p.Arg376=)
c.1080C>G (p.Arg360=)
n.511C>G
c.120C>G (p.Arg40=)
c.-10C>G (n.-10C>G)
7g.44145619G=CA1703612923GCKc.*1129C= (n.*1129C=)
c.*251C= (n.*251C=)
n.357C=
c.165C= (p.Arg55=)
c.1134C= (p.Arg378=)
c.1131C= (p.Arg377=)
c.1194C= (p.Arg398=)
n.143C=
c.183C= (p.Arg61=)
c.1128C= (p.Arg376=)
c.1080C= (p.Arg360=)
n.511C=
c.120C= (p.Arg40=)
c.-10C= (n.-10C=)
7g.44145619G>TCA454863257GCKc.*1129C>A (n.*1129C>A)
c.*251C>A (n.*251C>A)
n.357C>A
c.165C>A (p.Arg55=)
c.1134C>A (p.Arg378=)
c.1131C>A (p.Arg377=)
c.1194C>A (p.Arg398=)
n.143C>A
c.183C>A (p.Arg61=)
c.1128C>A (p.Arg376=)
c.1080C>A (p.Arg360=)
n.511C>A
c.120C>A (p.Arg40=)
c.-10C>A (n.-10C>A)
 gnomAD v4
7g.44145620C>ACA367398811GCKc.*1128G>T (n.*1128G>T)
c.*250G>T (n.*250G>T)
n.356G>T
c.164G>T (p.Arg55Leu)
c.1133G>T (p.Arg378Leu)
c.1130G>T (p.Arg377Leu)
c.1193G>T (p.Arg398Leu)
n.142G>T
c.182G>T (p.Arg61Leu)
c.1127G>T (p.Arg376Leu)
c.1079G>T (p.Arg360Leu)
n.510G>T
c.119G>T (p.Arg40Leu)
c.-11G>T (n.-11G>T)
 ClinVar dbSNP
7g.44145620C=CA1703612924GCKc.*1128G= (n.*1128G=)
c.*250G= (n.*250G=)
n.356G=
c.164G= (p.Arg55=)
c.1133G= (p.Arg378=)
c.1130G= (p.Arg377=)
c.1193G= (p.Arg398=)
n.142G=
c.182G= (p.Arg61=)
c.1127G= (p.Arg376=)
c.1079G= (p.Arg360=)
n.510G=
c.119G= (p.Arg40=)
c.-11G= (n.-11G=)
7g.44145620C>GCA367398812GCKc.*1128G>C (n.*1128G>C)
c.*250G>C (n.*250G>C)
n.356G>C
c.164G>C (p.Arg55Pro)
c.1133G>C (p.Arg378Pro)
c.1130G>C (p.Arg377Pro)
c.1193G>C (p.Arg398Pro)
n.142G>C
c.182G>C (p.Arg61Pro)
c.1127G>C (p.Arg376Pro)
c.1079G>C (p.Arg360Pro)
n.510G>C
c.119G>C (p.Arg40Pro)
c.-11G>C (n.-11G>C)
7g.44145620C>TCA213715GCKc.*1128G>A (n.*1128G>A)
c.*250G>A (n.*250G>A)
n.356G>A
c.164G>A (p.Arg55His)
c.1133G>A (p.Arg378His)
c.1130G>A (p.Arg377His)
c.1193G>A (p.Arg398His)
n.142G>A
c.182G>A (p.Arg61His)
c.1127G>A (p.Arg376His)
c.1079G>A (p.Arg360His)
n.510G>A
c.119G>A (p.Arg40His)
c.-11G>A (n.-11G>A)
 ClinVar dbSNP gnomAD v4
7g.44145621G>ACA367398826GCKc.*1127C>T (n.*1127C>T)
c.*249C>T (n.*249C>T)
n.355C>T
c.163C>T (p.Arg55Cys)
c.1132C>T (p.Arg378Cys)
c.1129C>T (p.Arg377Cys)
c.1192C>T (p.Arg398Cys)
n.141C>T
c.181C>T (p.Arg61Cys)
c.1126C>T (p.Arg376Cys)
c.1078C>T (p.Arg360Cys)
n.509C>T
c.118C>T (p.Arg40Cys)
c.-12C>T (n.-12C>T)
 ClinVar dbSNP gnomAD v2
7g.44145621G>CCA367398817GCKc.*1127C>G (n.*1127C>G)
c.*249C>G (n.*249C>G)
n.355C>G
c.163C>G (p.Arg55Gly)
c.1132C>G (p.Arg378Gly)
c.1129C>G (p.Arg377Gly)
c.1192C>G (p.Arg398Gly)
n.141C>G
c.181C>G (p.Arg61Gly)
c.1126C>G (p.Arg376Gly)
c.1078C>G (p.Arg360Gly)
n.509C>G
c.118C>G (p.Arg40Gly)
c.-12C>G (n.-12C>G)
 gnomAD v4
7g.44145621G=CA1703612925GCKc.*1127C= (n.*1127C=)
c.*249C= (n.*249C=)
n.355C=
c.163C= (p.Arg55=)
c.1132C= (p.Arg378=)
c.1129C= (p.Arg377=)
c.1192C= (p.Arg398=)
n.141C=
c.181C= (p.Arg61=)
c.1126C= (p.Arg376=)
c.1078C= (p.Arg360=)
n.509C=
c.118C= (p.Arg40=)
c.-12C= (n.-12C=)
7g.44145621G>TCA367398819GCKc.*1127C>A (n.*1127C>A)
c.*249C>A (n.*249C>A)
n.355C>A
c.163C>A (p.Arg55Ser)
c.1132C>A (p.Arg378Ser)
c.1129C>A (p.Arg377Ser)
c.1192C>A (p.Arg398Ser)
n.141C>A
c.181C>A (p.Arg61Ser)
c.1126C>A (p.Arg376Ser)
c.1078C>A (p.Arg360Ser)
n.509C>A
c.118C>A (p.Arg40Ser)
c.-12C>A (n.-12C>A)
 ClinVar gnomAD v4
7g.44145622C>ACA454863264GCKc.*1126G>T (n.*1126G>T)
c.*248G>T (n.*248G>T)
n.354G>T
c.162G>T (p.Thr54=)
c.1131G>T (p.Thr377=)
c.1128G>T (p.Thr376=)
c.1191G>T (p.Thr397=)
n.140G>T
c.180G>T (p.Thr60=)
c.1125G>T (p.Thr375=)
c.1077G>T (p.Thr359=)
n.508G>T
c.117G>T (p.Thr39=)
c.-13G>T (n.-13G>T)
 dbSNP gnomAD v2 gnomAD v4
7g.44145622C=CA1703612926GCKc.*1126G= (n.*1126G=)
c.*248G= (n.*248G=)
n.354G=
c.162G= (p.Thr54=)
c.1131G= (p.Thr377=)
c.1128G= (p.Thr376=)
c.1191G= (p.Thr397=)
n.140G=
c.180G= (p.Thr60=)
c.1125G= (p.Thr375=)
c.1077G= (p.Thr359=)
n.508G=
c.117G= (p.Thr39=)
c.-13G= (n.-13G=)
7g.44145622C>GCA454863265GCKc.*1126G>C (n.*1126G>C)
c.*248G>C (n.*248G>C)
n.354G>C
c.162G>C (p.Thr54=)
c.1131G>C (p.Thr377=)
c.1128G>C (p.Thr376=)
c.1191G>C (p.Thr397=)
n.140G>C
c.180G>C (p.Thr60=)
c.1125G>C (p.Thr375=)
c.1077G>C (p.Thr359=)
n.508G>C
c.117G>C (p.Thr39=)
c.-13G>C (n.-13G>C)
7g.44145622C>TCA454863266GCKc.*1126G>A (n.*1126G>A)
c.*248G>A (n.*248G>A)
n.354G>A
c.162G>A (p.Thr54=)
c.1131G>A (p.Thr377=)
c.1128G>A (p.Thr376=)
c.1191G>A (p.Thr397=)
n.140G>A
c.180G>A (p.Thr60=)
c.1125G>A (p.Thr375=)
c.1077G>A (p.Thr359=)
n.508G>A
c.117G>A (p.Thr39=)
c.-13G>A (n.-13G>A)
 gnomAD v4
7g.44145624_44145631delCA2695203037GCKc.*1119_*1126del (n.*1119_*1126del)
c.*241_*248del (n.*241_*248del)
n.347_354del
c.155_162del (p.Val52AlafsTer?)
c.1124_1131del (p.Val375AlafsTer?)
c.1121_1128del (p.Val374AlafsTer?)
c.1184_1191del (p.Val395AlafsTer?)
n.133_140del
c.173_180del (p.Val58AlafsTer?)
c.1118_1125del (p.Val373AlafsTer?)
c.1070_1077del (p.Val357AlafsTer?)
n.501_508del
c.110_117del (p.Val37AlafsTer?)
c.-20_-13del (n.-20_-13del)
7g.44145622_44145623insTCA2695203038GCKc.*1125_*1126insA (n.*1125_*1126insA)
c.*247_*248insA (n.*247_*248insA)
n.353_354insA
c.161_162insA (p.Arg55AlafsTer?)
c.1130_1131insA (p.Arg378AlafsTer?)
c.1127_1128insA (p.Arg377AlafsTer?)
c.1190_1191insA (p.Arg398AlafsTer?)
n.139_140insA
c.179_180insA (p.Arg61AlafsTer?)
c.1124_1125insA (p.Arg376AlafsTer?)
c.1076_1077insA (p.Arg360AlafsTer?)
n.507_508insA
c.116_117insA (p.Arg40AlafsTer?)
c.-14_-13insA (n.-14_-13insA)
7g.44145623G>ACA367398829GCKc.*1125C>T (n.*1125C>T)
c.*247C>T (n.*247C>T)
n.353C>T
c.161C>T (p.Thr54Met)
c.1130C>T (p.Thr377Met)
c.1127C>T (p.Thr376Met)
c.1190C>T (p.Thr397Met)
n.139C>T
c.179C>T (p.Thr60Met)
c.1124C>T (p.Thr375Met)
c.1076C>T (p.Thr359Met)
n.507C>T
c.116C>T (p.Thr39Met)
c.-14C>T (n.-14C>T)
 gnomAD v4
7g.44145623G>CCA367398831GCKc.*1125C>G (n.*1125C>G)
c.*247C>G (n.*247C>G)
n.353C>G
c.161C>G (p.Thr54Arg)
c.1130C>G (p.Thr377Arg)
c.1127C>G (p.Thr376Arg)
c.1190C>G (p.Thr397Arg)
n.139C>G
c.179C>G (p.Thr60Arg)
c.1124C>G (p.Thr375Arg)
c.1076C>G (p.Thr359Arg)
n.507C>G
c.116C>G (p.Thr39Arg)
c.-14C>G (n.-14C>G)
7g.44145623G>TCA367398834GCKc.*1125C>A (n.*1125C>A)
c.*247C>A (n.*247C>A)
n.353C>A
c.161C>A (p.Thr54Lys)
c.1130C>A (p.Thr377Lys)
c.1127C>A (p.Thr376Lys)
c.1190C>A (p.Thr397Lys)
n.139C>A
c.179C>A (p.Thr60Lys)
c.1124C>A (p.Thr375Lys)
c.1076C>A (p.Thr359Lys)
n.507C>A
c.116C>A (p.Thr39Lys)
c.-14C>A (n.-14C>A)
 gnomAD v4
7g.44145624_44145626delCA913187442GCKc.*1123_*1125del (n.*1123_*1125del)
c.*245_*247del (n.*245_*247del)
n.351_353del
c.159_161del (p.Thr54del)
c.1128_1130del (p.Thr377del)
c.1125_1127del (p.Thr376del)
c.1188_1190del (p.Thr397del)
n.137_139del
c.177_179del (p.Thr60del)
c.1122_1124del (p.Thr375del)
c.1074_1076del (p.Thr359del)
n.505_507del
c.114_116del (p.Thr39del)
c.-16_-14del (n.-16_-14del)
7g.44145624T>ACA367398836GCKc.*1124A>T (n.*1124A>T)
c.*246A>T (n.*246A>T)
n.352A>T
c.160A>T (p.Thr54Ser)
c.1129A>T (p.Thr377Ser)
c.1126A>T (p.Thr376Ser)
c.1189A>T (p.Thr397Ser)
n.138A>T
c.178A>T (p.Thr60Ser)
c.1123A>T (p.Thr375Ser)
c.1075A>T (p.Thr359Ser)
n.506A>T
c.115A>T (p.Thr39Ser)
c.-15A>T (n.-15A>T)
7g.44145624T>CCA367398838GCKc.*1124A>G (n.*1124A>G)
c.*246A>G (n.*246A>G)
n.352A>G
c.160A>G (p.Thr54Ala)
c.1129A>G (p.Thr377Ala)
c.1126A>G (p.Thr376Ala)
c.1189A>G (p.Thr397Ala)
n.138A>G
c.178A>G (p.Thr60Ala)
c.1123A>G (p.Thr375Ala)
c.1075A>G (p.Thr359Ala)
n.506A>G
c.115A>G (p.Thr39Ala)
c.-15A>G (n.-15A>G)
7g.44145624T>GCA367398841GCKc.*1124A>C (n.*1124A>C)
c.*246A>C (n.*246A>C)
n.352A>C
c.160A>C (p.Thr54Pro)
c.1129A>C (p.Thr377Pro)
c.1126A>C (p.Thr376Pro)
c.1189A>C (p.Thr397Pro)
n.138A>C
c.178A>C (p.Thr60Pro)
c.1123A>C (p.Thr375Pro)
c.1075A>C (p.Thr359Pro)
n.506A>C
c.115A>C (p.Thr39Pro)
c.-15A>C (n.-15A>C)
7g.44145625A>CCA454863267GCKc.*1123T>G (n.*1123T>G)
c.*245T>G (n.*245T>G)
n.351T>G
c.159T>G (p.Ser53=)
c.1128T>G (p.Ser376=)
c.1125T>G (p.Ser375=)
c.1188T>G (p.Ser396=)
n.137T>G
c.177T>G (p.Ser59=)
c.1122T>G (p.Ser374=)
c.1074T>G (p.Ser358=)
n.505T>G
c.114T>G (p.Ser38=)
c.-16T>G (n.-16T>G)
7g.44145625A>GCA454863268GCKc.*1123T>C (n.*1123T>C)
c.*245T>C (n.*245T>C)
n.351T>C
c.159T>C (p.Ser53=)
c.1128T>C (p.Ser376=)
c.1125T>C (p.Ser375=)
c.1188T>C (p.Ser396=)
n.137T>C
c.177T>C (p.Ser59=)
c.1122T>C (p.Ser374=)
c.1074T>C (p.Ser358=)
n.505T>C
c.114T>C (p.Ser38=)
c.-16T>C (n.-16T>C)
7g.44145625A>TCA454863269GCKc.*1123T>A (n.*1123T>A)
c.*245T>A (n.*245T>A)
n.351T>A
c.159T>A (p.Ser53=)
c.1128T>A (p.Ser376=)
c.1125T>A (p.Ser375=)
c.1188T>A (p.Ser396=)
n.137T>A
c.177T>A (p.Ser59=)
c.1122T>A (p.Ser374=)
c.1074T>A (p.Ser358=)
n.505T>A
c.114T>A (p.Ser38=)
c.-16T>A (n.-16T>A)
7g.44145626G>ACA213713GCKc.*1122C>T (n.*1122C>T)
c.*244C>T (n.*244C>T)
n.350C>T
c.158C>T (p.Ser53Phe)
c.1127C>T (p.Ser376Phe)
c.1124C>T (p.Ser375Phe)
c.1187C>T (p.Ser396Phe)
n.136C>T
c.176C>T (p.Ser59Phe)
c.1121C>T (p.Ser374Phe)
c.1073C>T (p.Ser358Phe)
n.504C>T
c.113C>T (p.Ser38Phe)
c.-17C>T (n.-17C>T)
 ClinVar dbSNP
7g.44145626G>CCA367398844GCKc.*1122C>G (n.*1122C>G)
c.*244C>G (n.*244C>G)
n.350C>G
c.158C>G (p.Ser53Cys)
c.1127C>G (p.Ser376Cys)
c.1124C>G (p.Ser375Cys)
c.1187C>G (p.Ser396Cys)
n.136C>G
c.176C>G (p.Ser59Cys)
c.1121C>G (p.Ser374Cys)
c.1073C>G (p.Ser358Cys)
n.504C>G
c.113C>G (p.Ser38Cys)
c.-17C>G (n.-17C>G)
7g.44145626G=CA1703612927GCKc.*1122C= (n.*1122C=)
c.*244C= (n.*244C=)
n.350C=
c.158C= (p.Ser53=)
c.1127C= (p.Ser376=)
c.1124C= (p.Ser375=)
c.1187C= (p.Ser396=)
n.136C=
c.176C= (p.Ser59=)
c.1121C= (p.Ser374=)
c.1073C= (p.Ser358=)
n.504C=
c.113C= (p.Ser38=)
c.-17C= (n.-17C=)
7g.44145626G>TCA367398843GCKc.*1122C>A (n.*1122C>A)
c.*244C>A (n.*244C>A)
n.350C>A
c.158C>A (p.Ser53Tyr)
c.1127C>A (p.Ser376Tyr)
c.1124C>A (p.Ser375Tyr)
c.1187C>A (p.Ser396Tyr)
n.136C>A
c.176C>A (p.Ser59Tyr)
c.1121C>A (p.Ser374Tyr)
c.1073C>A (p.Ser358Tyr)
n.504C>A
c.113C>A (p.Ser38Tyr)
c.-17C>A (n.-17C>A)
 ClinVar gnomAD v4

Number of alleles fetched