Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26474624delCA273582OTOFc.3178del (p.Ala1060GlnfsTer?)
c.937del (p.Ala313GlnfsTer?)
c.1108del (p.Ala370GlnfsTer?)
c.3223del (p.Ala1075GlnfsTer?)
ClinVar dbSNP gnomAD v4
2g.26474624C>ACA346109252OTOFc.3177G>T (p.Met1059Ile)
c.936G>T (p.Met312Ile)
c.1107G>T (p.Met369Ile)
c.3222G>T (p.Met1074Ile)
2g.26474624C>GCA346109231OTOFc.3177G>C (p.Met1059Ile)
c.936G>C (p.Met312Ile)
c.1107G>C (p.Met369Ile)
c.3222G>C (p.Met1074Ile)
2g.26474624C>TCA346109240OTOFc.3177G>A (p.Met1059Ile)
c.936G>A (p.Met312Ile)
c.1107G>A (p.Met369Ile)
c.3222G>A (p.Met1074Ile)
2g.26474625A=CA1239826496OTOFc.3176T= (p.Met1059=)
c.935T= (p.Met312=)
c.1106T= (p.Met369=)
c.3221T= (p.Met1074=)
2g.26474625A>CCA346109256OTOFc.3176T>G (p.Met1059Arg)
c.935T>G (p.Met312Arg)
c.1106T>G (p.Met369Arg)
c.3221T>G (p.Met1074Arg)
2g.26474625A>GCA346109259OTOFc.3176T>C (p.Met1059Thr)
c.935T>C (p.Met312Thr)
c.1106T>C (p.Met369Thr)
c.3221T>C (p.Met1074Thr)
dbSNP gnomAD v4
2g.26474625A>TCA346109263OTOFc.3176T>A (p.Met1059Lys)
c.935T>A (p.Met312Lys)
c.1106T>A (p.Met369Lys)
c.3221T>A (p.Met1074Lys)
2g.26474626T>ACA346109269OTOFc.3175A>T (p.Met1059Leu)
c.934A>T (p.Met312Leu)
c.1105A>T (p.Met369Leu)
c.3220A>T (p.Met1074Leu)
2g.26474626T>CCA346109275OTOFc.3175A>G (p.Met1059Val)
c.934A>G (p.Met312Val)
c.1105A>G (p.Met369Val)
c.3220A>G (p.Met1074Val)
2g.26474626T>GCA346109278OTOFc.3175A>C (p.Met1059Leu)
c.934A>C (p.Met312Leu)
c.1105A>C (p.Met369Leu)
c.3220A>C (p.Met1074Leu)
2g.26474627C>ACA346109290OTOFc.3174G>T (p.Lys1058Asn)
c.933G>T (p.Lys311Asn)
c.1104G>T (p.Lys368Asn)
c.3219G>T (p.Lys1073Asn)
2g.26474627C=CA1239826502OTOFc.3174G= (p.Lys1058=)
c.933G= (p.Lys311=)
c.1104G= (p.Lys368=)
c.3219G= (p.Lys1073=)
2g.26474627C>GCA346109289OTOFc.3174G>C (p.Lys1058Asn)
c.933G>C (p.Lys311Asn)
c.1104G>C (p.Lys368Asn)
c.3219G>C (p.Lys1073Asn)
gnomAD v4
2g.26474627C>TCA1563638OTOFc.3174G>A (p.Lys1058=)
c.933G>A (p.Lys311=)
c.1104G>A (p.Lys368=)
c.3219G>A (p.Lys1073=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26474628T>ACA346109294OTOFc.3173A>T (p.Lys1058Met)
c.932A>T (p.Lys311Met)
c.1103A>T (p.Lys368Met)
c.3218A>T (p.Lys1073Met)
2g.26474628T>CCA346109296OTOFc.3173A>G (p.Lys1058Arg)
c.932A>G (p.Lys311Arg)
c.1103A>G (p.Lys368Arg)
c.3218A>G (p.Lys1073Arg)
2g.26474628T>GCA346109298OTOFc.3173A>C (p.Lys1058Thr)
c.932A>C (p.Lys311Thr)
c.1103A>C (p.Lys368Thr)
c.3218A>C (p.Lys1073Thr)
2g.26474629T>ACA346109301OTOFc.3172A>T (p.Lys1058Ter)
c.931A>T (p.Lys311Ter)
c.1102A>T (p.Lys368Ter)
c.3217A>T (p.Lys1073Ter)
2g.26474629T>CCA346109304OTOFc.3172A>G (p.Lys1058Glu)
c.931A>G (p.Lys311Glu)
c.1102A>G (p.Lys368Glu)
c.3217A>G (p.Lys1073Glu)
2g.26474629T>GCA346109306OTOFc.3172A>C (p.Lys1058Gln)
c.931A>C (p.Lys311Gln)
c.1102A>C (p.Lys368Gln)
c.3217A>C (p.Lys1073Gln)
2g.26474630C>ACA425203819OTOFc.3171G>T (p.Val1057=)
c.930G>T (p.Val310=)
c.1101G>T (p.Val367=)
c.3216G>T (p.Val1072=)
2g.26474630C=CA1239826503OTOFc.3171G= (p.Val1057=)
c.930G= (p.Val310=)
c.1101G= (p.Val367=)
c.3216G= (p.Val1072=)
2g.26474630C>GCA425203820OTOFc.3171G>C (p.Val1057=)
c.930G>C (p.Val310=)
c.1101G>C (p.Val367=)
c.3216G>C (p.Val1072=)
2g.26474630C>TCA425203821OTOFc.3171G>A (p.Val1057=)
c.930G>A (p.Val310=)
c.1101G>A (p.Val367=)
c.3216G>A (p.Val1072=)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC
2g.26474631A>CCA346109311OTOFc.3170T>G (p.Val1057Gly)
c.929T>G (p.Val310Gly)
c.1100T>G (p.Val367Gly)
c.3215T>G (p.Val1072Gly)
2g.26474631A>GCA346109316OTOFc.3170T>C (p.Val1057Ala)
c.929T>C (p.Val310Ala)
c.1100T>C (p.Val367Ala)
c.3215T>C (p.Val1072Ala)
gnomAD v4
2g.26474631A>TCA346109313OTOFc.3170T>A (p.Val1057Glu)
c.929T>A (p.Val310Glu)
c.1100T>A (p.Val367Glu)
c.3215T>A (p.Val1072Glu)
2g.26474632C>ACA346109318OTOFc.3169G>T (p.Val1057Leu)
c.928G>T (p.Val310Leu)
c.1099G>T (p.Val367Leu)
c.3214G>T (p.Val1072Leu)
2g.26474632C>GCA346109320OTOFc.3169G>C (p.Val1057Leu)
c.928G>C (p.Val310Leu)
c.1099G>C (p.Val367Leu)
c.3214G>C (p.Val1072Leu)
2g.26474632C>TCA346109323OTOFc.3169G>A (p.Val1057Met)
c.928G>A (p.Val310Met)
c.1099G>A (p.Val367Met)
c.3214G>A (p.Val1072Met)
2g.26474633C>ACA425203824OTOFc.3168G>T (p.Leu1056=)
c.927G>T (p.Leu309=)
c.1098G>T (p.Leu366=)
c.3213G>T (p.Leu1071=)
2g.26474633C=CA1239826504OTOFc.3168G= (p.Leu1056=)
c.927G= (p.Leu309=)
c.1098G= (p.Leu366=)
c.3213G= (p.Leu1071=)
2g.26474633C>GCA425203825OTOFc.3168G>C (p.Leu1056=)
c.927G>C (p.Leu309=)
c.1098G>C (p.Leu366=)
c.3213G>C (p.Leu1071=)
gnomAD v4
2g.26474633C>TCA425203827OTOFc.3168G>A (p.Leu1056=)
c.927G>A (p.Leu309=)
c.1098G>A (p.Leu366=)
c.3213G>A (p.Leu1071=)
dbSNP gnomAD v2 gnomAD v4
2g.26474634A>CCA346109329OTOFc.3167T>G (p.Leu1056Arg)
c.926T>G (p.Leu309Arg)
c.1097T>G (p.Leu366Arg)
c.3212T>G (p.Leu1071Arg)
2g.26474634A>GCA346109333OTOFc.3167T>C (p.Leu1056Pro)
c.926T>C (p.Leu309Pro)
c.1097T>C (p.Leu366Pro)
c.3212T>C (p.Leu1071Pro)
2g.26474634A>TCA346109334OTOFc.3167T>A (p.Leu1056Gln)
c.926T>A (p.Leu309Gln)
c.1097T>A (p.Leu366Gln)
c.3212T>A (p.Leu1071Gln)
gnomAD v4
2g.26474634_26474635delinsAGCA1239826505OTOFc.3166_3167delinsCT (p.Leu1056=)
c.925_926delinsCT (p.Leu309=)
c.1096_1097delinsCT (p.Leu366=)
c.3211_3212delinsCT (p.Leu1071=)
2g.26474635G>ACA425203833OTOFc.3166C>T (p.Leu1056=)
c.925C>T (p.Leu309=)
c.1096C>T (p.Leu366=)
c.3211C>T (p.Leu1071=)
gnomAD v4
2g.26474635G>CCA346109335OTOFc.3166C>G (p.Leu1056Val)
c.925C>G (p.Leu309Val)
c.1096C>G (p.Leu366Val)
c.3211C>G (p.Leu1071Val)
2g.26474635G>TCA346109336OTOFc.3166C>A (p.Leu1056Met)
c.925C>A (p.Leu309Met)
c.1096C>A (p.Leu366Met)
c.3211C>A (p.Leu1071Met)
2g.26474638delCA1028610883OTOFc.3166del (p.Leu1056TrpfsTer2)
c.925del (p.Leu309TrpfsTer2)
c.1096del (p.Leu366TrpfsTer2)
c.3211del (p.Leu1071TrpfsTer2)
dbSNP gnomAD v3 gnomAD v4
2g.26474636G>ACA425203840OTOFc.3165C>T (p.Pro1055=)
c.924C>T (p.Pro308=)
c.1095C>T (p.Pro365=)
c.3210C>T (p.Pro1070=)
2g.26474636G>CCA425203839OTOFc.3165C>G (p.Pro1055=)
c.924C>G (p.Pro308=)
c.1095C>G (p.Pro365=)
c.3210C>G (p.Pro1070=)
2g.26474636G>TCA425203838OTOFc.3165C>A (p.Pro1055=)
c.924C>A (p.Pro308=)
c.1095C>A (p.Pro365=)
c.3210C>A (p.Pro1070=)
2g.26474637G>ACA346109343OTOFc.3164C>T (p.Pro1055Leu)
c.923C>T (p.Pro308Leu)
c.1094C>T (p.Pro365Leu)
c.3209C>T (p.Pro1070Leu)
2g.26474637G>CCA346109344OTOFc.3164C>G (p.Pro1055Arg)
c.923C>G (p.Pro308Arg)
c.1094C>G (p.Pro365Arg)
c.3209C>G (p.Pro1070Arg)
2g.26474637G>TCA346109345OTOFc.3164C>A (p.Pro1055His)
c.923C>A (p.Pro308His)
c.1094C>A (p.Pro365His)
c.3209C>A (p.Pro1070His)
2g.26474638G>ACA346109348OTOFc.3163C>T (p.Pro1055Ser)
c.922C>T (p.Pro308Ser)
c.1093C>T (p.Pro365Ser)
c.3208C>T (p.Pro1070Ser)
dbSNP gnomAD v4
2g.26474638G>CCA346109353OTOFc.3163C>G (p.Pro1055Ala)
c.922C>G (p.Pro308Ala)
c.1093C>G (p.Pro365Ala)
c.3208C>G (p.Pro1070Ala)
dbSNP gnomAD v3 gnomAD v4
2g.26474638G=CA1239826506OTOFc.3163C= (p.Pro1055=)
c.922C= (p.Pro308=)
c.1093C= (p.Pro365=)
c.3208C= (p.Pro1070=)
2g.26474638G>TCA44397361OTOFc.3163C>A (p.Pro1055Thr)
c.922C>A (p.Pro308Thr)
c.1093C>A (p.Pro365Thr)
c.3208C>A (p.Pro1070Thr)
dbSNP gnomAD v4
2g.26474639T>ACA346109355OTOFc.3162A>T (p.Lys1054Asn)
c.921A>T (p.Lys307Asn)
c.1092A>T (p.Lys364Asn)
c.3207A>T (p.Lys1069Asn)
COSMIC COSMIC COSMIC
2g.26474639T>CCA425203843OTOFc.3162A>G (p.Lys1054=)
c.921A>G (p.Lys307=)
c.1092A>G (p.Lys364=)
c.3207A>G (p.Lys1069=)
2g.26474639T>GCA346109356OTOFc.3162A>C (p.Lys1054Asn)
c.921A>C (p.Lys307Asn)
c.1092A>C (p.Lys364Asn)
c.3207A>C (p.Lys1069Asn)
2g.26474640T>ACA346109365OTOFc.3161A>T (p.Lys1054Ile)
c.920A>T (p.Lys307Ile)
c.1091A>T (p.Lys364Ile)
c.3206A>T (p.Lys1069Ile)
2g.26474640T>CCA346109368OTOFc.3161A>G (p.Lys1054Arg)
c.920A>G (p.Lys307Arg)
c.1091A>G (p.Lys364Arg)
c.3206A>G (p.Lys1069Arg)
gnomAD v4
2g.26474640T>GCA346109371OTOFc.3161A>C (p.Lys1054Thr)
c.920A>C (p.Lys307Thr)
c.1091A>C (p.Lys364Thr)
c.3206A>C (p.Lys1069Thr)
COSMIC COSMIC COSMIC
2g.26474641T>ACA346109374OTOFc.3160A>T (p.Lys1054Ter)
c.919A>T (p.Lys307Ter)
c.1090A>T (p.Lys364Ter)
c.3205A>T (p.Lys1069Ter)
2g.26474641T>CCA346109377OTOFc.3160A>G (p.Lys1054Glu)
c.919A>G (p.Lys307Glu)
c.1090A>G (p.Lys364Glu)
c.3205A>G (p.Lys1069Glu)
2g.26474641T>GCA346109378OTOFc.3160A>C (p.Lys1054Gln)
c.919A>C (p.Lys307Gln)
c.1090A>C (p.Lys364Gln)
c.3205A>C (p.Lys1069Gln)
2g.26474642G>ACA44397363OTOFc.3159C>T (p.Ala1053=)
c.918C>T (p.Ala306=)
c.1089C>T (p.Ala363=)
c.3204C>T (p.Ala1068=)
dbSNP
2g.26474642G>CCA425203860OTOFc.3159C>G (p.Ala1053=)
c.918C>G (p.Ala306=)
c.1089C>G (p.Ala363=)
c.3204C>G (p.Ala1068=)
2g.26474642G=CA1239826508OTOFc.3159C= (p.Ala1053=)
c.918C= (p.Ala306=)
c.1089C= (p.Ala363=)
c.3204C= (p.Ala1068=)
2g.26474642G>TCA425203857OTOFc.3159C>A (p.Ala1053=)
c.918C>A (p.Ala306=)
c.1089C>A (p.Ala363=)
c.3204C>A (p.Ala1068=)
2g.26474643delCA2576699360OTOFc.3159del (p.Lys1054AsnfsTer4)
c.918del (p.Lys307AsnfsTer4)
c.1089del (p.Lys364AsnfsTer4)
c.3204del (p.Lys1069AsnfsTer4)
ClinVar
2g.26474643G>ACA346109379OTOFc.3158C>T (p.Ala1053Val)
c.917C>T (p.Ala306Val)
c.1088C>T (p.Ala363Val)
c.3203C>T (p.Ala1068Val)
2g.26474643G>CCA346109380OTOFc.3158C>G (p.Ala1053Gly)
c.917C>G (p.Ala306Gly)
c.1088C>G (p.Ala363Gly)
c.3203C>G (p.Ala1068Gly)
2g.26474643G>TCA346109382OTOFc.3158C>A (p.Ala1053Asp)
c.917C>A (p.Ala306Asp)
c.1088C>A (p.Ala363Asp)
c.3203C>A (p.Ala1068Asp)
2g.26474644C>ACA346109385OTOFc.3157G>T (p.Ala1053Ser)
c.916G>T (p.Ala306Ser)
c.1087G>T (p.Ala363Ser)
c.3202G>T (p.Ala1068Ser)
2g.26474644C=CA1239826510OTOFc.3157G= (p.Ala1053=)
c.916G= (p.Ala306=)
c.1087G= (p.Ala363=)
c.3202G= (p.Ala1068=)
2g.26474644C>GCA346109388OTOFc.3157G>C (p.Ala1053Pro)
c.916G>C (p.Ala306Pro)
c.1087G>C (p.Ala363Pro)
c.3202G>C (p.Ala1068Pro)
2g.26474644C>TCA1563639OTOFc.3157G>A (p.Ala1053Thr)
c.916G>A (p.Ala306Thr)
c.1087G>A (p.Ala363Thr)
c.3202G>A (p.Ala1068Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26474645G>ACA142842OTOFc.3156C>T (p.Phe1052=)
c.915C>T (p.Phe305=)
c.1086C>T (p.Phe362=)
c.3201C>T (p.Phe1067=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26474645G>CCA346109394OTOFc.3156C>G (p.Phe1052Leu)
c.915C>G (p.Phe305Leu)
c.1086C>G (p.Phe362Leu)
c.3201C>G (p.Phe1067Leu)
2g.26474645G=CA1239826512OTOFc.3156C= (p.Phe1052=)
c.915C= (p.Phe305=)
c.1086C= (p.Phe362=)
c.3201C= (p.Phe1067=)
2g.26474645G>TCA346109390OTOFc.3156C>A (p.Phe1052Leu)
c.915C>A (p.Phe305Leu)
c.1086C>A (p.Phe362Leu)
c.3201C>A (p.Phe1067Leu)
2g.26474646A>CCA346109399OTOFc.3155T>G (p.Phe1052Cys)
c.914T>G (p.Phe305Cys)
c.1085T>G (p.Phe362Cys)
c.3200T>G (p.Phe1067Cys)
gnomAD v4
2g.26474646A>GCA346109400OTOFc.3155T>C (p.Phe1052Ser)
c.914T>C (p.Phe305Ser)
c.1085T>C (p.Phe362Ser)
c.3200T>C (p.Phe1067Ser)
2g.26474646A>TCA346109401OTOFc.3155T>A (p.Phe1052Tyr)
c.914T>A (p.Phe305Tyr)
c.1085T>A (p.Phe362Tyr)
c.3200T>A (p.Phe1067Tyr)
2g.26474647A>CCA346109403OTOFc.3154T>G (p.Phe1052Val)
c.913T>G (p.Phe305Val)
c.1084T>G (p.Phe362Val)
c.3199T>G (p.Phe1067Val)
2g.26474647A>GCA346109406OTOFc.3154T>C (p.Phe1052Leu)
c.913T>C (p.Phe305Leu)
c.1084T>C (p.Phe362Leu)
c.3199T>C (p.Phe1067Leu)
2g.26474647A>TCA346109408OTOFc.3154T>A (p.Phe1052Ile)
c.913T>A (p.Phe305Ile)
c.1084T>A (p.Phe362Ile)
c.3199T>A (p.Phe1067Ile)
gnomAD v4
2g.26474648G>ACA425203869OTOFc.3153C>T (p.Thr1051=)
c.912C>T (p.Thr304=)
c.1083C>T (p.Thr361=)
c.3198C>T (p.Thr1066=)
2g.26474648G>CCA425203870OTOFc.3153C>G (p.Thr1051=)
c.912C>G (p.Thr304=)
c.1083C>G (p.Thr361=)
c.3198C>G (p.Thr1066=)
gnomAD v4
2g.26474648G>TCA425203871OTOFc.3153C>A (p.Thr1051=)
c.912C>A (p.Thr304=)
c.1083C>A (p.Thr361=)
c.3198C>A (p.Thr1066=)
gnomAD v4
2g.26474649G>ACA346109412OTOFc.3152C>T (p.Thr1051Ile)
c.911C>T (p.Thr304Ile)
c.1082C>T (p.Thr361Ile)
c.3197C>T (p.Thr1066Ile)
2g.26474649G>CCA346109415OTOFc.3152C>G (p.Thr1051Ser)
c.911C>G (p.Thr304Ser)
c.1082C>G (p.Thr361Ser)
c.3197C>G (p.Thr1066Ser)
2g.26474649G=CA1239826515OTOFc.3152C= (p.Thr1051=)
c.911C= (p.Thr304=)
c.1082C= (p.Thr361=)
c.3197C= (p.Thr1066=)
2g.26474649G>TCA346109419OTOFc.3152C>A (p.Thr1051Asn)
c.911C>A (p.Thr304Asn)
c.1082C>A (p.Thr361Asn)
c.3197C>A (p.Thr1066Asn)
dbSNP gnomAD v4
2g.26474650T>ACA346109420OTOFc.3151A>T (p.Thr1051Ser)
c.910A>T (p.Thr304Ser)
c.1081A>T (p.Thr361Ser)
c.3196A>T (p.Thr1066Ser)
2g.26474650T>CCA346109421OTOFc.3151A>G (p.Thr1051Ala)
c.910A>G (p.Thr304Ala)
c.1081A>G (p.Thr361Ala)
c.3196A>G (p.Thr1066Ala)
gnomAD v4
2g.26474650T>GCA346109424OTOFc.3151A>C (p.Thr1051Pro)
c.910A>C (p.Thr304Pro)
c.1081A>C (p.Thr361Pro)
c.3196A>C (p.Thr1066Pro)
2g.26474651C>ACA425203875OTOFc.3150G>T (p.Arg1050=)
c.909G>T (p.Arg303=)
c.1080G>T (p.Arg360=)
c.3195G>T (p.Arg1065=)
ClinVar dbSNP gnomAD v4
2g.26474651C=CA1239826517OTOFc.3150G= (p.Arg1050=)
c.909G= (p.Arg303=)
c.1080G= (p.Arg360=)
c.3195G= (p.Arg1065=)
2g.26474651C>GCA425203876OTOFc.3150G>C (p.Arg1050=)
c.909G>C (p.Arg303=)
c.1080G>C (p.Arg360=)
c.3195G>C (p.Arg1065=)
2g.26474651C>TCA425203877OTOFc.3150G>A (p.Arg1050=)
c.909G>A (p.Arg303=)
c.1080G>A (p.Arg360=)
c.3195G>A (p.Arg1065=)
COSMIC COSMIC COSMIC
2g.26474652C>ACA346109432OTOFc.3149G>T (p.Arg1050Leu)
c.908G>T (p.Arg303Leu)
c.1079G>T (p.Arg360Leu)
c.3194G>T (p.Arg1065Leu)
gnomAD v4
2g.26474652C=CA1239826518OTOFc.3149G= (p.Arg1050=)
c.908G= (p.Arg303=)
c.1079G= (p.Arg360=)
c.3194G= (p.Arg1065=)
2g.26474652C>GCA346109428OTOFc.3149G>C (p.Arg1050Pro)
c.908G>C (p.Arg303Pro)
c.1079G>C (p.Arg360Pro)
c.3194G>C (p.Arg1065Pro)
2g.26474652C>TCA1563640OTOFc.3149G>A (p.Arg1050Gln)
c.908G>A (p.Arg303Gln)
c.1079G>A (p.Arg360Gln)
c.3194G>A (p.Arg1065Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.26474653G>ACA44397370OTOFc.3148C>T (p.Arg1050Trp)
c.907C>T (p.Arg303Trp)
c.1078C>T (p.Arg360Trp)
c.3193C>T (p.Arg1065Trp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26474653G>CCA346109437OTOFc.3148C>G (p.Arg1050Gly)
c.907C>G (p.Arg303Gly)
c.1078C>G (p.Arg360Gly)
c.3193C>G (p.Arg1065Gly)
2g.26474653G=CA1239826520OTOFc.3148C= (p.Arg1050=)
c.907C= (p.Arg303=)
c.1078C= (p.Arg360=)
c.3193C= (p.Arg1065=)
2g.26474653G>TCA425203880OTOFc.3148C>A (p.Arg1050=)
c.907C>A (p.Arg303=)
c.1078C>A (p.Arg360=)
c.3193C>A (p.Arg1065=)
2g.26474654G>ACA425203881OTOFc.3147C>T (p.Gly1049=)
c.906C>T (p.Gly302=)
c.1077C>T (p.Gly359=)
c.3192C>T (p.Gly1064=)
dbSNP gnomAD v3 gnomAD v4
2g.26474654G>CCA425203882OTOFc.3147C>G (p.Gly1049=)
c.906C>G (p.Gly302=)
c.1077C>G (p.Gly359=)
c.3192C>G (p.Gly1064=)
2g.26474654G=CA1239826522OTOFc.3147C= (p.Gly1049=)
c.906C= (p.Gly302=)
c.1077C= (p.Gly359=)
c.3192C= (p.Gly1064=)
2g.26474654G>TCA425203884OTOFc.3147C>A (p.Gly1049=)
c.906C>A (p.Gly302=)
c.1077C>A (p.Gly359=)
c.3192C>A (p.Gly1064=)
2g.26474655C>ACA346109441OTOFc.3146G>T (p.Gly1049Val)
c.905G>T (p.Gly302Val)
c.1076G>T (p.Gly359Val)
c.3191G>T (p.Gly1064Val)
2g.26474655C=CA1239826524OTOFc.3146G= (p.Gly1049=)
c.905G= (p.Gly302=)
c.1076G= (p.Gly359=)
c.3191G= (p.Gly1064=)
2g.26474655C>GCA346109444OTOFc.3146G>C (p.Gly1049Ala)
c.905G>C (p.Gly302Ala)
c.1076G>C (p.Gly359Ala)
c.3191G>C (p.Gly1064Ala)
2g.26474655C>TCA346109447OTOFc.3146G>A (p.Gly1049Asp)
c.905G>A (p.Gly302Asp)
c.1076G>A (p.Gly359Asp)
c.3191G>A (p.Gly1064Asp)
dbSNP gnomAD v4
2g.26474656C>ACA346109456OTOFc.3145G>T (p.Gly1049Cys)
c.904G>T (p.Gly302Cys)
c.1075G>T (p.Gly359Cys)
c.3190G>T (p.Gly1064Cys)
2g.26474656C>GCA346109453OTOFc.3145G>C (p.Gly1049Arg)
c.904G>C (p.Gly302Arg)
c.1075G>C (p.Gly359Arg)
c.3190G>C (p.Gly1064Arg)
gnomAD v4
2g.26474656C>TCA346109451OTOFc.3145G>A (p.Gly1049Ser)
c.904G>A (p.Gly302Ser)
c.1075G>A (p.Gly359Ser)
c.3190G>A (p.Gly1064Ser)
COSMIC COSMIC COSMIC
2g.26474657C>ACA346109461OTOFc.3144G>T (p.Met1048Ile)
c.903G>T (p.Met301Ile)
c.1074G>T (p.Met358Ile)
c.3189G>T (p.Met1063Ile)
2g.26474657C>GCA346109464OTOFc.3144G>C (p.Met1048Ile)
c.903G>C (p.Met301Ile)
c.1074G>C (p.Met358Ile)
c.3189G>C (p.Met1063Ile)
2g.26474657C>TCA346109467OTOFc.3144G>A (p.Met1048Ile)
c.903G>A (p.Met301Ile)
c.1074G>A (p.Met358Ile)
c.3189G>A (p.Met1063Ile)
2g.26474658A=CA1239826525OTOFc.3143T= (p.Met1048=)
c.902T= (p.Met301=)
c.1073T= (p.Met358=)
c.3188T= (p.Met1063=)
2g.26474658A>CCA346109470OTOFc.3143T>G (p.Met1048Arg)
c.902T>G (p.Met301Arg)
c.1073T>G (p.Met358Arg)
c.3188T>G (p.Met1063Arg)
2g.26474658A>GCA346109471OTOFc.3143T>C (p.Met1048Thr)
c.902T>C (p.Met301Thr)
c.1073T>C (p.Met358Thr)
c.3188T>C (p.Met1063Thr)
dbSNP
2g.26474658A>TCA346109472OTOFc.3143T>A (p.Met1048Lys)
c.902T>A (p.Met301Lys)
c.1073T>A (p.Met358Lys)
c.3188T>A (p.Met1063Lys)
2g.26474659T>ACA346109475OTOFc.3142A>T (p.Met1048Leu)
c.901A>T (p.Met301Leu)
c.1072A>T (p.Met358Leu)
c.3187A>T (p.Met1063Leu)
dbSNP gnomAD v2 gnomAD v4
2g.26474659T>CCA1563641OTOFc.3142A>G (p.Met1048Val)
c.901A>G (p.Met301Val)
c.1072A>G (p.Met358Val)
c.3187A>G (p.Met1063Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26474659T>GCA346109481OTOFc.3142A>C (p.Met1048Leu)
c.901A>C (p.Met301Leu)
c.1072A>C (p.Met358Leu)
c.3187A>C (p.Met1063Leu)
2g.26474659T=CA1239826527OTOFc.3142A= (p.Met1048=)
c.901A= (p.Met301=)
c.1072A= (p.Met358=)
c.3187A= (p.Met1063=)
2g.26474660G>ACA425203893OTOFc.3141C>T (p.Phe1047=)
c.900C>T (p.Phe300=)
c.1071C>T (p.Phe357=)
c.3186C>T (p.Phe1062=)
dbSNP
2g.26474660G>CCA346109484OTOFc.3141C>G (p.Phe1047Leu)
c.900C>G (p.Phe300Leu)
c.1071C>G (p.Phe357Leu)
c.3186C>G (p.Phe1062Leu)
2g.26474660G=CA1239826529OTOFc.3141C= (p.Phe1047=)
c.900C= (p.Phe300=)
c.1071C= (p.Phe357=)
c.3186C= (p.Phe1062=)
2g.26474660G>TCA1563642OTOFc.3141C>A (p.Phe1047Leu)
c.900C>A (p.Phe300Leu)
c.1071C>A (p.Phe357Leu)
c.3186C>A (p.Phe1062Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.26474661A>CCA346109486OTOFc.3140T>G (p.Phe1047Cys)
c.899T>G (p.Phe300Cys)
c.1070T>G (p.Phe357Cys)
c.3185T>G (p.Phe1062Cys)
2g.26474661A>GCA346109502OTOFc.3140T>C (p.Phe1047Ser)
c.899T>C (p.Phe300Ser)
c.1070T>C (p.Phe357Ser)
c.3185T>C (p.Phe1062Ser)
2g.26474661A>TCA346109505OTOFc.3140T>A (p.Phe1047Tyr)
c.899T>A (p.Phe300Tyr)
c.1070T>A (p.Phe357Tyr)
c.3185T>A (p.Phe1062Tyr)
2g.26474662A>CCA346109506OTOFc.3139T>G (p.Phe1047Val)
c.898T>G (p.Phe300Val)
c.1069T>G (p.Phe357Val)
c.3184T>G (p.Phe1062Val)
2g.26474662A>GCA346109510OTOFc.3139T>C (p.Phe1047Leu)
c.898T>C (p.Phe300Leu)
c.1069T>C (p.Phe357Leu)
c.3184T>C (p.Phe1062Leu)
2g.26474662A>TCA346109513OTOFc.3139T>A (p.Phe1047Ile)
c.898T>A (p.Phe300Ile)
c.1069T>A (p.Phe357Ile)
c.3184T>A (p.Phe1062Ile)
2g.26474663G>ACA425203898OTOFc.3138C>T (p.Asp1046=)
c.897C>T (p.Asp299=)
c.1068C>T (p.Asp356=)
c.3183C>T (p.Asp1061=)
dbSNP gnomAD v3 gnomAD v4
2g.26474663G>CCA346109514OTOFc.3138C>G (p.Asp1046Glu)
c.897C>G (p.Asp299Glu)
c.1068C>G (p.Asp356Glu)
c.3183C>G (p.Asp1061Glu)
2g.26474663G=CA1239826531OTOFc.3138C= (p.Asp1046=)
c.897C= (p.Asp299=)
c.1068C= (p.Asp356=)
c.3183C= (p.Asp1061=)
2g.26474663G>TCA346109515OTOFc.3138C>A (p.Asp1046Glu)
c.897C>A (p.Asp299Glu)
c.1068C>A (p.Asp356Glu)
c.3183C>A (p.Asp1061Glu)
gnomAD v4
2g.26474664T>ACA346109516OTOFc.3137A>T (p.Asp1046Val)
c.896A>T (p.Asp299Val)
c.1067A>T (p.Asp356Val)
c.3182A>T (p.Asp1061Val)
dbSNP gnomAD v2 gnomAD v4
2g.26474664T>CCA346109521OTOFc.3137A>G (p.Asp1046Gly)
c.896A>G (p.Asp299Gly)
c.1067A>G (p.Asp356Gly)
c.3182A>G (p.Asp1061Gly)
2g.26474664T>GCA346109518OTOFc.3137A>C (p.Asp1046Ala)
c.896A>C (p.Asp299Ala)
c.1067A>C (p.Asp356Ala)
c.3182A>C (p.Asp1061Ala)
2g.26474664T=CA1239826533OTOFc.3137A= (p.Asp1046=)
c.896A= (p.Asp299=)
c.1067A= (p.Asp356=)
c.3182A= (p.Asp1061=)
2g.26474665C>ACA346109526OTOFc.3136G>T (p.Asp1046Tyr)
c.895G>T (p.Asp299Tyr)
c.1066G>T (p.Asp356Tyr)
c.3181G>T (p.Asp1061Tyr)
gnomAD v4
2g.26474665C=CA1239826534OTOFc.3136G= (p.Asp1046=)
c.895G= (p.Asp299=)
c.1066G= (p.Asp356=)
c.3181G= (p.Asp1061=)
2g.26474665C>GCA346109534OTOFc.3136G>C (p.Asp1046His)
c.895G>C (p.Asp299His)
c.1066G>C (p.Asp356His)
c.3181G>C (p.Asp1061His)
2g.26474665C>TCA44397375OTOFc.3136G>A (p.Asp1046Asn)
c.895G>A (p.Asp299Asn)
c.1066G>A (p.Asp356Asn)
c.3181G>A (p.Asp1061Asn)
dbSNP gnomAD v3 gnomAD v4
2g.26474666A>CCA425203901OTOFc.3135T>G (p.Ala1045=)
c.894T>G (p.Ala298=)
c.1065T>G (p.Ala355=)
c.3180T>G (p.Ala1060=)
2g.26474666A>GCA425203903OTOFc.3135T>C (p.Ala1045=)
c.894T>C (p.Ala298=)
c.1065T>C (p.Ala355=)
c.3180T>C (p.Ala1060=)
2g.26474666A>TCA425203904OTOFc.3135T>A (p.Ala1045=)
c.894T>A (p.Ala298=)
c.1065T>A (p.Ala355=)
c.3180T>A (p.Ala1060=)
2g.26474667G>ACA346109535OTOFc.3134C>T (p.Ala1045Val)
c.893C>T (p.Ala298Val)
c.1064C>T (p.Ala355Val)
c.3179C>T (p.Ala1060Val)
gnomAD v4
2g.26474667G>CCA346109539OTOFc.3134C>G (p.Ala1045Gly)
c.893C>G (p.Ala298Gly)
c.1064C>G (p.Ala355Gly)
c.3179C>G (p.Ala1060Gly)
2g.26474667G>TCA346109537OTOFc.3134C>A (p.Ala1045Asp)
c.893C>A (p.Ala298Asp)
c.1064C>A (p.Ala355Asp)
c.3179C>A (p.Ala1060Asp)
gnomAD v4
2g.26474668C>ACA346109546OTOFc.3133G>T (p.Ala1045Ser)
c.892G>T (p.Ala298Ser)
c.1063G>T (p.Ala355Ser)
c.3178G>T (p.Ala1060Ser)
2g.26474668C>GCA346109550OTOFc.3133G>C (p.Ala1045Pro)
c.892G>C (p.Ala298Pro)
c.1063G>C (p.Ala355Pro)
c.3178G>C (p.Ala1060Pro)
2g.26474668C>TCA346109547OTOFc.3133G>A (p.Ala1045Thr)
c.892G>A (p.Ala298Thr)
c.1063G>A (p.Ala355Thr)
c.3178G>A (p.Ala1060Thr)
2g.26474669T>ACA346109553OTOFc.3132A>T (p.Lys1044Asn)
c.891A>T (p.Lys297Asn)
c.1062A>T (p.Lys354Asn)
c.3177A>T (p.Lys1059Asn)
2g.26474669T>CCA425203908OTOFc.3132A>G (p.Lys1044=)
c.891A>G (p.Lys297=)
c.1062A>G (p.Lys354=)
c.3177A>G (p.Lys1059=)
ClinVar gnomAD v4
2g.26474669T>GCA346109555OTOFc.3132A>C (p.Lys1044Asn)
c.891A>C (p.Lys297Asn)
c.1062A>C (p.Lys354Asn)
c.3177A>C (p.Lys1059Asn)
2g.26474670T>ACA346109558OTOFc.3131A>T (p.Lys1044Ile)
c.890A>T (p.Lys297Ile)
c.1061A>T (p.Lys354Ile)
c.3176A>T (p.Lys1059Ile)
2g.26474670T>CCA346109561OTOFc.3131A>G (p.Lys1044Arg)
c.890A>G (p.Lys297Arg)
c.1061A>G (p.Lys354Arg)
c.3176A>G (p.Lys1059Arg)
2g.26474670T>GCA346109560OTOFc.3131A>C (p.Lys1044Thr)
c.890A>C (p.Lys297Thr)
c.1061A>C (p.Lys354Thr)
c.3176A>C (p.Lys1059Thr)
2g.26474671T>ACA346109564OTOFc.3130A>T (p.Lys1044Ter)
c.889A>T (p.Lys297Ter)
c.1060A>T (p.Lys354Ter)
c.3175A>T (p.Lys1059Ter)
2g.26474671T>CCA346109565OTOFc.3130A>G (p.Lys1044Glu)
c.889A>G (p.Lys297Glu)
c.1060A>G (p.Lys354Glu)
c.3175A>G (p.Lys1059Glu)
2g.26474671T>GCA346109567OTOFc.3130A>C (p.Lys1044Gln)
c.889A>C (p.Lys297Gln)
c.1060A>C (p.Lys354Gln)
c.3175A>C (p.Lys1059Gln)
2g.26474672G>ACA425203909OTOFc.3129C>T (p.Gly1043=)
c.888C>T (p.Gly296=)
c.1059C>T (p.Gly353=)
c.3174C>T (p.Gly1058=)
2g.26474672G>CCA425203910OTOFc.3129C>G (p.Gly1043=)
c.888C>G (p.Gly296=)
c.1059C>G (p.Gly353=)
c.3174C>G (p.Gly1058=)
2g.26474672G>TCA425203911OTOFc.3129C>A (p.Gly1043=)
c.888C>A (p.Gly296=)
c.1059C>A (p.Gly353=)
c.3174C>A (p.Gly1058=)
ClinVar gnomAD v4
2g.26474673C>ACA346109570OTOFc.3128G>T (p.Gly1043Val)
c.887G>T (p.Gly296Val)
c.1058G>T (p.Gly353Val)
c.3173G>T (p.Gly1058Val)
gnomAD v4
2g.26474673C=CA1239826536OTOFc.3128G= (p.Gly1043=)
c.887G= (p.Gly296=)
c.1058G= (p.Gly353=)
c.3173G= (p.Gly1058=)
2g.26474673C>GCA346109572OTOFc.3128G>C (p.Gly1043Ala)
c.887G>C (p.Gly296Ala)
c.1058G>C (p.Gly353Ala)
c.3173G>C (p.Gly1058Ala)
2g.26474673C>TCA346109575OTOFc.3128G>A (p.Gly1043Asp)
c.887G>A (p.Gly296Asp)
c.1058G>A (p.Gly353Asp)
c.3173G>A (p.Gly1058Asp)
dbSNP gnomAD v3 gnomAD v4
2g.26474674C>ACA346109578OTOFc.3127G>T (p.Gly1043Cys)
c.886G>T (p.Gly296Cys)
c.1057G>T (p.Gly353Cys)
c.3172G>T (p.Gly1058Cys)
2g.26474674C>GCA346109580OTOFc.3127G>C (p.Gly1043Arg)
c.886G>C (p.Gly296Arg)
c.1057G>C (p.Gly353Arg)
c.3172G>C (p.Gly1058Arg)
2g.26474674C>TCA346109581OTOFc.3127G>A (p.Gly1043Ser)
c.886G>A (p.Gly296Ser)
c.1057G>A (p.Gly353Ser)
c.3172G>A (p.Gly1058Ser)
gnomAD v4
2g.26474675C>ACA346109583OTOFc.3127-1G>T (n.3127-1G>T)
c.886-1G>T (n.886-1G>T)
c.1057-1G>T (n.1057-1G>T)
c.3172-1G>T (n.3172-1G>T)
2g.26474675C>GCA346109585OTOFc.3127-1G>C (n.3127-1G>C)
c.886-1G>C (n.886-1G>C)
c.1057-1G>C (n.1057-1G>C)
c.3172-1G>C (n.3172-1G>C)
2g.26474675C>TCA346109587OTOFc.3127-1G>A (n.3127-1G>A)
c.886-1G>A (n.886-1G>A)
c.1057-1G>A (n.1057-1G>A)
c.3172-1G>A (n.3172-1G>A)
gnomAD v4
2g.26474676T>ACA346109591OTOFc.3127-2A>T (n.3127-2A>T)
c.886-2A>T (n.886-2A>T)
c.1057-2A>T (n.1057-2A>T)
c.3172-2A>T (n.3172-2A>T)
2g.26474676T>CCA346109595OTOFc.3127-2A>G (n.3127-2A>G)
c.886-2A>G (n.886-2A>G)
c.1057-2A>G (n.1057-2A>G)
c.3172-2A>G (n.3172-2A>G)
2g.26474676T>GCA346109593OTOFc.3127-2A>C (n.3127-2A>C)
c.886-2A>C (n.886-2A>C)
c.1057-2A>C (n.1057-2A>C)
c.3172-2A>C (n.3172-2A>C)
2g.26474679C>ACA425203914OTOFc.3127-5G>T (n.3127-5G>T)
c.886-5G>T (n.886-5G>T)
c.1057-5G>T (n.1057-5G>T)
c.3172-5G>T (n.3172-5G>T)
2g.26474679C=CA1239826538OTOFc.3127-5G= (n.3127-5G=)
c.886-5G= (n.886-5G=)
c.1057-5G= (n.1057-5G=)
c.3172-5G= (n.3172-5G=)
2g.26474679C>GCA531761960OTOFc.3127-5G>C (n.3127-5G>C)
c.886-5G>C (n.886-5G>C)
c.1057-5G>C (n.1057-5G>C)
c.3172-5G>C (n.3172-5G>C)
dbSNP gnomAD v2 gnomAD v4
2g.26474679C>TCA1563643OTOFc.3127-5G>A (n.3127-5G>A)
c.886-5G>A (n.886-5G>A)
c.1057-5G>A (n.1057-5G>A)
c.3172-5G>A (n.3172-5G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26474680G>ACA1563645OTOFc.3127-6C>T (n.3127-6C>T)
c.886-6C>T (n.886-6C>T)
c.1057-6C>T (n.1057-6C>T)
c.3172-6C>T (n.3172-6C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26474680G=CA1239826540OTOFc.3127-6C= (n.3127-6C=)
c.886-6C= (n.886-6C=)
c.1057-6C= (n.1057-6C=)
c.3172-6C= (n.3172-6C=)
2g.26474680G>TCA1563644OTOFc.3127-6C>A (n.3127-6C>A)
c.886-6C>A (n.886-6C>A)
c.1057-6C>A (n.1057-6C>A)
c.3172-6C>A (n.3172-6C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.26474682A=CA1239826542OTOFc.3127-8T= (n.3127-8T=)
c.886-8T= (n.886-8T=)
c.1057-8T= (n.1057-8T=)
c.3172-8T= (n.3172-8T=)
2g.26474682A>TCA1239826541OTOFc.3127-8T>A (n.3127-8T>A)
c.886-8T>A (n.886-8T>A)
c.1057-8T>A (n.1057-8T>A)
c.3172-8T>A (n.3172-8T>A)
dbSNP
2g.26474683A=CA1239826543OTOFc.3127-9T= (n.3127-9T=)
c.886-9T= (n.886-9T=)
c.1057-9T= (n.1057-9T=)
c.3172-9T= (n.3172-9T=)
2g.26474683A>CCA2749240728OTOFc.3127-9T>G (n.3127-9T>G)
c.886-9T>G (n.886-9T>G)
c.1057-9T>G (n.1057-9T>G)
c.3172-9T>G (n.3172-9T>G)
2g.26474683A>GCA531761963OTOFc.3127-9T>C (n.3127-9T>C)
c.886-9T>C (n.886-9T>C)
c.1057-9T>C (n.1057-9T>C)
c.3172-9T>C (n.3172-9T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26474684C>ACA767276525OTOFc.3127-10G>T (n.3127-10G>T)
c.886-10G>T (n.886-10G>T)
c.1057-10G>T (n.1057-10G>T)
c.3172-10G>T (n.3172-10G>T)
dbSNP
2g.26474684C=CA1239826545OTOFc.3127-10G= (n.3127-10G=)
c.886-10G= (n.886-10G=)
c.1057-10G= (n.1057-10G=)
c.3172-10G= (n.3172-10G=)
2g.26474684C>GCA2739274220OTOFc.3127-10G>C (n.3127-10G>C)
c.886-10G>C (n.886-10G>C)
c.1057-10G>C (n.1057-10G>C)
c.3172-10G>C (n.3172-10G>C)
ClinVar
2g.26474686G>ACA2658236642OTOFc.3127-12C>T (n.3127-12C>T)
c.886-12C>T (n.886-12C>T)
c.1057-12C>T (n.1057-12C>T)
c.3172-12C>T (n.3172-12C>T)
gnomAD v4
2g.26474687A>GCA2576699361OTOFc.3127-13T>C (n.3127-13T>C)
c.886-13T>C (n.886-13T>C)
c.1057-13T>C (n.1057-13T>C)
c.3172-13T>C (n.3172-13T>C)
2g.26474688C>ACA1563646OTOFc.3127-14G>T (n.3127-14G>T)
c.886-14G>T (n.886-14G>T)
c.1057-14G>T (n.1057-14G>T)
c.3172-14G>T (n.3172-14G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.26474688C=CA1239826547OTOFc.3127-14G= (n.3127-14G=)
c.886-14G= (n.886-14G=)
c.1057-14G= (n.1057-14G=)
c.3172-14G= (n.3172-14G=)
2g.26474688C>TCA2658236643OTOFc.3127-14G>A (n.3127-14G>A)
c.886-14G>A (n.886-14G>A)
c.1057-14G>A (n.1057-14G>A)
c.3172-14G>A (n.3172-14G>A)
gnomAD v4
2g.26474691C>TCA2658236644OTOFc.3127-17G>A (n.3127-17G>A)
c.886-17G>A (n.886-17G>A)
c.1057-17G>A (n.1057-17G>A)
c.3172-17G>A (n.3172-17G>A)
gnomAD v4
2g.26474692C>TCA2658236645OTOFc.3127-18G>A (n.3127-18G>A)
c.886-18G>A (n.886-18G>A)
c.1057-18G>A (n.1057-18G>A)
c.3172-18G>A (n.3172-18G>A)
gnomAD v4
2g.26474693C>ACA2658236646OTOFc.3127-19G>T (n.3127-19G>T)
c.886-19G>T (n.886-19G>T)
c.1057-19G>T (n.1057-19G>T)
c.3172-19G>T (n.3172-19G>T)
gnomAD v4
2g.26474694A>GCA2658236647OTOFc.3127-20T>C (n.3127-20T>C)
c.886-20T>C (n.886-20T>C)
c.1057-20T>C (n.1057-20T>C)
c.3172-20T>C (n.3172-20T>C)
gnomAD v4
2g.26474695G>ACA1563647OTOFc.3127-21C>T (n.3127-21C>T)
c.886-21C>T (n.886-21C>T)
c.1057-21C>T (n.1057-21C>T)
c.3172-21C>T (n.3172-21C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26474695G=CA1239826549OTOFc.3127-21C= (n.3127-21C=)
c.886-21C= (n.886-21C=)
c.1057-21C= (n.1057-21C=)
c.3172-21C= (n.3172-21C=)
2g.26474699C=CA1239826551OTOFc.3127-25G= (n.3127-25G=)
c.886-25G= (n.886-25G=)
c.1057-25G= (n.1057-25G=)
c.3172-25G= (n.3172-25G=)
2g.26474699C>TCA1028610918OTOFc.3127-25G>A (n.3127-25G>A)
c.886-25G>A (n.886-25G>A)
c.1057-25G>A (n.1057-25G>A)
c.3172-25G>A (n.3172-25G>A)
dbSNP gnomAD v3 gnomAD v4
2g.26474700C=CA1239826552OTOFc.3127-26G= (n.3127-26G=)
c.886-26G= (n.886-26G=)
c.1057-26G= (n.1057-26G=)
c.3172-26G= (n.3172-26G=)
2g.26474700C>GCA1563649OTOFc.3127-26G>C (n.3127-26G>C)
c.886-26G>C (n.886-26G>C)
c.1057-26G>C (n.1057-26G>C)
c.3172-26G>C (n.3172-26G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26474700C>TCA2576699362OTOFc.3127-26G>A (n.3127-26G>A)
c.886-26G>A (n.886-26G>A)
c.1057-26G>A (n.1057-26G>A)
c.3172-26G>A (n.3172-26G>A)
2g.26474701T>CCA2576699363OTOFc.3127-27A>G (n.3127-27A>G)
c.886-27A>G (n.886-27A>G)
c.1057-27A>G (n.1057-27A>G)
c.3172-27A>G (n.3172-27A>G)
2g.26474701dupCA1563648OTOFc.3127-27dup (n.3127-27dup)
c.886-27dup (n.886-27dup)
c.1057-27dup (n.1057-27dup)
c.3172-27dup (n.3172-27dup)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26474702C=CA1239826553OTOFc.3127-28G= (n.3127-28G=)
c.886-28G= (n.886-28G=)
c.1057-28G= (n.1057-28G=)
c.3172-28G= (n.3172-28G=)
2g.26474702C>TCA1563650OTOFc.3127-28G>A (n.3127-28G>A)
c.886-28G>A (n.886-28G>A)
c.1057-28G>A (n.1057-28G>A)
c.3172-28G>A (n.3172-28G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.26474704T>CCA2658236648OTOFc.3127-30A>G (n.3127-30A>G)
c.886-30A>G (n.886-30A>G)
c.1057-30A>G (n.1057-30A>G)
c.3172-30A>G (n.3172-30A>G)
gnomAD v4
2g.26474705G>TCA2658236649OTOFc.3127-31C>A (n.3127-31C>A)
c.886-31C>A (n.886-31C>A)
c.1057-31C>A (n.1057-31C>A)
c.3172-31C>A (n.3172-31C>A)
gnomAD v4
2g.26474707T>ACA2658236650OTOFc.3127-33A>T (n.3127-33A>T)
c.886-33A>T (n.886-33A>T)
c.1057-33A>T (n.1057-33A>T)
c.3172-33A>T (n.3172-33A>T)
gnomAD v4
2g.26474709C>TCA2658236651OTOFc.3127-35G>A (n.3127-35G>A)
c.886-35G>A (n.886-35G>A)
c.1057-35G>A (n.1057-35G>A)
c.3172-35G>A (n.3172-35G>A)
gnomAD v4
2g.26474710T>CCA2658236652OTOFc.3127-36A>G (n.3127-36A>G)
c.886-36A>G (n.886-36A>G)
c.1057-36A>G (n.1057-36A>G)
c.3172-36A>G (n.3172-36A>G)
gnomAD v4
2g.26474711T>GCA2658236653OTOFc.3127-37A>C (n.3127-37A>C)
c.886-37A>C (n.886-37A>C)
c.1057-37A>C (n.1057-37A>C)
c.3172-37A>C (n.3172-37A>C)
gnomAD v4
2g.26474712delCA2576699364OTOFc.3127-38del (n.3127-38del)
c.886-38del (n.886-38del)
c.1057-38del (n.1057-38del)
c.3172-38del (n.3172-38del)
2g.26474712G>ACA531761969OTOFc.3127-38C>T (n.3127-38C>T)
c.886-38C>T (n.886-38C>T)
c.1057-38C>T (n.1057-38C>T)
c.3172-38C>T (n.3172-38C>T)
dbSNP gnomAD v2 gnomAD v4
2g.26474712G=CA1239826556OTOFc.3127-38C= (n.3127-38C=)
c.886-38C= (n.886-38C=)
c.1057-38C= (n.1057-38C=)
c.3172-38C= (n.3172-38C=)
2g.26474713C>ACA2658236655OTOFc.3127-39G>T (n.3127-39G>T)
c.886-39G>T (n.886-39G>T)
c.1057-39G>T (n.1057-39G>T)
c.3172-39G>T (n.3172-39G>T)
gnomAD v4
2g.26474713C>TCA2658236654OTOFc.3127-39G>A (n.3127-39G>A)
c.886-39G>A (n.886-39G>A)
c.1057-39G>A (n.1057-39G>A)
c.3172-39G>A (n.3172-39G>A)
gnomAD v4
2g.26474714T>CCA1563651OTOFc.3127-40A>G (n.3127-40A>G)
c.886-40A>G (n.886-40A>G)
c.1057-40A>G (n.1057-40A>G)
c.3172-40A>G (n.3172-40A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.26474714T=CA1239826557OTOFc.3127-40A= (n.3127-40A=)
c.886-40A= (n.886-40A=)
c.1057-40A= (n.1057-40A=)
c.3172-40A= (n.3172-40A=)
2g.26474715G>ACA2749240729OTOFc.3127-41C>T (n.3127-41C>T)
c.886-41C>T (n.886-41C>T)
c.1057-41C>T (n.1057-41C>T)
c.3172-41C>T (n.3172-41C>T)
2g.26474715G>TCA2658236656OTOFc.3127-41C>A (n.3127-41C>A)
c.886-41C>A (n.886-41C>A)
c.1057-41C>A (n.1057-41C>A)
c.3172-41C>A (n.3172-41C>A)
gnomAD v4
2g.26474717C>TCA2658236657OTOFc.3127-43G>A (n.3127-43G>A)
c.886-43G>A (n.886-43G>A)
c.1057-43G>A (n.1057-43G>A)
c.3172-43G>A (n.3172-43G>A)
gnomAD v4
2g.26474718C>ACA2658236658OTOFc.3127-44G>T (n.3127-44G>T)
c.886-44G>T (n.886-44G>T)
c.1057-44G>T (n.1057-44G>T)
c.3172-44G>T (n.3172-44G>T)
gnomAD v4
2g.26474718C=CA1239826558OTOFc.3127-44G= (n.3127-44G=)
c.886-44G= (n.886-44G=)
c.1057-44G= (n.1057-44G=)
c.3172-44G= (n.3172-44G=)
2g.26474718C>TCA1239826559OTOFc.3127-44G>A (n.3127-44G>A)
c.886-44G>A (n.886-44G>A)
c.1057-44G>A (n.1057-44G>A)
c.3172-44G>A (n.3172-44G>A)
dbSNP gnomAD v4
2g.26474720C>ACA767276534OTOFc.3127-46G>T (n.3127-46G>T)
c.886-46G>T (n.886-46G>T)
c.1057-46G>T (n.1057-46G>T)
c.3172-46G>T (n.3172-46G>T)
dbSNP gnomAD v3 gnomAD v4
2g.26474720C=CA1239826560OTOFc.3127-46G= (n.3127-46G=)
c.886-46G= (n.886-46G=)
c.1057-46G= (n.1057-46G=)
c.3172-46G= (n.3172-46G=)
2g.26474722C>ACA1563652OTOFc.3127-48G>T (n.3127-48G>T)
c.886-48G>T (n.886-48G>T)
c.1057-48G>T (n.1057-48G>T)
c.3172-48G>T (n.3172-48G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26474722C=CA1239826562OTOFc.3127-48G= (n.3127-48G=)
c.886-48G= (n.886-48G=)
c.1057-48G= (n.1057-48G=)
c.3172-48G= (n.3172-48G=)
2g.26474723C=CA1239826563OTOFc.3127-49G= (n.3127-49G=)
c.886-49G= (n.886-49G=)
c.1057-49G= (n.1057-49G=)
c.3172-49G= (n.3172-49G=)
2g.26474723C>GCA767276538OTOFc.3127-49G>C (n.3127-49G>C)
c.886-49G>C (n.886-49G>C)
c.1057-49G>C (n.1057-49G>C)
c.3172-49G>C (n.3172-49G>C)
dbSNP gnomAD v4
2g.26474724T>CCA2576699365OTOFc.3127-50A>G (n.3127-50A>G)
c.886-50A>G (n.886-50A>G)
c.1057-50A>G (n.1057-50A>G)
c.3172-50A>G (n.3172-50A>G)
gnomAD v4

Number of alleles fetched