| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.132908202G>A | CA463011564 | TG | c.3864G>A (p.Gln1288=) c.519G>A c.3603G>A (p.Gln1201=) | |
| 8 | g.132908202G>C | CA372243810 | TG | c.3864G>C (p.Gln1288His) c.519G>C c.3603G>C (p.Gln1201His) | |
| 8 | g.132908202G>T | CA372243811 | TG | c.3864G>T (p.Gln1288His) c.519G>T c.3603G>T (p.Gln1201His) | gnomAD v4 |
| 8 | g.132908203A= | CA1821000205 | TG | c.3865A= (p.Thr1289=) c.520A= c.3604A= (p.Thr1202=) | |
| 8 | g.132908203A>C | CA372243812 | TG | c.3865A>C (p.Thr1289Pro) c.520A>C c.3604A>C (p.Thr1202Pro) | |
| 8 | g.132908203A>G | CA372243814 | TG | c.3865A>G (p.Thr1289Ala) c.520A>G c.3604A>G (p.Thr1202Ala) | dbSNP gnomAD v4 |
| 8 | g.132908203A>T | CA372243813 | TG | c.3865A>T (p.Thr1289Ser) c.520A>T c.3604A>T (p.Thr1202Ser) | |
| 8 | g.132908204C>A | CA372243815 | TG | c.3866C>A (p.Thr1289Asn) c.521C>A c.3605C>A (p.Thr1202Asn) | |
| 8 | g.132908204C= | CA1821000206 | TG | c.3866C= (p.Thr1289=) c.521C= c.3605C= (p.Thr1202=) | |
| 8 | g.132908204C>G | CA372243816 | TG | c.3866C>G (p.Thr1289Ser) c.521C>G c.3605C>G (p.Thr1202Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132908204C>T | CA372243817 | TG | c.3866C>T (p.Thr1289Ile) c.521C>T c.3605C>T (p.Thr1202Ile) | dbSNP gnomAD v2 |
| 8 | g.132908205C>A | CA463011568 | TG | c.3867C>A (p.Thr1289=) c.522C>A c.3606C>A (p.Thr1202=) | |
| 8 | g.132908205C= | CA1821000207 | TG | c.3867C= (p.Thr1289=) c.522C= c.3606C= (p.Thr1202=) | |
| 8 | g.132908205C>G | CA463011569 | TG | c.3867C>G (p.Thr1289=) c.522C>G c.3606C>G (p.Thr1202=) | |
| 8 | g.132908205C>T | CA4883930 | TG | c.3867C>T (p.Thr1289=) c.522C>T c.3606C>T (p.Thr1202=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908206A>C | CA372243818 | TG | c.3868A>C (p.Ile1290Leu) c.523A>C c.3607A>C (p.Ile1203Leu) | |
| 8 | g.132908206A>G | CA372243819 | TG | c.3868A>G (p.Ile1290Val) c.523A>G c.3607A>G (p.Ile1203Val) | gnomAD v4 |
| 8 | g.132908206A>T | CA372243820 | TG | c.3868A>T (p.Ile1290Phe) c.523A>T c.3607A>T (p.Ile1203Phe) | |
| 8 | g.132908207T>A | CA372243821 | TG | c.3869T>A (p.Ile1290Asn) c.524T>A c.3608T>A (p.Ile1203Asn) | gnomAD v4 |
| 8 | g.132908207T>C | CA372243822 | TG | c.3869T>C (p.Ile1290Thr) c.524T>C c.3608T>C (p.Ile1203Thr) | |
| 8 | g.132908207T>G | CA372243823 | TG | c.3869T>G (p.Ile1290Ser) c.524T>G c.3608T>G (p.Ile1203Ser) | |
| 8 | g.132908208C>A | CA463011570 | TG | c.3870C>A (p.Ile1290=) c.525C>A c.3609C>A (p.Ile1203=) | ClinVar |
| 8 | g.132908208C>G | CA372243824 | TG | c.3870C>G (p.Ile1290Met) c.525C>G c.3609C>G (p.Ile1203Met) | dbSNP |
| 8 | g.132908208C>T | CA463011571 | TG | c.3870C>T (p.Ile1290=) c.525C>T c.3609C>T (p.Ile1203=) | |
| 8 | g.132908209C>A | CA372243827 | TG | c.3871C>A (p.Gln1291Lys) c.526C>A c.3610C>A (p.Gln1204Lys) | |
| 8 | g.132908209C= | CA1821000208 | TG | c.3871C= (p.Gln1291=) c.526C= c.3610C= (p.Gln1204=) | |
| 8 | g.132908209C>G | CA372243825 | TG | c.3871C>G (p.Gln1291Glu) c.526C>G c.3610C>G (p.Gln1204Glu) | |
| 8 | g.132908209C>T | CA372243826 | TG | c.3871C>T (p.Gln1291Ter) c.526C>T c.3610C>T (p.Gln1204Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132908210A= | CA1821000209 | TG | c.3872A= (p.Gln1291=) c.527A= c.3611A= (p.Gln1204=) | |
| 8 | g.132908210A>C | CA372243828 | TG | c.3872A>C (p.Gln1291Pro) c.527A>C c.3611A>C (p.Gln1204Pro) | |
| 8 | g.132908210A>G | CA372243829 | TG | c.3872A>G (p.Gln1291Arg) c.527A>G c.3611A>G (p.Gln1204Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132908210A>T | CA372243830 | TG | c.3872A>T (p.Gln1291Leu) c.527A>T c.3611A>T (p.Gln1204Leu) | |
| 8 | g.132908211G>A | CA463011572 | TG | c.3873G>A (p.Gln1291=) c.528G>A c.3612G>A (p.Gln1204=) | |
| 8 | g.132908211G>C | CA372243831 | TG | c.3873G>C (p.Gln1291His) c.528G>C c.3612G>C (p.Gln1204His) | |
| 8 | g.132908211G= | CA1821000211 | TG | c.3873G= (p.Gln1291=) c.528G= c.3612G= (p.Gln1204=) | |
| 8 | g.132908211G>T | CA186300706 | TG | c.3873G>T (p.Gln1291His) c.528G>T c.3612G>T (p.Gln1204His) | dbSNP |
| 8 | g.132908212A= | CA1821000213 | TG | c.3874A= (p.Thr1292=) c.529A= c.3613A= (p.Thr1205=) | |
| 8 | g.132908212A>C | CA372243832 | TG | c.3874A>C (p.Thr1292Pro) c.529A>C c.3613A>C (p.Thr1205Pro) | |
| 8 | g.132908212A>G | CA372243833 | TG | c.3874A>G (p.Thr1292Ala) c.529A>G c.3613A>G (p.Thr1205Ala) | dbSNP |
| 8 | g.132908212A>T | CA372243834 | TG | c.3874A>T (p.Thr1292Ser) c.529A>T c.3613A>T (p.Thr1205Ser) | |
| 8 | g.132908213C>A | CA372243835 | TG | c.3875C>A (p.Thr1292Asn) c.530C>A c.3614C>A (p.Thr1205Asn) | dbSNP gnomAD v2 |
| 8 | g.132908213C= | CA1821000214 | TG | c.3875C= (p.Thr1292=) c.530C= c.3614C= (p.Thr1205=) | |
| 8 | g.132908213C>G | CA372243837 | TG | c.3875C>G (p.Thr1292Ser) c.530C>G c.3614C>G (p.Thr1205Ser) | |
| 8 | g.132908213C>T | CA372243836 | TG | c.3875C>T (p.Thr1292Ile) c.530C>T c.3614C>T (p.Thr1205Ile) | |
| 8 | g.132908214C>A | CA463011573 | TG | c.3876C>A (p.Thr1292=) c.531C>A c.3615C>A (p.Thr1205=) | gnomAD v4 |
| 8 | g.132908214C= | CA1821000216 | TG | c.3876C= (p.Thr1292=) c.531C= c.3615C= (p.Thr1205=) | |
| 8 | g.132908214C>G | CA463011574 | TG | c.3876C>G (p.Thr1292=) c.531C>G c.3615C>G (p.Thr1205=) | |
| 8 | g.132908214C>T | CA4883931 | TG | c.3876C>T (p.Thr1292=) c.531C>T c.3615C>T (p.Thr1205=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.132908215C>A | CA372243838 | TG | c.3877C>A (p.Gln1293Lys) c.532C>A c.3616C>A (p.Gln1206Lys) | |
| 8 | g.132908215C>G | CA372243839 | TG | c.3877C>G (p.Gln1293Glu) c.532C>G c.3616C>G (p.Gln1206Glu) | |
| 8 | g.132908215C>T | CA372243840 | TG | c.3877C>T (p.Gln1293Ter) c.532C>T c.3616C>T (p.Gln1206Ter) | |
| 8 | g.132908216A= | CA1821000219 | TG | c.3878A= (p.Gln1293=) c.533A= c.3617A= (p.Gln1206=) | |
| 8 | g.132908216A>C | CA372243841 | TG | c.3878A>C (p.Gln1293Pro) c.533A>C c.3617A>C (p.Gln1206Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132908216A>G | CA372243843 | TG | c.3878A>G (p.Gln1293Arg) c.533A>G c.3617A>G (p.Gln1206Arg) | |
| 8 | g.132908216A>T | CA372243842 | TG | c.3878A>T (p.Gln1293Leu) c.533A>T c.3617A>T (p.Gln1206Leu) | |
| 8 | g.132908217A= | CA1821000220 | TG | c.3879A= (p.Gln1293=) c.534A= c.3618A= (p.Gln1206=) | |
| 8 | g.132908217A>C | CA372243844 | TG | c.3879A>C (p.Gln1293His) c.534A>C c.3618A>C (p.Gln1206His) | |
| 8 | g.132908217A>G | CA463011575 | TG | c.3879A>G (p.Gln1293=) c.534A>G c.3618A>G (p.Gln1206=) | ClinVar |
| 8 | g.132908217A>T | CA186300718 | TG | c.3879A>T (p.Gln1293His) c.534A>T c.3618A>T (p.Gln1206His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908218G>A | CA372243845 | TG | c.3880G>A (p.Gly1294Arg) c.535G>A c.3619G>A (p.Gly1207Arg) | gnomAD v4 |
| 8 | g.132908218G>C | CA372243846 | TG | c.3880G>C (p.Gly1294Arg) c.535G>C c.3619G>C (p.Gly1207Arg) | |
| 8 | g.132908218G>T | CA372243847 | TG | c.3880G>T (p.Gly1294Trp) c.535G>T c.3619G>T (p.Gly1207Trp) | |
| 8 | g.132908219G>A | CA372243848 | TG | c.3881G>A (p.Gly1294Glu) c.536G>A c.3620G>A (p.Gly1207Glu) | |
| 8 | g.132908219G>C | CA372243849 | TG | c.3881G>C (p.Gly1294Ala) c.536G>C c.3620G>C (p.Gly1207Ala) | |
| 8 | g.132908219G= | CA1821000221 | TG | c.3881G= (p.Gly1294=) c.536G= c.3620G= (p.Gly1207=) | |
| 8 | g.132908219G>T | CA4883932 | TG | c.3881G>T (p.Gly1294Val) c.536G>T c.3620G>T (p.Gly1207Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132908220G>A | CA463011578 | TG | c.3882G>A (p.Gly1294=) c.537G>A c.3621G>A (p.Gly1207=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908220G>C | CA463011577 | TG | c.3882G>C (p.Gly1294=) c.537G>C c.3621G>C (p.Gly1207=) | |
| 8 | g.132908220G= | CA1821000223 | TG | c.3882G= (p.Gly1294=) c.537G= c.3621G= (p.Gly1207=) | |
| 8 | g.132908220G>T | CA463011576 | TG | c.3882G>T (p.Gly1294=) c.537G>T c.3621G>T (p.Gly1207=) | |
| 8 | g.132908221C>A | CA372243850 | TG | c.3883C>A (p.His1295Asn) c.538C>A c.3622C>A (p.His1208Asn) | |
| 8 | g.132908221C= | CA1821000225 | TG | c.3883C= (p.His1295=) c.538C= c.3622C= (p.His1208=) | |
| 8 | g.132908221C>G | CA372243851 | TG | c.3883C>G (p.His1295Asp) c.538C>G c.3622C>G (p.His1208Asp) | |
| 8 | g.132908221C>T | CA4883933 | TG | c.3883C>T (p.His1295Tyr) c.538C>T c.3622C>T (p.His1208Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908222A= | CA1821000228 | TG | c.3884A= (p.His1295=) c.539A= c.3623A= (p.His1208=) | |
| 8 | g.132908222A>C | CA372243853 | TG | c.3884A>C (p.His1295Pro) c.539A>C c.3623A>C (p.His1208Pro) | |
| 8 | g.132908222A>G | CA4883934 | TG | c.3884A>G (p.His1295Arg) c.539A>G c.3623A>G (p.His1208Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908222A>T | CA372243852 | TG | c.3884A>T (p.His1295Leu) c.539A>T c.3623A>T (p.His1208Leu) | |
| 8 | g.132908223C>A | CA372243854 | TG | c.3885C>A (p.His1295Gln) c.540C>A c.3624C>A (p.His1208Gln) | |
| 8 | g.132908223C= | CA1821000230 | TG | c.3885C= (p.His1295=) c.540C= c.3624C= (p.His1208=) | |
| 8 | g.132908223C>G | CA4883935 | TG | c.3885C>G (p.His1295Gln) c.540C>G c.3624C>G (p.His1208Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132908223C>T | CA463011579 | TG | c.3885C>T (p.His1295=) c.540C>T c.3624C>T (p.His1208=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908224T>A | CA174439 | TG | c.3886T>A (p.Phe1296Ile) c.541T>A c.3625T>A (p.Phe1209Ile) | ClinVar dbSNP COSMIC |
| 8 | g.132908224T>C | CA372243855 | TG | c.3886T>C (p.Phe1296Leu) c.541T>C c.3625T>C (p.Phe1209Leu) | |
| 8 | g.132908224T>G | CA372243856 | TG | c.3886T>G (p.Phe1296Val) c.541T>G c.3625T>G (p.Phe1209Val) | |
| 8 | g.132908224T= | CA1821000232 | TG | c.3886T= (p.Phe1296=) c.541T= c.3625T= (p.Phe1209=) | |
| 8 | g.132908225T>A | CA372243857 | TG | c.3887T>A (p.Phe1296Tyr) c.542T>A c.3626T>A (p.Phe1209Tyr) | |
| 8 | g.132908225T>C | CA372243858 | TG | c.3887T>C (p.Phe1296Ser) c.542T>C c.3626T>C (p.Phe1209Ser) | dbSNP |
| 8 | g.132908225T>G | CA372243859 | TG | c.3887T>G (p.Phe1296Cys) c.542T>G c.3626T>G (p.Phe1209Cys) | |
| 8 | g.132908225T= | CA1821000233 | TG | c.3887T= (p.Phe1296=) c.542T= c.3626T= (p.Phe1209=) | |
| 8 | g.132908226T>A | CA372243860 | TG | c.3888T>A (p.Phe1296Leu) c.543T>A c.3627T>A (p.Phe1209Leu) | |
| 8 | g.132908226T>C | CA463011580 | TG | c.3888T>C (p.Phe1296=) c.543T>C c.3627T>C (p.Phe1209=) | |
| 8 | g.132908226T>G | CA372243861 | TG | c.3888T>G (p.Phe1296Leu) c.543T>G c.3627T>G (p.Phe1209Leu) | |
| 8 | g.132908227C>A | CA372243862 | TG | c.3889C>A (p.Gln1297Lys) c.544C>A c.3628C>A (p.Gln1210Lys) | |
| 8 | g.132908227C= | CA1821000236 | TG | c.3889C= (p.Gln1297=) c.544C= c.3628C= (p.Gln1210=) | |
| 8 | g.132908227C>G | CA372243863 | TG | c.3889C>G (p.Gln1297Glu) c.544C>G c.3628C>G (p.Gln1210Glu) | gnomAD v4 |
| 8 | g.132908227C>T | CA4883936 | TG | c.3889C>T (p.Gln1297Ter) c.544C>T c.3628C>T (p.Gln1210Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908228A>C | CA372243866 | TG | c.3890A>C (p.Gln1297Pro) c.545A>C c.3629A>C (p.Gln1210Pro) | |
| 8 | g.132908228A>G | CA372243864 | TG | c.3890A>G (p.Gln1297Arg) c.545A>G c.3629A>G (p.Gln1210Arg) | gnomAD v4 |
| 8 | g.132908228A>T | CA372243865 | TG | c.3890A>T (p.Gln1297Leu) c.545A>T c.3629A>T (p.Gln1210Leu) | |
| 8 | g.132908229G>A | CA463011581 | TG | c.3891G>A (p.Gln1297=) c.546G>A c.3630G>A (p.Gln1210=) | |
| 8 | g.132908229G>C | CA372243867 | TG | c.3891G>C (p.Gln1297His) c.546G>C c.3630G>C (p.Gln1210His) | gnomAD v4 |
| 8 | g.132908229G>T | CA372243868 | TG | c.3891G>T (p.Gln1297His) c.546G>T c.3630G>T (p.Gln1210His) | |
| 8 | g.132908230C>A | CA372243869 | TG | c.3892C>A (p.Leu1298Ile) c.547C>A c.3631C>A (p.Leu1211Ile) | |
| 8 | g.132908230C>G | CA372243870 | TG | c.3892C>G (p.Leu1298Val) c.547C>G c.3631C>G (p.Leu1211Val) | |
| 8 | g.132908230C>T | CA372243871 | TG | c.3892C>T (p.Leu1298Phe) c.547C>T c.3631C>T (p.Leu1211Phe) | |
| 8 | g.132908231T>A | CA372243872 | TG | c.3893T>A (p.Leu1298His) c.548T>A c.3632T>A (p.Leu1211His) | |
| 8 | g.132908231T>C | CA372243873 | TG | c.3893T>C (p.Leu1298Pro) c.548T>C c.3632T>C (p.Leu1211Pro) | dbSNP |
| 8 | g.132908231T>G | CA372243874 | TG | c.3893T>G (p.Leu1298Arg) c.548T>G c.3632T>G (p.Leu1211Arg) | |
| 8 | g.132908231T= | CA1821000239 | TG | c.3893T= (p.Leu1298=) c.548T= c.3632T= (p.Leu1211=) | |
| 8 | g.132908232C>A | CA463011582 | TG | c.3894C>A (p.Leu1298=) c.549C>A c.3633C>A (p.Leu1211=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.132908232C= | CA1821000246 | TG | c.3894C= (p.Leu1298=) c.549C= c.3633C= (p.Leu1211=) | |
| 8 | g.132908232C>G | CA463011583 | TG | c.3894C>G (p.Leu1298=) c.549C>G c.3633C>G (p.Leu1211=) | |
| 8 | g.132908232C>T | CA4883937 | TG | c.3894C>T (p.Leu1298=) c.549C>T c.3633C>T (p.Leu1211=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132908233C>A | CA372243875 | TG | c.3895C>A (p.Gln1299Lys) c.550C>A c.3634C>A (p.Gln1212Lys) | |
| 8 | g.132908233C>G | CA372243876 | TG | c.3895C>G (p.Gln1299Glu) c.550C>G c.3634C>G (p.Gln1212Glu) | |
| 8 | g.132908233C>T | CA372243877 | TG | c.3895C>T (p.Gln1299Ter) c.550C>T c.3634C>T (p.Gln1212Ter) | gnomAD v4 |
| 8 | g.132908234A>C | CA372243878 | TG | c.3896A>C (p.Gln1299Pro) c.551A>C c.3635A>C (p.Gln1212Pro) | |
| 8 | g.132908234A>G | CA372243880 | TG | c.3896A>G (p.Gln1299Arg) c.551A>G c.3635A>G (p.Gln1212Arg) | gnomAD v4 |
| 8 | g.132908234A>T | CA372243879 | TG | c.3896A>T (p.Gln1299Leu) c.551A>T c.3635A>T (p.Gln1212Leu) | |
| 8 | g.132908235G>A | CA463011584 | TG | c.3897G>A (p.Gln1299=) c.552G>A c.3636G>A (p.Gln1212=) | |
| 8 | g.132908235G>C | CA372243881 | TG | c.3897G>C (p.Gln1299His) c.552G>C c.3636G>C (p.Gln1212His) | |
| 8 | g.132908235G>T | CA372243882 | TG | c.3897G>T (p.Gln1299His) c.552G>T c.3636G>T (p.Gln1212His) | |
| 8 | g.132908236C>A | CA372243883 | TG | c.3898C>A (p.Leu1300Ile) c.553C>A c.3637C>A (p.Leu1213Ile) | |
| 8 | g.132908236C>G | CA372243884 | TG | c.3898C>G (p.Leu1300Val) c.553C>G c.3637C>G (p.Leu1213Val) | |
| 8 | g.132908236C>T | CA372243885 | TG | c.3898C>T (p.Leu1300Phe) c.553C>T c.3637C>T (p.Leu1213Phe) | |
| 8 | g.132908237T>A | CA372243888 | TG | c.3899T>A (p.Leu1300His) c.554T>A c.3638T>A (p.Leu1213His) | |
| 8 | g.132908237T>C | CA372243887 | TG | c.3899T>C (p.Leu1300Pro) c.554T>C c.3638T>C (p.Leu1213Pro) | |
| 8 | g.132908237T>G | CA372243886 | TG | c.3899T>G (p.Leu1300Arg) c.554T>G c.3638T>G (p.Leu1213Arg) | |
| 8 | g.132908238C>A | CA463011585 | TG | c.3900C>A (p.Leu1300=) c.555C>A c.3639C>A (p.Leu1213=) | |
| 8 | g.132908238C>G | CA463011586 | TG | c.3900C>G (p.Leu1300=) c.555C>G c.3639C>G (p.Leu1213=) | |
| 8 | g.132908238C>T | CA463011587 | TG | c.3900C>T (p.Leu1300=) c.555C>T c.3639C>T (p.Leu1213=) | |
| 8 | g.132908239C>A | CA4883938 | TG | c.3901C>A (p.Pro1301Thr) c.556C>A c.3640C>A (p.Pro1214Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908239C= | CA1821000251 | TG | c.3901C= (p.Pro1301=) c.556C= c.3640C= (p.Pro1214=) | |
| 8 | g.132908239C>G | CA372243889 | TG | c.3901C>G (p.Pro1301Ala) c.556C>G c.3640C>G (p.Pro1214Ala) | |
| 8 | g.132908239C>T | CA372243890 | TG | c.3901C>T (p.Pro1301Ser) c.556C>T c.3640C>T (p.Pro1214Ser) | |
| 8 | g.132908242_132908244dup | CA2688648742 | TG | c.3904_3906dup (p.Pro1302_Gly1303insPro) c.559_561dup c.3643_3645dup (p.Pro1215_Gly1216insPro) | gnomAD v4 |
| 8 | g.132908240C>A | CA372243891 | TG | c.3902C>A (p.Pro1301Gln) c.557C>A c.3641C>A (p.Pro1214Gln) | |
| 8 | g.132908240C= | CA1821000255 | TG | c.3902C= (p.Pro1301=) c.557C= c.3641C= (p.Pro1214=) | |
| 8 | g.132908240C>G | CA372243892 | TG | c.3902C>G (p.Pro1301Arg) c.557C>G c.3641C>G (p.Pro1214Arg) | |
| 8 | g.132908240C>T | CA4883939 | TG | c.3902C>T (p.Pro1301Leu) c.557C>T c.3641C>T (p.Pro1214Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908241del | CA585277568 | TG | c.3903del (p.Pro1302ArgfsTer24) c.558del c.3642del (p.Pro1215ArgfsTer24) | gnomAD v2 |
| 8 | g.132908241G>A | CA463011588 | TG | c.3903G>A (p.Pro1301=) c.558G>A c.3642G>A (p.Pro1214=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132908241G>C | CA463011590 | TG | c.3903G>C (p.Pro1301=) c.558G>C c.3642G>C (p.Pro1214=) | |
| 8 | g.132908241G= | CA1821000261 | TG | c.3903G= (p.Pro1301=) c.558G= c.3642G= (p.Pro1214=) | |
| 8 | g.132908241G>T | CA463011589 | TG | c.3903G>T (p.Pro1301=) c.558G>T c.3642G>T (p.Pro1214=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132908242C>A | CA372243895 | TG | c.3904C>A (p.Pro1302Thr) c.559C>A c.3643C>A (p.Pro1215Thr) | |
| 8 | g.132908242C>G | CA372243893 | TG | c.3904C>G (p.Pro1302Ala) c.559C>G c.3643C>G (p.Pro1215Ala) | |
| 8 | g.132908242C>T | CA372243894 | TG | c.3904C>T (p.Pro1302Ser) c.559C>T c.3643C>T (p.Pro1215Ser) | gnomAD v4 |
| 8 | g.132908243C>A | CA372243896 | TG | c.3905C>A (p.Pro1302Gln) c.560C>A c.3644C>A (p.Pro1215Gln) | |
| 8 | g.132908243C= | CA1821000265 | TG | c.3905C= (p.Pro1302=) c.560C= c.3644C= (p.Pro1215=) | |
| 8 | g.132908243C>G | CA372243897 | TG | c.3905C>G (p.Pro1302Arg) c.560C>G c.3644C>G (p.Pro1215Arg) | |
| 8 | g.132908243C>T | CA4883940 | TG | c.3905C>T (p.Pro1302Leu) c.560C>T c.3644C>T (p.Pro1215Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908244G>A | CA4883941 | TG | c.3906G>A (p.Pro1302=) c.561G>A c.3645G>A (p.Pro1215=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908244G>C | CA463011591 | TG | c.3906G>C (p.Pro1302=) c.561G>C c.3645G>C (p.Pro1215=) | |
| 8 | g.132908244G= | CA1821000269 | TG | c.3906G= (p.Pro1302=) c.561G= c.3645G= (p.Pro1215=) | |
| 8 | g.132908244G>T | CA463011592 | TG | c.3906G>T (p.Pro1302=) c.561G>T c.3645G>T (p.Pro1215=) | |
| 8 | g.132908245G>A | CA372243898 | TG | c.3907G>A (p.Gly1303Ser) c.562G>A c.3646G>A (p.Gly1216Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132908245G>C | CA372243899 | TG | c.3907G>C (p.Gly1303Arg) c.562G>C c.3646G>C (p.Gly1216Arg) | |
| 8 | g.132908245G= | CA1821000273 | TG | c.3907G= (p.Gly1303=) c.562G= c.3646G= (p.Gly1216=) | |
| 8 | g.132908245G>T | CA372243900 | TG | c.3907G>T (p.Gly1303Cys) c.562G>T c.3646G>T (p.Gly1216Cys) | |
| 8 | g.132908246G>A | CA4883942 | TG | c.3908G>A (p.Gly1303Asp) c.563G>A c.3647G>A (p.Gly1216Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132908246G>C | CA372243901 | TG | c.3908G>C (p.Gly1303Ala) c.563G>C c.3647G>C (p.Gly1216Ala) | |
| 8 | g.132908246G= | CA1821000275 | TG | c.3908G= (p.Gly1303=) c.563G= c.3647G= (p.Gly1216=) | |
| 8 | g.132908246G>T | CA372243902 | TG | c.3908G>T (p.Gly1303Val) c.563G>T c.3647G>T (p.Gly1216Val) | |
| 8 | g.132908247C>A | CA463011593 | TG | c.3909C>A (p.Gly1303=) c.564C>A c.3648C>A (p.Gly1216=) | |
| 8 | g.132908247C>G | CA463011594 | TG | c.3909C>G (p.Gly1303=) c.564C>G c.3648C>G (p.Gly1216=) | |
| 8 | g.132908247C>T | CA463011595 | TG | c.3909C>T (p.Gly1303=) c.564C>T c.3648C>T (p.Gly1216=) | |
| 8 | g.132908248A= | CA1821000277 | TG | c.3910A= (p.Lys1304=) c.565A= c.3649A= (p.Lys1217=) | |
| 8 | g.132908248A>C | CA372243903 | TG | c.3910A>C (p.Lys1304Gln) c.565A>C c.3649A>C (p.Lys1217Gln) | dbSNP |
| 8 | g.132908248A>G | CA372243904 | TG | c.3910A>G (p.Lys1304Glu) c.565A>G c.3649A>G (p.Lys1217Glu) | COSMIC |
| 8 | g.132908248A>T | CA372243905 | TG | c.3910A>T (p.Lys1304Ter) c.565A>T c.3649A>T (p.Lys1217Ter) | |
| 8 | g.132908249A= | CA1821000280 | TG | c.3911A= (p.Lys1304=) c.566A= c.3650A= (p.Lys1217=) | |
| 8 | g.132908249A>C | CA372243908 | TG | c.3911A>C (p.Lys1304Thr) c.566A>C c.3650A>C (p.Lys1217Thr) | gnomAD v4 |
| 8 | g.132908249A>G | CA372243906 | TG | c.3911A>G (p.Lys1304Arg) c.566A>G c.3650A>G (p.Lys1217Arg) | dbSNP gnomAD v4 |
| 8 | g.132908249A>T | CA372243907 | TG | c.3911A>T (p.Lys1304Met) c.566A>T c.3650A>T (p.Lys1217Met) | |
| 8 | g.132908250G>A | CA10627123 | TG | c.3912G>A (p.Lys1304=) c.567G>A c.3651G>A (p.Lys1217=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.132908250G>C | CA372243909 | TG | c.3912G>C (p.Lys1304Asn) c.567G>C c.3651G>C (p.Lys1217Asn) | |
| 8 | g.132908250G= | CA1821000286 | TG | c.3912G= (p.Lys1304=) c.567G= c.3651G= (p.Lys1217=) | |
| 8 | g.132908250G>T | CA372243910 | TG | c.3912G>T (p.Lys1304Asn) c.567G>T c.3651G>T (p.Lys1217Asn) | |
| 8 | g.132908251A= | CA1821000291 | TG | c.3913A= (p.Met1305=) c.568A= c.3652A= (p.Met1218=) | |
| 8 | g.132908251A>C | CA372243911 | TG | c.3913A>C (p.Met1305Leu) c.568A>C c.3652A>C (p.Met1218Leu) | |
| 8 | g.132908251A>G | CA372243912 | TG | c.3913A>G (p.Met1305Val) c.568A>G c.3652A>G (p.Met1218Val) | dbSNP |
| 8 | g.132908251A>T | CA372243914 | TG | c.3913A>T (p.Met1305Leu) c.568A>T c.3652A>T (p.Met1218Leu) | |
| 8 | g.132908252T>A | CA372243916 | TG | c.3914T>A (p.Met1305Lys) c.569T>A c.3653T>A (p.Met1218Lys) | gnomAD v4 |
| 8 | g.132908252T>C | CA372243917 | TG | c.3914T>C (p.Met1305Thr) c.569T>C c.3653T>C (p.Met1218Thr) | |
| 8 | g.132908252T>G | CA372243919 | TG | c.3914T>G (p.Met1305Arg) c.569T>G c.3653T>G (p.Met1218Arg) | |
| 8 | g.132908253G>A | CA372243920 | TG | c.3915G>A (p.Met1305Ile) c.570G>A c.3654G>A (p.Met1218Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908253G>C | CA372243921 | TG | c.3915G>C (p.Met1305Ile) c.570G>C c.3654G>C (p.Met1218Ile) | |
| 8 | g.132908253G= | CA1821000295 | TG | c.3915G= (p.Met1305=) c.570G= c.3654G= (p.Met1218=) | |
| 8 | g.132908253G>T | CA372243923 | TG | c.3915G>T (p.Met1305Ile) c.570G>T c.3654G>T (p.Met1218Ile) | |
| 8 | g.132908254T>A | CA372243927 | TG | c.3916T>A (p.Cys1306Ser) c.571T>A c.3655T>A (p.Cys1219Ser) | |
| 8 | g.132908254T>C | CA372243925 | TG | c.3916T>C (p.Cys1306Arg) c.571T>C c.3655T>C (p.Cys1219Arg) | |
| 8 | g.132908254T>G | CA372243924 | TG | c.3916T>G (p.Cys1306Gly) c.571T>G c.3655T>G (p.Cys1219Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132908254T= | CA1821000299 | TG | c.3916T= (p.Cys1306=) c.571T= c.3655T= (p.Cys1219=) | |
| 8 | g.132908255G>A | CA372243929 | TG | c.3917G>A (p.Cys1306Tyr) c.572G>A c.3656G>A (p.Cys1219Tyr) | gnomAD v4 |
| 8 | g.132908255G>C | CA372243930 | TG | c.3917G>C (p.Cys1306Ser) c.572G>C c.3656G>C (p.Cys1219Ser) | COSMIC |
| 8 | g.132908255G>T | CA372243931 | TG | c.3917G>T (p.Cys1306Phe) c.572G>T c.3656G>T (p.Cys1219Phe) | |
| 8 | g.132908256C>A | CA372243932 | TG | c.3918C>A (p.Cys1306Ter) c.573C>A c.3657C>A (p.Cys1219Ter) | |
| 8 | g.132908256C>G | CA372243933 | TG | c.3918C>G (p.Cys1306Trp) c.573C>G c.3657C>G (p.Cys1219Trp) | |
| 8 | g.132908256C>T | CA463011596 | TG | c.3918C>T (p.Cys1306=) c.573C>T c.3657C>T (p.Cys1219=) | gnomAD v4 |
| 8 | g.132908257A= | CA1821000304 | TG | c.3919A= (p.Ser1307=) c.574A= c.3658A= (p.Ser1220=) | |
| 8 | g.132908257A>C | CA4883943 | TG | c.3919A>C (p.Ser1307Arg) c.574A>C c.3658A>C (p.Ser1220Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908257A>G | CA372243934 | TG | c.3919A>G (p.Ser1307Gly) c.574A>G c.3658A>G (p.Ser1220Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132908257A>T | CA372243936 | TG | c.3919A>T (p.Ser1307Cys) c.574A>T c.3658A>T (p.Ser1220Cys) | |
| 8 | g.132908258G>A | CA372243937 | TG | c.3920G>A (p.Ser1307Asn) c.575G>A c.3659G>A (p.Ser1220Asn) | dbSNP gnomAD v4 COSMIC |
| 8 | g.132908258G>C | CA186300759 | TG | c.3920G>C (p.Ser1307Thr) c.575G>C c.3659G>C (p.Ser1220Thr) | dbSNP |
| 8 | g.132908258G= | CA1821000307 | TG | c.3920G= (p.Ser1307=) c.575G= c.3659G= (p.Ser1220=) | |
| 8 | g.132908258G>T | CA372243938 | TG | c.3920G>T (p.Ser1307Ile) c.575G>T c.3659G>T (p.Ser1220Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132908259T>A | CA372243939 | TG | c.3921T>A (p.Ser1307Arg) c.576T>A c.3660T>A (p.Ser1220Arg) | |
| 8 | g.132908259T>C | CA463011597 | TG | c.3921T>C (p.Ser1307=) c.576T>C c.3660T>C (p.Ser1220=) | |
| 8 | g.132908259T>G | CA372243940 | TG | c.3921T>G (p.Ser1307Arg) c.576T>G c.3660T>G (p.Ser1220Arg) | |
| 8 | g.132908260G>A | CA372243945 | TG | c.3922G>A (p.Ala1308Thr) c.577G>A c.3661G>A (p.Ala1221Thr) | |
| 8 | g.132908260G>C | CA372243947 | TG | c.3922G>C (p.Ala1308Pro) c.577G>C c.3661G>C (p.Ala1221Pro) | dbSNP |
| 8 | g.132908260G= | CA1821000314 | TG | c.3922G= (p.Ala1308=) c.577G= c.3661G= (p.Ala1221=) | |
| 8 | g.132908260G>T | CA372243944 | TG | c.3922G>T (p.Ala1308Ser) c.577G>T c.3661G>T (p.Ala1221Ser) | COSMIC |
| 8 | g.132908261C>A | CA372243949 | TG | c.3923C>A (p.Ala1308Asp) c.578C>A c.3662C>A (p.Ala1221Asp) | |
| 8 | g.132908261C= | CA1821000318 | TG | c.3923C= (p.Ala1308=) c.578C= c.3662C= (p.Ala1221=) | |
| 8 | g.132908261C>G | CA372243950 | TG | c.3923C>G (p.Ala1308Gly) c.578C>G c.3662C>G (p.Ala1221Gly) | |
| 8 | g.132908261C>T | CA4883944 | TG | c.3923C>T (p.Ala1308Val) c.578C>T c.3662C>T (p.Ala1221Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132908262T>A | CA463011598 | TG | c.3924T>A (p.Ala1308=) c.579T>A c.3663T>A (p.Ala1221=) | |
| 8 | g.132908262T>C | CA463011599 | TG | c.3924T>C (p.Ala1308=) c.579T>C c.3663T>C (p.Ala1221=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908262T>G | CA463011600 | TG | c.3924T>G (p.Ala1308=) c.579T>G c.3663T>G (p.Ala1221=) | |
| 8 | g.132908262T= | CA1821000319 | TG | c.3924T= (p.Ala1308=) c.579T= c.3663T= (p.Ala1221=) | |
| 8 | g.132908263G>A | CA372243951 | TG | c.3925G>A (p.Asp1309Asn) c.580G>A c.3664G>A (p.Asp1222Asn) | gnomAD v4 |
| 8 | g.132908263G>C | CA372243959 | TG | c.3925G>C (p.Asp1309His) c.580G>C c.3664G>C (p.Asp1222His) | gnomAD v4 |
| 8 | g.132908263G>T | CA372243962 | TG | c.3925G>T (p.Asp1309Tyr) c.580G>T c.3664G>T (p.Asp1222Tyr) | |
| 8 | g.132908264A= | CA1821000323 | TG | c.3926A= (p.Asp1309=) c.581A= c.3665A= (p.Asp1222=) | |
| 8 | g.132908264A>C | CA372243967 | TG | c.3926A>C (p.Asp1309Ala) c.581A>C c.3665A>C (p.Asp1222Ala) | gnomAD v4 |
| 8 | g.132908264A>G | CA372243969 | TG | c.3926A>G (p.Asp1309Gly) c.581A>G c.3665A>G (p.Asp1222Gly) | |
| 8 | g.132908264A>T | CA4883945 | TG | c.3926A>T (p.Asp1309Val) c.581A>T c.3665A>T (p.Asp1222Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132908265C>A | CA372243973 | TG | c.3927C>A (p.Asp1309Glu) c.582C>A c.3666C>A (p.Asp1222Glu) | |
| 8 | g.132908265C= | CA1821000324 | TG | c.3927C= (p.Asp1309=) c.582C= c.3666C= (p.Asp1222=) | |
| 8 | g.132908265C>G | CA372243976 | TG | c.3927C>G (p.Asp1309Glu) c.582C>G c.3666C>G (p.Asp1222Glu) | |
| 8 | g.132908265C>T | CA463011601 | TG | c.3927C>T (p.Asp1309=) c.582C>T c.3666C>T (p.Asp1222=) | dbSNP gnomAD v4 |
| 8 | g.132908266T>A | CA372243979 | TG | c.3928T>A (p.Tyr1310Asn) c.583T>A c.3667T>A (p.Tyr1223Asn) | dbSNP |
| 8 | g.132908266T>C | CA4883946 | TG | c.3928T>C (p.Tyr1310His) c.583T>C c.3667T>C (p.Tyr1223His) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 8 | g.132908266T>G | CA372243982 | TG | c.3928T>G (p.Tyr1310Asp) c.583T>G c.3667T>G (p.Tyr1223Asp) | |
| 8 | g.132908266T= | CA1821000325 | TG | c.3928T= (p.Tyr1310=) c.583T= c.3667T= (p.Tyr1223=) | |
| 8 | g.132908267A= | CA1821000326 | TG | c.3929A= (p.Tyr1310=) c.584A= c.3668A= (p.Tyr1223=) | |
| 8 | g.132908267A>C | CA372243989 | TG | c.3929A>C (p.Tyr1310Ser) c.584A>C c.3668A>C (p.Tyr1223Ser) | |
| 8 | g.132908267A>G | CA4883947 | TG | c.3929A>G (p.Tyr1310Cys) c.584A>G c.3668A>G (p.Tyr1223Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132908267A>T | CA4883948 | TG | c.3929A>T (p.Tyr1310Phe) c.584A>T c.3668A>T (p.Tyr1223Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132908268C>A | CA372243992 | TG | c.3930C>A (p.Tyr1310Ter) c.585C>A c.3669C>A (p.Tyr1223Ter) | ClinVar gnomAD v4 |
| 8 | g.132908268C= | CA1821000328 | TG | c.3930C= (p.Tyr1310=) c.585C= c.3669C= (p.Tyr1223=) | |
| 8 | g.132908268C>G | CA372243994 | TG | c.3930C>G (p.Tyr1310Ter) c.585C>G c.3669C>G (p.Tyr1223Ter) | gnomAD v4 |
| 8 | g.132908268C>T | CA4883949 | TG | c.3930C>T (p.Tyr1310=) c.585C>T c.3669C>T (p.Tyr1223=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.132908269G>A | CA4883950 | TG | c.3931G>A (p.Ala1311Thr) c.586G>A c.3670G>A (p.Ala1224Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908269G>C | CA372243997 | TG | c.3931G>C (p.Ala1311Pro) c.586G>C c.3670G>C (p.Ala1224Pro) | gnomAD v4 |
| 8 | g.132908269G= | CA1821000329 | TG | c.3931G= (p.Ala1311=) c.586G= c.3670G= (p.Ala1224=) | |
| 8 | g.132908269G>T | CA372243998 | TG | c.3931G>T (p.Ala1311Ser) c.586G>T c.3670G>T (p.Ala1224Ser) | |
| 8 | g.132908270C>A | CA372243999 | TG | c.3932C>A (p.Ala1311Glu) c.587C>A c.3671C>A (p.Ala1224Glu) | |
| 8 | g.132908270C= | CA1821000330 | TG | c.3932C= (p.Ala1311=) c.587C= c.3671C= (p.Ala1224=) | |
| 8 | g.132908270C>G | CA372244000 | TG | c.3932C>G (p.Ala1311Gly) c.587C>G c.3671C>G (p.Ala1224Gly) | |
| 8 | g.132908270C>T | CA4883951 | TG | c.3932C>T (p.Ala1311Val) c.587C>T c.3671C>T (p.Ala1224Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908271G>A | CA4883952 | TG | c.3933G>A (p.Ala1311=) c.588G>A c.3672G>A (p.Ala1224=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908271G>C | CA463011602 | TG | c.3933G>C (p.Ala1311=) c.588G>C c.3672G>C (p.Ala1224=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132908271G= | CA1821000335 | TG | c.3933G= (p.Ala1311=) c.588G= c.3672G= (p.Ala1224=) | |
| 8 | g.132908271G>T | CA463011603 | TG | c.3933G>T (p.Ala1311=) c.588G>T c.3672G>T (p.Ala1224=) | |
| 8 | g.132908272G>A | CA372244004 | TG | c.3934G>A (p.Asp1312Asn) c.589G>A c.3673G>A (p.Asp1225Asn) | dbSNP |
| 8 | g.132908272G>C | CA372244006 | TG | c.3934G>C (p.Asp1312His) c.589G>C c.3673G>C (p.Asp1225His) | |
| 8 | g.132908272G>T | CA372244003 | TG | c.3934G>T (p.Asp1312Tyr) c.589G>T c.3673G>T (p.Asp1225Tyr) | |
| 8 | g.132908273A= | CA1821000345 | TG | c.3935A= (p.Asp1312=) c.590A= c.3674A= (p.Asp1225=) | |
| 8 | g.132908273A>C | CA372244008 | TG | c.3935A>C (p.Asp1312Ala) c.590A>C c.3674A>C (p.Asp1225Ala) | |
| 8 | g.132908273A>G | CA4883953 | TG | c.3935A>G (p.Asp1312Gly) c.590A>G c.3674A>G (p.Asp1225Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908273A>T | CA372244012 | TG | c.3935A>T (p.Asp1312Val) c.590A>T c.3674A>T (p.Asp1225Val) | gnomAD v4 |
| 8 | g.132908273_132908274insGACTTTCCAGGAAACCCGCCGGGCAAGATGTGCAGTGCTGACTACGCGGG | CA2604872268 | TG | c.3935_3936insGACTTTCCAGGAAACCCGCCGGGCAAGATGTGCAGTGCTGACTACGCGGG (p.Asp1312GlufsTer31) c.590_591insGACTTTCCAGGAAACCCGCCGGGCAAGATGTGCAGTGCTGACTACGCGGG c.3674_3675insGACTTTCCAGGAAACCCGCCGGGCAAGATGTGCAGTGCTGACTACGCGGG (p.Asp1225GlufsTer31) | gnomAD v3 gnomAD v4 |
| 8 | g.132908274T>A | CA372244014 | TG | c.3936T>A (p.Asp1312Glu) c.591T>A c.3675T>A (p.Asp1225Glu) | |
| 8 | g.132908274T>C | CA463011604 | TG | c.3936T>C (p.Asp1312=) c.591T>C c.3675T>C (p.Asp1225=) | |
| 8 | g.132908274T>G | CA372244016 | TG | c.3936T>G (p.Asp1312Glu) c.591T>G c.3675T>G (p.Asp1225Glu) | |
| 8 | g.132908275T>A | CA372244019 | TG | c.3937T>A (p.Leu1313Met) c.592T>A c.3676T>A (p.Leu1226Met) | |
| 8 | g.132908275T>C | CA463011605 | TG | c.3937T>C (p.Leu1313=) c.592T>C c.3676T>C (p.Leu1226=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.132908275T>G | CA372244021 | TG | c.3937T>G (p.Leu1313Val) c.592T>G c.3676T>G (p.Leu1226Val) | |
| 8 | g.132908275T= | CA1821000350 | TG | c.3937T= (p.Leu1313=) c.592T= c.3676T= (p.Leu1226=) | |
| 8 | g.132908275_132908278delinsTTGC | CA1821000349 | TG | c.3937_3940delinsTTGC (p.Leu1313=) c.592_595delinsTTGC c.3676_3679delinsTTGC (p.Leu1226=) | |
| 8 | g.132908276T>A | CA372244024 | TG | c.3938T>A (p.Leu1313Ter) c.593T>A c.3677T>A (p.Leu1226Ter) | |
| 8 | g.132908276T>C | CA372244027 | TG | c.3938T>C (p.Leu1313Ser) c.593T>C c.3677T>C (p.Leu1226Ser) | |
| 8 | g.132908276T>G | CA372244029 | TG | c.3938T>G (p.Leu1313Trp) c.593T>G c.3677T>G (p.Leu1226Trp) | |
| 8 | g.132908279_132908281del | CA585277574 | TG | c.3941_3943del (p.Leu1314del) c.596_598del c.3680_3682del (p.Leu1227del) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132908277G>A | CA463011606 | TG | c.3939G>A (p.Leu1313=) c.594G>A c.3678G>A (p.Leu1226=) | |
| 8 | g.132908277G>C | CA372244031 | TG | c.3939G>C (p.Leu1313Phe) c.594G>C c.3678G>C (p.Leu1226Phe) | |
| 8 | g.132908277G= | CA1821000361 | TG | c.3939G= (p.Leu1313=) c.594G= c.3678G= (p.Leu1226=) | |
| 8 | g.132908277G>T | CA4883954 | TG | c.3939G>T (p.Leu1313Phe) c.594G>T c.3678G>T (p.Leu1226Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132908278C>A | CA372244039 | TG | c.3940C>A (p.Leu1314Met) c.595C>A c.3679C>A (p.Leu1227Met) | |
| 8 | g.132908278C>G | CA372244037 | TG | c.3940C>G (p.Leu1314Val) c.595C>G c.3679C>G (p.Leu1227Val) | |
| 8 | g.132908278C>T | CA463011607 | TG | c.3940C>T (p.Leu1314=) c.595C>T c.3679C>T (p.Leu1227=) | |
| 8 | g.132908279T>A | CA372244042 | TG | c.3941T>A (p.Leu1314Gln) c.596T>A c.3680T>A (p.Leu1227Gln) | |
| 8 | g.132908279T>C | CA372244044 | TG | c.3941T>C (p.Leu1314Pro) c.596T>C c.3680T>C (p.Leu1227Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132908279T>G | CA372244046 | TG | c.3941T>G (p.Leu1314Arg) c.596T>G c.3680T>G (p.Leu1227Arg) | |
| 8 | g.132908279T= | CA1821000366 | TG | c.3941T= (p.Leu1314=) c.596T= c.3680T= (p.Leu1227=) | |
| 8 | g.132908280G>A | CA463011608 | TG | c.3942G>A (p.Leu1314=) c.597G>A c.3681G>A (p.Leu1227=) | gnomAD v4 |
| 8 | g.132908280G>C | CA463011609 | TG | c.3942G>C (p.Leu1314=) c.597G>C c.3681G>C (p.Leu1227=) | |
| 8 | g.132908280G>T | CA463011610 | TG | c.3942G>T (p.Leu1314=) c.597G>T c.3681G>T (p.Leu1227=) | gnomAD v4 |
| 8 | g.132908281C>A | CA372244048 | TG | c.3943C>A (p.Gln1315Lys) c.598C>A c.3682C>A (p.Gln1228Lys) | gnomAD v4 |
| 8 | g.132908281C>G | CA372244051 | TG | c.3943C>G (p.Gln1315Glu) c.598C>G c.3682C>G (p.Gln1228Glu) | |
| 8 | g.132908281C>T | CA372244052 | TG | c.3943C>T (p.Gln1315Ter) c.598C>T c.3682C>T (p.Gln1228Ter) | gnomAD v4 |
| 8 | g.132908282A>C | CA372244054 | TG | c.3944A>C (p.Gln1315Pro) c.599A>C c.3683A>C (p.Gln1228Pro) | |
| 8 | g.132908282A>G | CA372244056 | TG | c.3944A>G (p.Gln1315Arg) c.599A>G c.3683A>G (p.Gln1228Arg) | |
| 8 | g.132908282A>T | CA372244059 | TG | c.3944A>T (p.Gln1315Leu) c.599A>T c.3683A>T (p.Gln1228Leu) | |
| 8 | g.132908283G>A | CA463011611 | TG | c.3945G>A (p.Gln1315=) c.600G>A c.3684G>A (p.Gln1228=) | |
| 8 | g.132908283G>C | CA372244061 | TG | c.3945G>C (p.Gln1315His) c.600G>C c.3684G>C (p.Gln1228His) | |
| 8 | g.132908283G>T | CA372244064 | TG | c.3945G>T (p.Gln1315His) c.600G>T c.3684G>T (p.Gln1228His) | |
| 8 | g.132908284A>C | CA372244066 | TG | c.3946A>C (p.Thr1316Pro) c.601A>C c.3685A>C (p.Thr1229Pro) | |
| 8 | g.132908284A>G | CA372244068 | TG | c.3946A>G (p.Thr1316Ala) c.601A>G c.3685A>G (p.Thr1229Ala) | |
| 8 | g.132908284A>T | CA372244070 | TG | c.3946A>T (p.Thr1316Ser) c.601A>T c.3685A>T (p.Thr1229Ser) | COSMIC |
| 8 | g.132908285C>A | CA372244074 | TG | c.3947C>A (p.Thr1316Asn) c.602C>A c.3686C>A (p.Thr1229Asn) | |
| 8 | g.132908285C>G | CA372244077 | TG | c.3947C>G (p.Thr1316Ser) c.602C>G c.3686C>G (p.Thr1229Ser) | |
| 8 | g.132908285C>T | CA372244073 | TG | c.3947C>T (p.Thr1316Ile) c.602C>T c.3686C>T (p.Thr1229Ile) | |
| 8 | g.132908286T>A | CA463011612 | TG | c.3948T>A (p.Thr1316=) c.603T>A c.3687T>A (p.Thr1229=) | |
| 8 | g.132908286T>C | CA463011614 | TG | c.3948T>C (p.Thr1316=) c.603T>C c.3687T>C (p.Thr1229=) | |
| 8 | g.132908286T>G | CA463011613 | TG | c.3948T>G (p.Thr1316=) c.603T>G c.3687T>G (p.Thr1229=) | |
| 8 | g.132908287T>A | CA372244080 | TG | c.3949T>A (p.Phe1317Ile) c.604T>A c.3688T>A (p.Phe1230Ile) | |
| 8 | g.132908287T>C | CA186300797 | TG | c.3949T>C (p.Phe1317Leu) c.604T>C c.3688T>C (p.Phe1230Leu) | dbSNP gnomAD v4 |
| 8 | g.132908287T>G | CA372244082 | TG | c.3949T>G (p.Phe1317Val) c.604T>G c.3688T>G (p.Phe1230Val) | |
| 8 | g.132908287T= | CA1821000369 | TG | c.3949T= (p.Phe1317=) c.604T= c.3688T= (p.Phe1230=) | |
| 8 | g.132908288T>A | CA372244085 | TG | c.3950T>A (p.Phe1317Tyr) c.605T>A c.3689T>A (p.Phe1230Tyr) | |
| 8 | g.132908288T>C | CA4883955 | TG | c.3950T>C (p.Phe1317Ser) c.605T>C c.3689T>C (p.Phe1230Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132908288T>G | CA4883956 | TG | c.3950T>G (p.Phe1317Cys) c.605T>G c.3689T>G (p.Phe1230Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908288T= | CA1821000372 | TG | c.3950T= (p.Phe1317=) c.605T= c.3689T= (p.Phe1230=) | |
| 8 | g.132908289C>A | CA372244092 | TG | c.3951C>A (p.Phe1317Leu) c.606C>A c.3690C>A (p.Phe1230Leu) | |
| 8 | g.132908289C>G | CA372244093 | TG | c.3951C>G (p.Phe1317Leu) c.606C>G c.3690C>G (p.Phe1230Leu) | |
| 8 | g.132908289C>T | CA463011615 | TG | c.3951C>T (p.Phe1317=) c.606C>T c.3690C>T (p.Phe1230=) | gnomAD v4 |
| 8 | g.132908290del | CA2552640221 | TG | c.3952del (p.Gln1318ArgfsTer8) c.607del c.3691del (p.Gln1231ArgfsTer8) | |
| 8 | g.132908290C>A | CA372244096 | TG | c.3952C>A (p.Gln1318Lys) c.607C>A c.3691C>A (p.Gln1231Lys) | |
| 8 | g.132908290C= | CA1821000376 | TG | c.3952C= (p.Gln1318=) c.607C= c.3691C= (p.Gln1231=) | |
| 8 | g.132908290C>G | CA372244098 | TG | c.3952C>G (p.Gln1318Glu) c.607C>G c.3691C>G (p.Gln1231Glu) | |
| 8 | g.132908290C>T | CA372244101 | TG | c.3952C>T (p.Gln1318Ter) c.607C>T c.3691C>T (p.Gln1231Ter) | dbSNP gnomAD v2 |
| 8 | g.132908291A= | CA1821000381 | TG | c.3953A= (p.Gln1318=) c.608A= c.3692A= (p.Gln1231=) | |
| 8 | g.132908291A>C | CA372244103 | TG | c.3953A>C (p.Gln1318Pro) c.608A>C c.3692A>C (p.Gln1231Pro) | |
| 8 | g.132908291A>G | CA4883957 | TG | c.3953A>G (p.Gln1318Arg) c.608A>G c.3692A>G (p.Gln1231Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132908291A>T | CA372244104 | TG | c.3953A>T (p.Gln1318Leu) c.608A>T c.3692A>T (p.Gln1231Leu) | |
| 8 | g.132908292G>A | CA463011616 | TG | c.3954G>A (p.Gln1318=) c.609G>A c.3693G>A (p.Gln1231=) | gnomAD v4 |
| 8 | g.132908292G>C | CA372244105 | TG | c.3954G>C (p.Gln1318His) c.609G>C c.3693G>C (p.Gln1231His) | |
| 8 | g.132908292G>T | CA372244106 | TG | c.3954G>T (p.Gln1318His) c.609G>T c.3693G>T (p.Gln1231His) | |
| 8 | g.132908293G>A | CA372244109 | TG | c.3955G>A (p.Val1319Ile) c.610G>A c.3694G>A (p.Val1232Ile) | gnomAD v4 COSMIC |
| 8 | g.132908293G>C | CA372244113 | TG | c.3955G>C (p.Val1319Leu) c.610G>C c.3694G>C (p.Val1232Leu) | |
| 8 | g.132908293G>T | CA372244112 | TG | c.3955G>T (p.Val1319Phe) c.610G>T c.3694G>T (p.Val1232Phe) | |
| 8 | g.132908294T>A | CA372244115 | TG | c.3956T>A (p.Val1319Asp) c.611T>A c.3695T>A (p.Val1232Asp) | |
| 8 | g.132908294T>C | CA372244117 | TG | c.3956T>C (p.Val1319Ala) c.611T>C c.3695T>C (p.Val1232Ala) | |
| 8 | g.132908294T>G | CA372244120 | TG | c.3956T>G (p.Val1319Gly) c.611T>G c.3695T>G (p.Val1232Gly) | |
| 8 | g.132908295T>A | CA463011617 | TG | c.3957T>A (p.Val1319=) c.612T>A c.3696T>A (p.Val1232=) | |
| 8 | g.132908295T>C | CA463011618 | TG | c.3957T>C (p.Val1319=) c.612T>C c.3696T>C (p.Val1232=) | |
| 8 | g.132908295T>G | CA463011619 | TG | c.3957T>G (p.Val1319=) c.612T>G c.3696T>G (p.Val1232=) | |
| 8 | g.132908296T>A | CA372244121 | TG | c.3958T>A (p.Phe1320Ile) c.613T>A c.3697T>A (p.Phe1233Ile) | |
| 8 | g.132908296T>C | CA372244122 | TG | c.3958T>C (p.Phe1320Leu) c.613T>C c.3697T>C (p.Phe1233Leu) | |
| 8 | g.132908296T>G | CA372244123 | TG | c.3958T>G (p.Phe1320Val) c.613T>G c.3697T>G (p.Phe1233Val) | |
| 8 | g.132908297T>A | CA372244125 | TG | c.3959T>A (p.Phe1320Tyr) c.614T>A c.3698T>A (p.Phe1233Tyr) | |
| 8 | g.132908297T>C | CA372244127 | TG | c.3959T>C (p.Phe1320Ser) c.614T>C c.3698T>C (p.Phe1233Ser) | gnomAD v4 |
| 8 | g.132908297T>G | CA372244128 | TG | c.3959T>G (p.Phe1320Cys) c.614T>G c.3698T>G (p.Phe1233Cys) | |
| 8 | g.132908298C>A | CA372244130 | TG | c.3960C>A (p.Phe1320Leu) c.615C>A c.3699C>A (p.Phe1233Leu) | |
| 8 | g.132908298C>G | CA372244131 | TG | c.3960C>G (p.Phe1320Leu) c.615C>G c.3699C>G (p.Phe1233Leu) | |
| 8 | g.132908298C>T | CA463011620 | TG | c.3960C>T (p.Phe1320=) c.615C>T c.3699C>T (p.Phe1233=) | |
| 8 | g.132908299A>C | CA372244134 | TG | c.3961A>C (p.Ile1321Leu) c.616A>C c.3700A>C (p.Ile1234Leu) | gnomAD v4 |
| 8 | g.132908299A>G | CA372244133 | TG | c.3961A>G (p.Ile1321Val) c.616A>G c.3700A>G (p.Ile1234Val) | gnomAD v4 |
| 8 | g.132908299A>T | CA372244132 | TG | c.3961A>T (p.Ile1321Leu) c.616A>T c.3700A>T (p.Ile1234Leu) | |
| 8 | g.132908300T>A | CA372244137 | TG | c.3962T>A (p.Ile1321Lys) c.617T>A c.3701T>A (p.Ile1234Lys) | |
| 8 | g.132908300T>C | CA372244135 | TG | c.3962T>C (p.Ile1321Thr) c.617T>C c.3701T>C (p.Ile1234Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132908300T>G | CA372244136 | TG | c.3962T>G (p.Ile1321Arg) c.617T>G c.3701T>G (p.Ile1234Arg) | |
| 8 | g.132908300T= | CA1821000385 | TG | c.3962T= (p.Ile1321=) c.617T= c.3701T= (p.Ile1234=) | |
| 8 | g.132908301A= | CA1821000387 | TG | c.3963A= (p.Ile1321=) c.618A= c.3702A= (p.Ile1234=) | |
| 8 | g.132908301A>C | CA463011621 | TG | c.3963A>C (p.Ile1321=) c.618A>C c.3702A>C (p.Ile1234=) | |
| 8 | g.132908301A>G | CA186300813 | TG | c.3963A>G (p.Ile1321Met) c.618A>G c.3702A>G (p.Ile1234Met) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132908301A>T | CA463011622 | TG | c.3963A>T (p.Ile1321=) c.618A>T c.3702A>T (p.Ile1234=) | |
| 8 | g.132908302T>A | CA372244139 | TG | c.3964T>A (p.Leu1322Met) c.619T>A c.3703T>A (p.Leu1235Met) | |
| 8 | g.132908302T>C | CA10624837 | TG | c.3964T>C (p.Leu1322=) c.619T>C c.3703T>C (p.Leu1235=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132908302T>G | CA372244141 | TG | c.3964T>G (p.Leu1322Val) c.619T>G c.3703T>G (p.Leu1235Val) | |
| 8 | g.132908302T= | CA1821000394 | TG | c.3964T= (p.Leu1322=) c.619T= c.3703T= (p.Leu1235=) |