| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.127339138A>C | CA360822022 | MEGF10 | c.135A>C (p.Gln45His) c.300A>C (p.Gln100His) | |
| 5 | g.127339138A>G | CA446422459 | MEGF10 | c.135A>G (p.Gln45=) c.300A>G (p.Gln100=) | |
| 5 | g.127339138A>T | CA360822023 | MEGF10 | c.135A>T (p.Gln45His) c.300A>T (p.Gln100His) | |
| 5 | g.127339139G>A | CA360822026 | MEGF10 | c.136G>A (p.Glu46Lys) c.301G>A (p.Glu101Lys) | |
| 5 | g.127339139G>C | CA360822024 | MEGF10 | c.136G>C (p.Glu46Gln) c.301G>C (p.Glu101Gln) | gnomAD v4 |
| 5 | g.127339139G>T | CA360822025 | MEGF10 | c.136G>T (p.Glu46Ter) c.301G>T (p.Glu101Ter) | |
| 5 | g.127339140A>C | CA360822027 | MEGF10 | c.137A>C (p.Glu46Ala) c.302A>C (p.Glu101Ala) | gnomAD v4 |
| 5 | g.127339140A>G | CA360822028 | MEGF10 | c.137A>G (p.Glu46Gly) c.302A>G (p.Glu101Gly) | |
| 5 | g.127339140A>T | CA360822029 | MEGF10 | c.137A>T (p.Glu46Val) c.302A>T (p.Glu101Val) | |
| 5 | g.127339141G>A | CA3391185 | MEGF10 | c.138G>A (p.Glu46=) c.303G>A (p.Glu101=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127339141G>C | CA360822030 | MEGF10 | c.138G>C (p.Glu46Asp) c.303G>C (p.Glu101Asp) | |
| 5 | g.127339141G= | CA1580813900 | MEGF10 | c.138G= (p.Glu46=) c.303G= (p.Glu101=) | |
| 5 | g.127339141G>T | CA360822031 | MEGF10 | c.138G>T (p.Glu46Asp) c.303G>T (p.Glu101Asp) | |
| 5 | g.127339142T>A | CA360822034 | MEGF10 | c.139T>A (p.Ser47Thr) c.304T>A (p.Ser102Thr) | |
| 5 | g.127339142T>C | CA360822033 | MEGF10 | c.139T>C (p.Ser47Pro) c.304T>C (p.Ser102Pro) | |
| 5 | g.127339142T>G | CA360822032 | MEGF10 | c.139T>G (p.Ser47Ala) c.304T>G (p.Ser102Ala) | |
| 5 | g.127339143C>A | CA360822035 | MEGF10 | c.140C>A (p.Ser47Ter) c.305C>A (p.Ser102Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.127339143C= | CA1580813901 | MEGF10 | c.140C= (p.Ser47=) c.305C= (p.Ser102=) | |
| 5 | g.127339143C>G | CA360822036 | MEGF10 | c.140C>G (p.Ser47Ter) c.305C>G (p.Ser102Ter) | |
| 5 | g.127339143C>T | CA360822037 | MEGF10 | c.140C>T (p.Ser47Leu) c.305C>T (p.Ser102Leu) | gnomAD v4 |
| 5 | g.127339144A>C | CA446422468 | MEGF10 | c.141A>C (p.Ser47=) c.306A>C (p.Ser102=) | |
| 5 | g.127339144A>G | CA446422467 | MEGF10 | c.141A>G (p.Ser47=) c.306A>G (p.Ser102=) | |
| 5 | g.127339144A>T | CA446422466 | MEGF10 | c.141A>T (p.Ser47=) c.306A>T (p.Ser102=) | |
| 5 | g.127339145T>A | CA360822038 | MEGF10 | c.142T>A (p.Tyr48Asn) c.307T>A (p.Tyr103Asn) | |
| 5 | g.127339145T>C | CA3391186 | MEGF10 | c.142T>C (p.Tyr48His) c.307T>C (p.Tyr103His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.127339145T>G | CA360822039 | MEGF10 | c.142T>G (p.Tyr48Asp) c.307T>G (p.Tyr103Asp) | |
| 5 | g.127339145T= | CA1580813902 | MEGF10 | c.142T= (p.Tyr48=) c.307T= (p.Tyr103=) | |
| 5 | g.127339146A>C | CA360822040 | MEGF10 | c.143A>C (p.Tyr48Ser) c.308A>C (p.Tyr103Ser) | |
| 5 | g.127339146A>G | CA360822042 | MEGF10 | c.143A>G (p.Tyr48Cys) c.308A>G (p.Tyr103Cys) | |
| 5 | g.127339146A>T | CA360822041 | MEGF10 | c.143A>T (p.Tyr48Phe) c.308A>T (p.Tyr103Phe) | |
| 5 | g.127339147C>A | CA360822043 | MEGF10 | c.144C>A (p.Tyr48Ter) c.309C>A (p.Tyr103Ter) | |
| 5 | g.127339147C>G | CA360822044 | MEGF10 | c.144C>G (p.Tyr48Ter) c.309C>G (p.Tyr103Ter) | |
| 5 | g.127339147C>T | CA446422469 | MEGF10 | c.144C>T (p.Tyr48=) c.309C>T (p.Tyr103=) | gnomAD v4 |
| 5 | g.127339148C>A | CA360822045 | MEGF10 | c.145C>A (p.Pro49Thr) c.310C>A (p.Pro104Thr) | |
| 5 | g.127339148C>G | CA360822046 | MEGF10 | c.145C>G (p.Pro49Ala) c.310C>G (p.Pro104Ala) | |
| 5 | g.127339148C>T | CA360822047 | MEGF10 | c.145C>T (p.Pro49Ser) c.310C>T (p.Pro104Ser) | |
| 5 | g.127339149C>A | CA360822048 | MEGF10 | c.146C>A (p.Pro49Gln) c.311C>A (p.Pro104Gln) | |
| 5 | g.127339149C= | CA1580813903 | MEGF10 | c.146C= (p.Pro49=) c.311C= (p.Pro104=) | |
| 5 | g.127339149C>G | CA360822049 | MEGF10 | c.146C>G (p.Pro49Arg) c.311C>G (p.Pro104Arg) | |
| 5 | g.127339149C>T | CA360822050 | MEGF10 | c.146C>T (p.Pro49Leu) c.311C>T (p.Pro104Leu) | dbSNP gnomAD v4 |
| 5 | g.127339150A= | CA1580813904 | MEGF10 | c.147A= (p.Pro49=) c.312A= (p.Pro104=) | |
| 5 | g.127339150A>C | CA446422473 | MEGF10 | c.147A>C (p.Pro49=) c.312A>C (p.Pro104=) | |
| 5 | g.127339150A>G | CA446422474 | MEGF10 | c.147A>G (p.Pro49=) c.312A>G (p.Pro104=) | ClinVar dbSNP |
| 5 | g.127339150A>T | CA446422475 | MEGF10 | c.147A>T (p.Pro49=) c.312A>T (p.Pro104=) | |
| 5 | g.127339151C>A | CA360822051 | MEGF10 | c.148C>A (p.His50Asn) c.313C>A (p.His105Asn) | |
| 5 | g.127339151C= | CA1580813905 | MEGF10 | c.148C= (p.His50=) c.313C= (p.His105=) | |
| 5 | g.127339151C>G | CA360822052 | MEGF10 | c.148C>G (p.His50Asp) c.313C>G (p.His105Asp) | |
| 5 | g.127339151C>T | CA360822053 | MEGF10 | c.148C>T (p.His50Tyr) c.313C>T (p.His105Tyr) | dbSNP gnomAD v4 |
| 5 | g.127339152A= | CA1580813906 | MEGF10 | c.149A= (p.His50=) c.314A= (p.His105=) | |
| 5 | g.127339152A>C | CA360822054 | MEGF10 | c.149A>C (p.His50Pro) c.314A>C (p.His105Pro) | |
| 5 | g.127339152A>G | CA360822056 | MEGF10 | c.149A>G (p.His50Arg) c.314A>G (p.His105Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.127339152A>T | CA360822055 | MEGF10 | c.149A>T (p.His50Leu) c.314A>T (p.His105Leu) | |
| 5 | g.127339153T>A | CA360822057 | MEGF10 | c.150T>A (p.His50Gln) c.315T>A (p.His105Gln) | |
| 5 | g.127339153T>C | CA446422479 | MEGF10 | c.150T>C (p.His50=) c.315T>C (p.His105=) | |
| 5 | g.127339153T>G | CA360822058 | MEGF10 | c.150T>G (p.His50Gln) c.315T>G (p.His105Gln) | |
| 5 | g.127339154C>A | CA360822059 | MEGF10 | c.151C>A (p.Pro51Thr) c.316C>A (p.Pro106Thr) | |
| 5 | g.127339154C= | CA1580813907 | MEGF10 | c.151C= (p.Pro51=) c.316C= (p.Pro106=) | |
| 5 | g.127339154C>G | CA360822060 | MEGF10 | c.151C>G (p.Pro51Ala) c.316C>G (p.Pro106Ala) | |
| 5 | g.127339154C>T | CA360822061 | MEGF10 | c.151C>T (p.Pro51Ser) c.316C>T (p.Pro106Ser) | dbSNP |
| 5 | g.127339155C>A | CA360822062 | MEGF10 | c.152C>A (p.Pro51His) c.317C>A (p.Pro106His) | gnomAD v4 |
| 5 | g.127339155C>G | CA360822063 | MEGF10 | c.152C>G (p.Pro51Arg) c.317C>G (p.Pro106Arg) | |
| 5 | g.127339155C>T | CA360822064 | MEGF10 | c.152C>T (p.Pro51Leu) c.317C>T (p.Pro106Leu) | |
| 5 | g.127339156C>A | CA446422484 | MEGF10 | c.153C>A (p.Pro51=) c.318C>A (p.Pro106=) | |
| 5 | g.127339156C= | CA1580813908 | MEGF10 | c.153C= (p.Pro51=) c.318C= (p.Pro106=) | |
| 5 | g.127339156C>G | CA446422486 | MEGF10 | c.153C>G (p.Pro51=) c.318C>G (p.Pro106=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.127339156C>T | CA3391187 | MEGF10 | c.153C>T (p.Pro51=) c.318C>T (p.Pro106=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.127339157T>A | CA360822065 | MEGF10 | c.154T>A (p.Phe52Ile) c.319T>A (p.Phe107Ile) | |
| 5 | g.127339157T>C | CA360822066 | MEGF10 | c.154T>C (p.Phe52Leu) c.319T>C (p.Phe107Leu) | |
| 5 | g.127339157T>G | CA360822067 | MEGF10 | c.154T>G (p.Phe52Val) c.319T>G (p.Phe107Val) | |
| 5 | g.127339158T>A | CA360822068 | MEGF10 | c.155T>A (p.Phe52Tyr) c.320T>A (p.Phe107Tyr) | |
| 5 | g.127339158T>C | CA360822069 | MEGF10 | c.155T>C (p.Phe52Ser) c.320T>C (p.Phe107Ser) | |
| 5 | g.127339158T>G | CA360822070 | MEGF10 | c.155T>G (p.Phe52Cys) c.320T>G (p.Phe107Cys) | |
| 5 | g.127339159T>A | CA360822072 | MEGF10 | c.156T>A (p.Phe52Leu) c.321T>A (p.Phe107Leu) | |
| 5 | g.127339159T>C | CA10586894 | MEGF10 | c.156T>C (p.Phe52=) c.321T>C (p.Phe107=) | ClinVar dbSNP |
| 5 | g.127339159T>G | CA360822071 | MEGF10 | c.156T>G (p.Phe52Leu) c.321T>G (p.Phe107Leu) | |
| 5 | g.127339159T= | CA1580813909 | MEGF10 | c.156T= (p.Phe52=) c.321T= (p.Phe107=) | |
| 5 | g.127339160G>A | CA360822073 | MEGF10 | c.157G>A (p.Asp53Asn) c.322G>A (p.Asp108Asn) | gnomAD v4 |
| 5 | g.127339160G>C | CA360822074 | MEGF10 | c.157G>C (p.Asp53His) c.322G>C (p.Asp108His) | |
| 5 | g.127339160G= | CA1580813910 | MEGF10 | c.157G= (p.Asp53=) c.322G= (p.Asp108=) | |
| 5 | g.127339160G>T | CA3391188 | MEGF10 | c.157G>T (p.Asp53Tyr) c.322G>T (p.Asp108Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127339161A>C | CA360822075 | MEGF10 | c.158A>C (p.Asp53Ala) c.323A>C (p.Asp108Ala) | |
| 5 | g.127339161A>G | CA360822076 | MEGF10 | c.158A>G (p.Asp53Gly) c.323A>G (p.Asp108Gly) | |
| 5 | g.127339161A>T | CA360822077 | MEGF10 | c.158A>T (p.Asp53Val) c.323A>T (p.Asp108Val) | |
| 5 | g.127339162T>A | CA360822078 | MEGF10 | c.159T>A (p.Asp53Glu) c.324T>A (p.Asp108Glu) | |
| 5 | g.127339162T>C | CA446422515 | MEGF10 | c.159T>C (p.Asp53=) c.324T>C (p.Asp108=) | dbSNP gnomAD v4 |
| 5 | g.127339162T>G | CA360822079 | MEGF10 | c.159T>G (p.Asp53Glu) c.324T>G (p.Asp108Glu) | |
| 5 | g.127339162T= | CA1580813911 | MEGF10 | c.159T= (p.Asp53=) c.324T= (p.Asp108=) | |
| 5 | g.127339163C>A | CA360822080 | MEGF10 | c.160C>A (p.Gln54Lys) c.325C>A (p.Gln109Lys) | ClinVar dbSNP gnomAD v4 |
| 5 | g.127339163C= | CA1580813912 | MEGF10 | c.160C= (p.Gln54=) c.325C= (p.Gln109=) | |
| 5 | g.127339163C>G | CA360822081 | MEGF10 | c.160C>G (p.Gln54Glu) c.325C>G (p.Gln109Glu) | |
| 5 | g.127339163C>T | CA360822082 | MEGF10 | c.160C>T (p.Gln54Ter) c.325C>T (p.Gln109Ter) | |
| 5 | g.127339164A>C | CA360822085 | MEGF10 | c.161A>C (p.Gln54Pro) c.326A>C (p.Gln109Pro) | |
| 5 | g.127339164A>G | CA360822084 | MEGF10 | c.161A>G (p.Gln54Arg) c.326A>G (p.Gln109Arg) | |
| 5 | g.127339164A>T | CA360822083 | MEGF10 | c.161A>T (p.Gln54Leu) c.326A>T (p.Gln109Leu) | |
| 5 | g.127339165A= | CA1580813913 | MEGF10 | c.162A= (p.Gln54=) c.327A= (p.Gln109=) | |
| 5 | g.127339165A>C | CA360822086 | MEGF10 | c.162A>C (p.Gln54His) c.327A>C (p.Gln109His) | |
| 5 | g.127339165A>G | CA3391189 | MEGF10 | c.162A>G (p.Gln54=) c.327A>G (p.Gln109=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.127339165A>T | CA360822087 | MEGF10 | c.162A>T (p.Gln54His) c.327A>T (p.Gln109His) | gnomAD v4 |
| 5 | g.127339166A>C | CA360822088 | MEGF10 | c.163A>C (p.Ile55Leu) c.328A>C (p.Ile110Leu) | |
| 5 | g.127339166A>G | CA360822089 | MEGF10 | c.163A>G (p.Ile55Val) c.328A>G (p.Ile110Val) | |
| 5 | g.127339166A>T | CA360822090 | MEGF10 | c.163A>T (p.Ile55Phe) c.328A>T (p.Ile110Phe) | |
| 5 | g.127339167T>A | CA360822091 | MEGF10 | c.164T>A (p.Ile55Asn) c.329T>A (p.Ile110Asn) | |
| 5 | g.127339167T>C | CA360822092 | MEGF10 | c.164T>C (p.Ile55Thr) c.329T>C (p.Ile110Thr) | |
| 5 | g.127339167T>G | CA360822093 | MEGF10 | c.164T>G (p.Ile55Ser) c.329T>G (p.Ile110Ser) | |
| 5 | g.127339168T>A | CA446422555 | MEGF10 | c.165T>A (p.Ile55=) c.330T>A (p.Ile110=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.127339168T>C | CA127484492 | MEGF10 | c.165T>C (p.Ile55=) c.330T>C (p.Ile110=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.127339168T>G | CA360822094 | MEGF10 | c.165T>G (p.Ile55Met) c.330T>G (p.Ile110Met) | |
| 5 | g.127339168T= | CA1580813914 | MEGF10 | c.165T= (p.Ile55=) c.330T= (p.Ile110=) | |
| 5 | g.127339169T>A | CA360822095 | MEGF10 | c.166T>A (p.Tyr56Asn) c.331T>A (p.Tyr111Asn) | |
| 5 | g.127339169T>C | CA360822096 | MEGF10 | c.166T>C (p.Tyr56His) c.331T>C (p.Tyr111His) | |
| 5 | g.127339169T>G | CA360822097 | MEGF10 | c.166T>G (p.Tyr56Asp) c.331T>G (p.Tyr111Asp) | |
| 5 | g.127339170A>C | CA360822100 | MEGF10 | c.167A>C (p.Tyr56Ser) c.332A>C (p.Tyr111Ser) | |
| 5 | g.127339170A>G | CA360822098 | MEGF10 | c.167A>G (p.Tyr56Cys) c.332A>G (p.Tyr111Cys) | |
| 5 | g.127339170A>T | CA360822099 | MEGF10 | c.167A>T (p.Tyr56Phe) c.332A>T (p.Tyr111Phe) | |
| 5 | g.127339171C>A | CA360822101 | MEGF10 | c.168C>A (p.Tyr56Ter) c.333C>A (p.Tyr111Ter) | |
| 5 | g.127339171C= | CA1580813915 | MEGF10 | c.168C= (p.Tyr56=) c.333C= (p.Tyr111=) | |
| 5 | g.127339171C>G | CA360822102 | MEGF10 | c.168C>G (p.Tyr56Ter) c.333C>G (p.Tyr111Ter) | |
| 5 | g.127339171C>T | CA446422559 | MEGF10 | c.168C>T (p.Tyr56=) c.333C>T (p.Tyr111=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.127339172T>A | CA360822103 | MEGF10 | c.169T>A (p.Tyr57Asn) c.334T>A (p.Tyr112Asn) | |
| 5 | g.127339172T>C | CA360822104 | MEGF10 | c.169T>C (p.Tyr57His) c.334T>C (p.Tyr112His) | |
| 5 | g.127339172T>G | CA360822105 | MEGF10 | c.169T>G (p.Tyr57Asp) c.334T>G (p.Tyr112Asp) | |
| 5 | g.127339173A= | CA1580813916 | MEGF10 | c.170A= (p.Tyr57=) c.335A= (p.Tyr112=) | |
| 5 | g.127339173A>C | CA360822106 | MEGF10 | c.170A>C (p.Tyr57Ser) c.335A>C (p.Tyr112Ser) | |
| 5 | g.127339173A>G | CA360822107 | MEGF10 | c.170A>G (p.Tyr57Cys) c.335A>G (p.Tyr112Cys) | dbSNP |
| 5 | g.127339173A>T | CA360822108 | MEGF10 | c.170A>T (p.Tyr57Phe) c.335A>T (p.Tyr112Phe) | |
| 5 | g.127339174C>A | CA360822109 | MEGF10 | c.171C>A (p.Tyr57Ter) c.336C>A (p.Tyr112Ter) | |
| 5 | g.127339174C= | CA1580813917 | MEGF10 | c.171C= (p.Tyr57=) c.336C= (p.Tyr112=) | |
| 5 | g.127339174C>G | CA360822110 | MEGF10 | c.171C>G (p.Tyr57Ter) c.336C>G (p.Tyr112Ter) | |
| 5 | g.127339174C>T | CA127484493 | MEGF10 | c.171C>T (p.Tyr57=) c.336C>T (p.Tyr112=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.127339175A>C | CA360822111 | MEGF10 | c.172A>C (p.Thr58Pro) c.337A>C (p.Thr113Pro) | |
| 5 | g.127339175A>G | CA360822113 | MEGF10 | c.172A>G (p.Thr58Ala) c.337A>G (p.Thr113Ala) | |
| 5 | g.127339175A>T | CA360822112 | MEGF10 | c.172A>T (p.Thr58Ser) c.337A>T (p.Thr113Ser) | dbSNP |
| 5 | g.127339176C>A | CA360822114 | MEGF10 | c.173C>A (p.Thr58Lys) c.338C>A (p.Thr113Lys) | |
| 5 | g.127339176C= | CA1580813918 | MEGF10 | c.173C= (p.Thr58=) c.338C= (p.Thr113=) | |
| 5 | g.127339176C>G | CA360822115 | MEGF10 | c.173C>G (p.Thr58Arg) c.338C>G (p.Thr113Arg) | |
| 5 | g.127339176C>T | CA127484494 | MEGF10 | c.173C>T (p.Thr58Met) c.338C>T (p.Thr113Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.127339177G>A | CA3391190 | MEGF10 | c.174G>A (p.Thr58=) c.339G>A (p.Thr113=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127339177G>C | CA446422579 | MEGF10 | c.174G>C (p.Thr58=) c.339G>C (p.Thr113=) | |
| 5 | g.127339177G= | CA1580813919 | MEGF10 | c.174G= (p.Thr58=) c.339G= (p.Thr113=) | |
| 5 | g.127339177G>T | CA3391191 | MEGF10 | c.174G>T (p.Thr58=) c.339G>T (p.Thr113=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127339178A>C | CA360822116 | MEGF10 | c.175A>C (p.Ser59Arg) c.340A>C (p.Ser114Arg) | |
| 5 | g.127339178A>G | CA360822117 | MEGF10 | c.175A>G (p.Ser59Gly) c.340A>G (p.Ser114Gly) | |
| 5 | g.127339178A>T | CA360822118 | MEGF10 | c.175A>T (p.Ser59Cys) c.340A>T (p.Ser114Cys) | |
| 5 | g.127339179G>A | CA360822119 | MEGF10 | c.176G>A (p.Ser59Asn) c.341G>A (p.Ser114Asn) | |
| 5 | g.127339179G>C | CA360822120 | MEGF10 | c.176G>C (p.Ser59Thr) c.341G>C (p.Ser114Thr) | |
| 5 | g.127339179G>T | CA360822121 | MEGF10 | c.176G>T (p.Ser59Ile) c.341G>T (p.Ser114Ile) | |
| 5 | g.127339180C>A | CA360822122 | MEGF10 | c.177C>A (p.Ser59Arg) c.342C>A (p.Ser114Arg) | |
| 5 | g.127339180C>G | CA360822123 | MEGF10 | c.177C>G (p.Ser59Arg) c.342C>G (p.Ser114Arg) | |
| 5 | g.127339180C>T | CA446422590 | MEGF10 | c.177C>T (p.Ser59=) c.342C>T (p.Ser114=) | |
| 5 | g.127339181T>A | CA360822126 | MEGF10 | c.178T>A (p.Cys60Ser) c.343T>A (p.Cys115Ser) | |
| 5 | g.127339181T>C | CA360822125 | MEGF10 | c.178T>C (p.Cys60Arg) c.343T>C (p.Cys115Arg) | |
| 5 | g.127339181T>G | CA360822124 | MEGF10 | c.178T>G (p.Cys60Gly) c.343T>G (p.Cys115Gly) | |
| 5 | g.127339182G>A | CA360822127 | MEGF10 | c.179G>A (p.Cys60Tyr) c.344G>A (p.Cys115Tyr) | |
| 5 | g.127339182G>C | CA360822128 | MEGF10 | c.179G>C (p.Cys60Ser) c.344G>C (p.Cys115Ser) | gnomAD v4 |
| 5 | g.127339182G>T | CA360822129 | MEGF10 | c.179G>T (p.Cys60Phe) c.344G>T (p.Cys115Phe) | |
| 5 | g.127339183C>A | CA360822130 | MEGF10 | c.180C>A (p.Cys60Ter) c.345C>A (p.Cys115Ter) | |
| 5 | g.127339183C>G | CA360822131 | MEGF10 | c.180C>G (p.Cys60Trp) c.345C>G (p.Cys115Trp) | |
| 5 | g.127339183C>T | CA446422601 | MEGF10 | c.180C>T (p.Cys60=) c.345C>T (p.Cys115=) | |
| 5 | g.127339184A= | CA1580813920 | MEGF10 | c.181A= (p.Thr61=) c.346A= (p.Thr116=) | |
| 5 | g.127339184A>C | CA360822132 | MEGF10 | c.181A>C (p.Thr61Pro) c.346A>C (p.Thr116Pro) | gnomAD v4 |
| 5 | g.127339184A>G | CA360822133 | MEGF10 | c.181A>G (p.Thr61Ala) c.346A>G (p.Thr116Ala) | dbSNP |
| 5 | g.127339184A>T | CA360822134 | MEGF10 | c.181A>T (p.Thr61Ser) c.346A>T (p.Thr116Ser) | |
| 5 | g.127339185C>A | CA360822135 | MEGF10 | c.182C>A (p.Thr61Asn) c.347C>A (p.Thr116Asn) | |
| 5 | g.127339185C>G | CA360822136 | MEGF10 | c.182C>G (p.Thr61Ser) c.347C>G (p.Thr116Ser) | gnomAD v4 |
| 5 | g.127339185C>T | CA360822137 | MEGF10 | c.182C>T (p.Thr61Ile) c.347C>T (p.Thr116Ile) | gnomAD v4 |
| 5 | g.127339186T>A | CA446422606 | MEGF10 | c.183T>A (p.Thr61=) c.348T>A (p.Thr116=) | |
| 5 | g.127339186T>C | CA446422604 | MEGF10 | c.183T>C (p.Thr61=) c.348T>C (p.Thr116=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.127339186T>G | CA446422603 | MEGF10 | c.183T>G (p.Thr61=) c.348T>G (p.Thr116=) | |
| 5 | g.127339186T= | CA1580813921 | MEGF10 | c.183T= (p.Thr61=) c.348T= (p.Thr116=) | |
| 5 | g.127339187G>A | CA360822138 | MEGF10 | c.184G>A (p.Asp62Asn) c.349G>A (p.Asp117Asn) | |
| 5 | g.127339187G>C | CA360822139 | MEGF10 | c.184G>C (p.Asp62His) c.349G>C (p.Asp117His) | dbSNP |
| 5 | g.127339187G= | CA1580813922 | MEGF10 | c.184G= (p.Asp62=) c.349G= (p.Asp117=) | |
| 5 | g.127339187G>T | CA360822140 | MEGF10 | c.184G>T (p.Asp62Tyr) c.349G>T (p.Asp117Tyr) | |
| 5 | g.127339188A>C | CA360822143 | MEGF10 | c.185A>C (p.Asp62Ala) c.350A>C (p.Asp117Ala) | |
| 5 | g.127339188A>G | CA360822142 | MEGF10 | c.185A>G (p.Asp62Gly) c.350A>G (p.Asp117Gly) | ClinVar |
| 5 | g.127339188A>T | CA360822141 | MEGF10 | c.185A>T (p.Asp62Val) c.350A>T (p.Asp117Val) | |
| 5 | g.127339189C>A | CA360822144 | MEGF10 | c.186C>A (p.Asp62Glu) c.351C>A (p.Asp117Glu) | |
| 5 | g.127339189C= | CA1580813923 | MEGF10 | c.186C= (p.Asp62=) c.351C= (p.Asp117=) | |
| 5 | g.127339189C>G | CA360822145 | MEGF10 | c.186C>G (p.Asp62Glu) c.351C>G (p.Asp117Glu) | |
| 5 | g.127339189C>T | CA127484495 | MEGF10 | c.186C>T (p.Asp62=) c.351C>T (p.Asp117=) | dbSNP |
| 5 | g.127339190A>C | CA360822146 | MEGF10 | c.187A>C (p.Ile63Leu) c.352A>C (p.Ile118Leu) | |
| 5 | g.127339190A>G | CA360822147 | MEGF10 | c.187A>G (p.Ile63Val) c.352A>G (p.Ile118Val) | gnomAD v4 |
| 5 | g.127339190A>T | CA360822148 | MEGF10 | c.187A>T (p.Ile63Phe) c.352A>T (p.Ile118Phe) | |
| 5 | g.127339190_127339203delinsATTCTAAACTGGTT | CA1580813924 | MEGF10 | c.187_200delinsATTCTAAACTGGTT (p.Ile63=) c.352_365delinsATTCTAAACTGGTT (p.Ile118=) | |
| 5 | g.127339191T>A | CA360822151 | MEGF10 | c.188T>A (p.Ile63Asn) c.353T>A (p.Ile118Asn) | |
| 5 | g.127339191T>C | CA360822150 | MEGF10 | c.188T>C (p.Ile63Thr) c.353T>C (p.Ile118Thr) | |
| 5 | g.127339191T>G | CA360822149 | MEGF10 | c.188T>G (p.Ile63Ser) c.353T>G (p.Ile118Ser) | |
| 5 | g.127339192_127339204del | CA1580813925 | MEGF10 | c.189_201del (p.Leu64AsnfsTer?) c.354_366del (p.Leu119AsnfsTer?) | dbSNP |
| 5 | g.127339192T>A | CA446422621 | MEGF10 | c.189T>A (p.Ile63=) c.354T>A (p.Ile118=) | |
| 5 | g.127339192T>C | CA446422622 | MEGF10 | c.189T>C (p.Ile63=) c.354T>C (p.Ile118=) | |
| 5 | g.127339192T>G | CA360822152 | MEGF10 | c.189T>G (p.Ile63Met) c.354T>G (p.Ile118Met) | |
| 5 | g.127339193C>A | CA360822153 | MEGF10 | c.190C>A (p.Leu64Ile) c.355C>A (p.Leu119Ile) | |
| 5 | g.127339193C>G | CA360822154 | MEGF10 | c.190C>G (p.Leu64Val) c.355C>G (p.Leu119Val) | |
| 5 | g.127339193C>T | CA446422626 | MEGF10 | c.190C>T (p.Leu64=) c.355C>T (p.Leu119=) | |
| 5 | g.127339194T>A | CA360822155 | MEGF10 | c.191T>A (p.Leu64Gln) c.356T>A (p.Leu119Gln) | |
| 5 | g.127339194T>C | CA360822156 | MEGF10 | c.191T>C (p.Leu64Pro) c.356T>C (p.Leu119Pro) | |
| 5 | g.127339194T>G | CA360822157 | MEGF10 | c.191T>G (p.Leu64Arg) c.356T>G (p.Leu119Arg) | |
| 5 | g.127339195A>C | CA446422632 | MEGF10 | c.192A>C (p.Leu64=) c.357A>C (p.Leu119=) | |
| 5 | g.127339195A>G | CA446422634 | MEGF10 | c.192A>G (p.Leu64=) c.357A>G (p.Leu119=) | |
| 5 | g.127339195A>T | CA446422636 | MEGF10 | c.192A>T (p.Leu64=) c.357A>T (p.Leu119=) | |
| 5 | g.127339196A>C | CA360822158 | MEGF10 | c.193A>C (p.Asn65His) c.358A>C (p.Asn120His) | |
| 5 | g.127339196A>G | CA360822160 | MEGF10 | c.193A>G (p.Asn65Asp) c.358A>G (p.Asn120Asp) | |
| 5 | g.127339196A>T | CA360822159 | MEGF10 | c.193A>T (p.Asn65Tyr) c.358A>T (p.Asn120Tyr) | |
| 5 | g.127339197A>C | CA360822161 | MEGF10 | c.194A>C (p.Asn65Thr) c.359A>C (p.Asn120Thr) | |
| 5 | g.127339197A>G | CA360822162 | MEGF10 | c.194A>G (p.Asn65Ser) c.359A>G (p.Asn120Ser) | |
| 5 | g.127339197A>T | CA360822163 | MEGF10 | c.194A>T (p.Asn65Ile) c.359A>T (p.Asn120Ile) | |
| 5 | g.127339198C>A | CA360822164 | MEGF10 | c.195C>A (p.Asn65Lys) c.360C>A (p.Asn120Lys) | |
| 5 | g.127339198C>G | CA360822165 | MEGF10 | c.195C>G (p.Asn65Lys) c.360C>G (p.Asn120Lys) | ClinVar |
| 5 | g.127339198C>T | CA446422648 | MEGF10 | c.195C>T (p.Asn65=) c.360C>T (p.Asn120=) | |
| 5 | g.127339199T>A | CA360822166 | MEGF10 | c.196T>A (p.Trp66Arg) c.361T>A (p.Trp121Arg) | |
| 5 | g.127339199T>C | CA360822405 | MEGF10 | c.196T>C (p.Trp66Arg) c.361T>C (p.Trp121Arg) | COSMIC |
| 5 | g.127339199T>G | CA360822406 | MEGF10 | c.196T>G (p.Trp66Gly) c.361T>G (p.Trp121Gly) | |
| 5 | g.127339200G>A | CA360822407 | MEGF10 | c.197G>A (p.Trp66Ter) c.362G>A (p.Trp121Ter) | |
| 5 | g.127339200G>C | CA360822408 | MEGF10 | c.197G>C (p.Trp66Ser) c.362G>C (p.Trp121Ser) | |
| 5 | g.127339200G= | CA1580813926 | MEGF10 | c.197G= (p.Trp66=) c.362G= (p.Trp121=) | |
| 5 | g.127339200G>T | CA360822409 | MEGF10 | c.197G>T (p.Trp66Leu) c.362G>T (p.Trp121Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.127339200_127339201delinsGG | CA1580813927 | MEGF10 | c.197_198delinsGG (p.Trp66=) c.362_363delinsGG (p.Trp121=) | |
| 5 | g.127339201del | CA2675086710 | MEGF10 | c.198del (p.Trp66CysfsTer?) c.363del (p.Trp121CysfsTer?) | gnomAD v4 |
| 5 | g.127339201G>A | CA360822410 | MEGF10 | c.198G>A (p.Trp66Ter) c.363G>A (p.Trp121Ter) | |
| 5 | g.127339201G>C | CA360822412 | MEGF10 | c.198G>C (p.Trp66Cys) c.363G>C (p.Trp121Cys) | |
| 5 | g.127339201G>T | CA360822411 | MEGF10 | c.198G>T (p.Trp66Cys) c.363G>T (p.Trp121Cys) | |
| 5 | g.127339201delinsACATTC | CA915942544 | MEGF10 | c.198delinsACATTC (p.Trp66Ter) c.363delinsACATTC (p.Trp121Ter) | ClinVar dbSNP |
| 5 | g.127339202T>A | CA360822413 | MEGF10 | c.199T>A (p.Phe67Ile) c.364T>A (p.Phe122Ile) | |
| 5 | g.127339202T>C | CA360822415 | MEGF10 | c.199T>C (p.Phe67Leu) c.364T>C (p.Phe122Leu) | dbSNP |
| 5 | g.127339202T>G | CA360822414 | MEGF10 | c.199T>G (p.Phe67Val) c.364T>G (p.Phe122Val) | |
| 5 | g.127339202T= | CA1580813928 | MEGF10 | c.199T= (p.Phe67=) c.364T= (p.Phe122=) | |
| 5 | g.127339203T>A | CA360822416 | MEGF10 | c.200T>A (p.Phe67Tyr) c.365T>A (p.Phe122Tyr) | |
| 5 | g.127339203T>C | CA360822417 | MEGF10 | c.200T>C (p.Phe67Ser) c.365T>C (p.Phe122Ser) | |
| 5 | g.127339203T>G | CA360822418 | MEGF10 | c.200T>G (p.Phe67Cys) c.365T>G (p.Phe122Cys) | |
| 5 | g.127339204T>A | CA360822419 | MEGF10 | c.201T>A (p.Phe67Leu) c.366T>A (p.Phe122Leu) | |
| 5 | g.127339204T>C | CA446422664 | MEGF10 | c.201T>C (p.Phe67=) c.366T>C (p.Phe122=) | |
| 5 | g.127339204T>G | CA360822420 | MEGF10 | c.201T>G (p.Phe67Leu) c.366T>G (p.Phe122Leu) | |
| 5 | g.127339205A>C | CA360822421 | MEGF10 | c.202A>C (p.Lys68Gln) c.367A>C (p.Lys123Gln) | |
| 5 | g.127339205A>G | CA360822422 | MEGF10 | c.202A>G (p.Lys68Glu) c.367A>G (p.Lys123Glu) | |
| 5 | g.127339205A>T | CA360822423 | MEGF10 | c.202A>T (p.Lys68Ter) c.367A>T (p.Lys123Ter) | |
| 5 | g.127339206A= | CA1580813929 | MEGF10 | c.203A= (p.Lys68=) c.368A= (p.Lys123=) | |
| 5 | g.127339206A>C | CA360822424 | MEGF10 | c.203A>C (p.Lys68Thr) c.368A>C (p.Lys123Thr) | |
| 5 | g.127339206A>G | CA360822425 | MEGF10 | c.203A>G (p.Lys68Arg) c.368A>G (p.Lys123Arg) | dbSNP gnomAD v4 |
| 5 | g.127339206A>T | CA360822426 | MEGF10 | c.203A>T (p.Lys68Ile) c.368A>T (p.Lys123Ile) | |
| 5 | g.127339207A>C | CA360822428 | MEGF10 | c.204A>C (p.Lys68Asn) c.369A>C (p.Lys123Asn) | |
| 5 | g.127339207A>G | CA446422674 | MEGF10 | c.204A>G (p.Lys68=) c.369A>G (p.Lys123=) | gnomAD v4 |
| 5 | g.127339207A>T | CA360822427 | MEGF10 | c.204A>T (p.Lys68Asn) c.369A>T (p.Lys123Asn) | |
| 5 | g.127339208T>A | CA360822429 | MEGF10 | c.205T>A (p.Cys69Ser) c.370T>A (p.Cys124Ser) | |
| 5 | g.127339208T>C | CA360822430 | MEGF10 | c.205T>C (p.Cys69Arg) c.370T>C (p.Cys124Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.127339208T>G | CA360822431 | MEGF10 | c.205T>G (p.Cys69Gly) c.370T>G (p.Cys124Gly) | gnomAD v4 |
| 5 | g.127339208T= | CA1580813930 | MEGF10 | c.205T= (p.Cys69=) c.370T= (p.Cys124=) | |
| 5 | g.127339209G>A | CA360822432 | MEGF10 | c.206G>A (p.Cys69Tyr) c.371G>A (p.Cys124Tyr) | |
| 5 | g.127339209G>C | CA360822433 | MEGF10 | c.206G>C (p.Cys69Ser) c.371G>C (p.Cys124Ser) | |
| 5 | g.127339209G>T | CA360822434 | MEGF10 | c.206G>T (p.Cys69Phe) c.371G>T (p.Cys124Phe) | gnomAD v4 |
| 5 | g.127339210C>A | CA360822435 | MEGF10 | c.207C>A (p.Cys69Ter) c.372C>A (p.Cys124Ter) | |
| 5 | g.127339210C>G | CA360822436 | MEGF10 | c.207C>G (p.Cys69Trp) c.372C>G (p.Cys124Trp) | |
| 5 | g.127339210C>T | CA446422689 | MEGF10 | c.207C>T (p.Cys69=) c.372C>T (p.Cys124=) | |
| 5 | g.127339211A>C | CA360822437 | MEGF10 | c.208A>C (p.Thr70Pro) c.373A>C (p.Thr125Pro) | |
| 5 | g.127339211A>G | CA360822438 | MEGF10 | c.208A>G (p.Thr70Ala) c.373A>G (p.Thr125Ala) | gnomAD v4 |
| 5 | g.127339211A>T | CA360822439 | MEGF10 | c.208A>T (p.Thr70Ser) c.373A>T (p.Thr125Ser) | |
| 5 | g.127339212C>A | CA360822440 | MEGF10 | c.209C>A (p.Thr70Lys) c.374C>A (p.Thr125Lys) | gnomAD v4 |
| 5 | g.127339212C= | CA1580813931 | MEGF10 | c.209C= (p.Thr70=) c.374C= (p.Thr125=) | |
| 5 | g.127339212C>G | CA360822441 | MEGF10 | c.209C>G (p.Thr70Arg) c.374C>G (p.Thr125Arg) | |
| 5 | g.127339212C>T | CA3391192 | MEGF10 | c.209C>T (p.Thr70Met) c.374C>T (p.Thr125Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.127339213G>A | CA3391193 | MEGF10 | c.210G>A (p.Thr70=) c.375G>A (p.Thr125=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127339213G>C | CA446422697 | MEGF10 | c.210G>C (p.Thr70=) c.375G>C (p.Thr125=) | |
| 5 | g.127339213G= | CA1580813932 | MEGF10 | c.210G= (p.Thr70=) c.375G= (p.Thr125=) | |
| 5 | g.127339213G>T | CA446422695 | MEGF10 | c.210G>T (p.Thr70=) c.375G>T (p.Thr125=) | COSMIC |
| 5 | g.127339214C>A | CA446422701 | MEGF10 | c.211C>A (p.Arg71=) c.376C>A (p.Arg126=) | gnomAD v4 |
| 5 | g.127339214C= | CA1580813933 | MEGF10 | c.211C= (p.Arg71=) c.376C= (p.Arg126=) | |
| 5 | g.127339214C>G | CA360822442 | MEGF10 | c.211C>G (p.Arg71Gly) c.376C>G (p.Arg126Gly) | |
| 5 | g.127339214C>T | CA129576 | MEGF10 | c.211C>T (p.Arg71Trp) c.376C>T (p.Arg126Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.127339215G>A | CA10618915 | MEGF10 | c.212G>A (p.Arg71Gln) c.377G>A (p.Arg126Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.127339215G>C | CA360822443 | MEGF10 | c.212G>C (p.Arg71Pro) c.377G>C (p.Arg126Pro) | |
| 5 | g.127339215G= | CA1580813934 | MEGF10 | c.212G= (p.Arg71=) c.377G= (p.Arg126=) | |
| 5 | g.127339215G>T | CA360822444 | MEGF10 | c.212G>T (p.Arg71Leu) c.377G>T (p.Arg126Leu) | |
| 5 | g.127339216G>A | CA3391194 | MEGF10 | c.213G>A (p.Arg71=) c.378G>A (p.Arg126=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127339216G>C | CA446422716 | MEGF10 | c.213G>C (p.Arg71=) c.378G>C (p.Arg126=) | |
| 5 | g.127339216G= | CA1580813935 | MEGF10 | c.213G= (p.Arg71=) c.378G= (p.Arg126=) | |
| 5 | g.127339216G>T | CA446422718 | MEGF10 | c.213G>T (p.Arg71=) c.378G>T (p.Arg126=) | |
| 5 | g.127339217C>A | CA360822445 | MEGF10 | c.214C>A (p.His72Asn) c.379C>A (p.His127Asn) | |
| 5 | g.127339217C>G | CA360822446 | MEGF10 | c.214C>G (p.His72Asp) c.379C>G (p.His127Asp) | |
| 5 | g.127339217C>T | CA360822447 | MEGF10 | c.214C>T (p.His72Tyr) c.379C>T (p.His127Tyr) | |
| 5 | g.127339218A>C | CA360822448 | MEGF10 | c.215A>C (p.His72Pro) c.380A>C (p.His127Pro) | |
| 5 | g.127339218A>G | CA360822449 | MEGF10 | c.215A>G (p.His72Arg) c.380A>G (p.His127Arg) | |
| 5 | g.127339218A>T | CA360822450 | MEGF10 | c.215A>T (p.His72Leu) c.380A>T (p.His127Leu) | |
| 5 | g.127339219C>A | CA360822452 | MEGF10 | c.216C>A (p.His72Gln) c.381C>A (p.His127Gln) | gnomAD v4 |
| 5 | g.127339219C= | CA1580813936 | MEGF10 | c.216C= (p.His72=) c.381C= (p.His127=) | |
| 5 | g.127339219C>G | CA360822451 | MEGF10 | c.216C>G (p.His72Gln) c.381C>G (p.His127Gln) | |
| 5 | g.127339219C>T | CA446422724 | MEGF10 | c.216C>T (p.His72=) c.381C>T (p.His127=) | |
| 5 | g.127339220A>C | CA446422727 | MEGF10 | c.217A>C (p.Arg73=) c.382A>C (p.Arg128=) | |
| 5 | g.127339220A>G | CA360822453 | MEGF10 | c.217A>G (p.Arg73Gly) c.382A>G (p.Arg128Gly) | gnomAD v4 |
| 5 | g.127339220A>T | CA360822454 | MEGF10 | c.217A>T (p.Arg73Ter) c.382A>T (p.Arg128Ter) | |
| 5 | g.127339220dup | CA16618104 | MEGF10 | c.217dup (p.Arg73LysfsTer17) c.382dup (p.Arg128LysfsTer17) | ClinVar dbSNP gnomAD v4 |
| 5 | g.127339221G>A | CA360822455 | MEGF10 | c.218G>A (p.Arg73Lys) c.383G>A (p.Arg128Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127339221G>C | CA360822456 | MEGF10 | c.218G>C (p.Arg73Thr) c.383G>C (p.Arg128Thr) | |
| 5 | g.127339221G= | CA1580813937 | MEGF10 | c.218G= (p.Arg73=) c.383G= (p.Arg128=) | |
| 5 | g.127339221G>T | CA360822457 | MEGF10 | c.218G>T (p.Arg73Ile) c.383G>T (p.Arg128Ile) | |
| 5 | g.127339222G>A | CA360822458 | MEGF10 | c.218+1G>A (n.218+1G>A) c.383+1G>A (n.383+1G>A) | |
| 5 | g.127339222G>C | CA360822459 | MEGF10 | c.218+1G>C (n.218+1G>C) c.383+1G>C (n.383+1G>C) | |
| 5 | g.127339222G>T | CA360822460 | MEGF10 | c.218+1G>T (n.218+1G>T) c.383+1G>T (n.383+1G>T) | |
| 5 | g.127339223T>A | CA360822461 | MEGF10 | c.218+2T>A (n.218+2T>A) c.383+2T>A (n.383+2T>A) | gnomAD v4 |
| 5 | g.127339223T>C | CA360822462 | MEGF10 | c.218+2T>C (n.218+2T>C) c.383+2T>C (n.383+2T>C) | |
| 5 | g.127339223T>G | CA360822463 | MEGF10 | c.218+2T>G (n.218+2T>G) c.383+2T>G (n.383+2T>G) | |
| 5 | g.127339225A= | CA1580813938 | MEGF10 | c.218+4A= (n.218+4A=) c.383+4A= (n.383+4A=) | |
| 5 | g.127339225A>G | CA562866129 | MEGF10 | c.218+4A>G (n.218+4A>G) c.383+4A>G (n.383+4A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127339226T>C | CA3391195 | MEGF10 | c.218+5T>C (n.218+5T>C) c.383+5T>C (n.383+5T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127339226T= | CA1580813939 | MEGF10 | c.218+5T= (n.218+5T=) c.383+5T= (n.383+5T=) | |
| 5 | g.127339229A= | CA1580813940 | MEGF10 | c.218+8A= (n.218+8A=) c.383+8A= (n.383+8A=) | |
| 5 | g.127339229A>C | CA803539604 | MEGF10 | c.218+8A>C (n.218+8A>C) c.383+8A>C (n.383+8A>C) | ClinVar dbSNP |
| 5 | g.127339231G>A | CA1580813942 | MEGF10 | c.218+10G>A (n.218+10G>A) c.383+10G>A (n.383+10G>A) | dbSNP gnomAD v4 |
| 5 | g.127339231G= | CA1580813941 | MEGF10 | c.218+10G= (n.218+10G=) c.383+10G= (n.383+10G=) | |
| 5 | g.127339232C>A | CA2675086711 | MEGF10 | c.218+11C>A (n.218+11C>A) c.383+11C>A (n.383+11C>A) | gnomAD v4 |
| 5 | g.127339232C>T | CA2580072526 | MEGF10 | c.218+11C>T (n.218+11C>T) c.383+11C>T (n.383+11C>T) | ClinVar gnomAD v4 |
| 5 | g.127339235A>C | CA2578393730 | MEGF10 | c.218+14A>C (n.218+14A>C) c.383+14A>C (n.383+14A>C) | gnomAD v4 |
| 5 | g.127339235A>G | CA2675086712 | MEGF10 | c.218+14A>G (n.218+14A>G) c.383+14A>G (n.383+14A>G) | gnomAD v4 |
| 5 | g.127339236G>C | CA650265868 | MEGF10 | c.218+15G>C (n.218+15G>C) c.383+15G>C (n.383+15G>C) | gnomAD v4 COSMIC COSMIC |
| 5 | g.127339237G>A | CA2675086713 | MEGF10 | c.218+16G>A (n.218+16G>A) c.383+16G>A (n.383+16G>A) | ClinVar gnomAD v4 |
| 5 | g.127339237G>T | CA2675086714 | MEGF10 | c.218+16G>T (n.218+16G>T) c.383+16G>T (n.383+16G>T) | dbSNP gnomAD v4 |
| 5 | g.127339238C>A | CA2675086715 | MEGF10 | c.218+17C>A (n.218+17C>A) c.383+17C>A (n.383+17C>A) | gnomAD v4 |
| 5 | g.127339238C= | CA1580813943 | MEGF10 | c.218+17C= (n.218+17C=) c.383+17C= (n.383+17C=) | |
| 5 | g.127339238C>G | CA3391196 | MEGF10 | c.218+17C>G (n.218+17C>G) c.383+17C>G (n.383+17C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |