Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.96253903_96254383del | CA2573135942 | TMEM127 | c.410-265_625del c.158-265_373del c.-509-265_-294del | ClinVar dbSNP |
2 | g.96253990_96254064del | CA2751311961 | TMEM127 | c.462_536del (p.Ile154_Leu179delinsMet) c.210_284del (p.Ile70_Leu95delinsMet) c.-457_-383del (n.-457_-383del) | |
2 | g.96254057G>A | CA427808111 | TMEM127 | c.468C>T (p.Ala156=) c.216C>T (p.Ala72=) c.-451C>T (n.-451C>T) | ClinVar dbSNP |
2 | g.96254057G>C | CA427808112 | TMEM127 | c.468C>G (p.Ala156=) c.216C>G (p.Ala72=) c.-451C>G (n.-451C>G) | |
2 | g.96254057G= | CA1272522138 | TMEM127 | c.468C= (p.Ala156=) c.216C= (p.Ala72=) c.-451C= (n.-451C=) | |
2 | g.96254057G>T | CA1777300 | TMEM127 | c.468C>A (p.Ala156=) c.216C>A (p.Ala72=) c.-451C>A (n.-451C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.96254058G>A | CA52412116 | TMEM127 | c.467C>T (p.Ala156Val) c.215C>T (p.Ala72Val) c.-452C>T (n.-452C>T) | dbSNP |
2 | g.96254058G>C | CA347652904 | TMEM127 | c.467C>G (p.Ala156Gly) c.215C>G (p.Ala72Gly) c.-452C>G (n.-452C>G) | |
2 | g.96254058G= | CA1272522139 | TMEM127 | c.467C= (p.Ala156=) c.215C= (p.Ala72=) c.-452C= (n.-452C=) | |
2 | g.96254058G>T | CA347652907 | TMEM127 | c.467C>A (p.Ala156Asp) c.215C>A (p.Ala72Asp) c.-452C>A (n.-452C>A) | |
2 | g.96254059C>A | CA347652911 | TMEM127 | c.466G>T (p.Ala156Ser) c.214G>T (p.Ala72Ser) c.-453G>T (n.-453G>T) | dbSNP |
2 | g.96254059C>G | CA347652913 | TMEM127 | c.466G>C (p.Ala156Pro) c.214G>C (p.Ala72Pro) c.-453G>C (n.-453G>C) | ClinVar |
2 | g.96254059C>T | CA347652914 | TMEM127 | c.466G>A (p.Ala156Thr) c.214G>A (p.Ala72Thr) c.-453G>A (n.-453G>A) | |
2 | g.96254060dup | CA2838795569 | TMEM127 | c.466dup (p.Ala156GlyfsTer7) c.214dup (p.Ala72GlyfsTer7) c.-453dup (n.-453dup) | |
2 | g.96254060C>A | CA347652916 | TMEM127 | c.465G>T (p.Leu155Phe) c.213G>T (p.Leu71Phe) c.-454G>T (n.-454G>T) | |
2 | g.96254060C>G | CA347652919 | TMEM127 | c.465G>C (p.Leu155Phe) c.213G>C (p.Leu71Phe) c.-454G>C (n.-454G>C) | |
2 | g.96254060C>T | CA427808116 | TMEM127 | c.465G>A (p.Leu155=) c.213G>A (p.Leu71=) c.-454G>A (n.-454G>A) | |
2 | g.96254061A= | CA1272522140 | TMEM127 | c.464T= (p.Leu155=) c.212T= (p.Leu71=) c.-455T= (n.-455T=) | |
2 | g.96254061A>C | CA347652922 | TMEM127 | c.464T>G (p.Leu155Trp) c.212T>G (p.Leu71Trp) c.-455T>G (n.-455T>G) | |
2 | g.96254061A>G | CA347652923 | TMEM127 | c.464T>C (p.Leu155Ser) c.212T>C (p.Leu71Ser) c.-455T>C (n.-455T>C) | |
2 | g.96254061A>T | CA10588348 | TMEM127 | c.464T>A (p.Leu155Ter) c.212T>A (p.Leu71Ter) c.-455T>A (n.-455T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254062A>C | CA347652925 | TMEM127 | c.463T>G (p.Leu155Val) c.211T>G (p.Leu71Val) c.-456T>G (n.-456T>G) | gnomAD v4 |
2 | g.96254062A>G | CA427808120 | TMEM127 | c.463T>C (p.Leu155=) c.211T>C (p.Leu71=) c.-456T>C (n.-456T>C) | ClinVar dbSNP |
2 | g.96254062A>T | CA347652926 | TMEM127 | c.463T>A (p.Leu155Met) c.211T>A (p.Leu71Met) c.-456T>A (n.-456T>A) | |
2 | g.96254063G>A | CA427808122 | TMEM127 | c.462C>T (p.Ile154=) c.210C>T (p.Ile70=) c.-457C>T (n.-457C>T) | |
2 | g.96254063G>C | CA52412122 | TMEM127 | c.462C>G (p.Ile154Met) c.210C>G (p.Ile70Met) c.-457C>G (n.-457C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.96254063G= | CA1272522141 | TMEM127 | c.462C= (p.Ile154=) c.210C= (p.Ile70=) c.-457C= (n.-457C=) | |
2 | g.96254063G>T | CA427808121 | TMEM127 | c.462C>A (p.Ile154=) c.210C>A (p.Ile70=) c.-457C>A (n.-457C>A) | |
2 | g.96254064A= | CA1272522142 | TMEM127 | c.461T= (p.Ile154=) c.209T= (p.Ile70=) c.-458T= (n.-458T=) | |
2 | g.96254064A>C | CA347652931 | TMEM127 | c.461T>G (p.Ile154Ser) c.209T>G (p.Ile70Ser) c.-458T>G (n.-458T>G) | |
2 | g.96254064A>G | CA347652929 | TMEM127 | c.461T>C (p.Ile154Thr) c.209T>C (p.Ile70Thr) c.-458T>C (n.-458T>C) | |
2 | g.96254064A>T | CA347652927 | TMEM127 | c.461T>A (p.Ile154Asn) c.209T>A (p.Ile70Asn) c.-458T>A (n.-458T>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.96254065T>A | CA347652934 | TMEM127 | c.460A>T (p.Ile154Phe) c.208A>T (p.Ile70Phe) c.-459A>T (n.-459A>T) | gnomAD v4 |
2 | g.96254065T>C | CA347652940 | TMEM127 | c.460A>G (p.Ile154Val) c.208A>G (p.Ile70Val) c.-459A>G (n.-459A>G) | COSMIC |
2 | g.96254065T>G | CA347652937 | TMEM127 | c.460A>C (p.Ile154Leu) c.208A>C (p.Ile70Leu) c.-459A>C (n.-459A>C) | |
2 | g.96254066G>A | CA52412132 | TMEM127 | c.459C>T (p.Leu153=) c.207C>T (p.Leu69=) c.-460C>T (n.-460C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.96254066G>C | CA427808132 | TMEM127 | c.459C>G (p.Leu153=) c.207C>G (p.Leu69=) c.-460C>G (n.-460C>G) | |
2 | g.96254066G= | CA1272522143 | TMEM127 | c.459C= (p.Leu153=) c.207C= (p.Leu69=) c.-460C= (n.-460C=) | |
2 | g.96254066G>T | CA427808133 | TMEM127 | c.459C>A (p.Leu153=) c.207C>A (p.Leu69=) c.-460C>A (n.-460C>A) | |
2 | g.96254067A>C | CA347652943 | TMEM127 | c.458T>G (p.Leu153Arg) c.206T>G (p.Leu69Arg) c.-461T>G (n.-461T>G) | |
2 | g.96254067A>G | CA347652945 | TMEM127 | c.458T>C (p.Leu153Pro) c.206T>C (p.Leu69Pro) c.-461T>C (n.-461T>C) | |
2 | g.96254067A>T | CA347652946 | TMEM127 | c.458T>A (p.Leu153His) c.206T>A (p.Leu69His) c.-461T>A (n.-461T>A) | |
2 | g.96254068G>A | CA347652950 | TMEM127 | c.457C>T (p.Leu153Phe) c.205C>T (p.Leu69Phe) c.-462C>T (n.-462C>T) | |
2 | g.96254068G>C | CA347652952 | TMEM127 | c.457C>G (p.Leu153Val) c.205C>G (p.Leu69Val) c.-462C>G (n.-462C>G) | |
2 | g.96254068G>T | CA347652955 | TMEM127 | c.457C>A (p.Leu153Ile) c.205C>A (p.Leu69Ile) c.-462C>A (n.-462C>A) | |
2 | g.96254069T>A | CA347652960 | TMEM127 | c.456A>T (p.Glu152Asp) c.204A>T (p.Glu68Asp) c.-463A>T (n.-463A>T) | |
2 | g.96254069T>C | CA427808145 | TMEM127 | c.456A>G (p.Glu152=) c.204A>G (p.Glu68=) c.-463A>G (n.-463A>G) | ClinVar dbSNP gnomAD v4 |
2 | g.96254069T>G | CA347652958 | TMEM127 | c.456A>C (p.Glu152Asp) c.204A>C (p.Glu68Asp) c.-463A>C (n.-463A>C) | |
2 | g.96254069T= | CA1272522144 | TMEM127 | c.456A= (p.Glu152=) c.204A= (p.Glu68=) c.-463A= (n.-463A=) | |
2 | g.96254070T>A | CA347652963 | TMEM127 | c.455A>T (p.Glu152Val) c.203A>T (p.Glu68Val) c.-464A>T (n.-464A>T) | |
2 | g.96254070T>C | CA347652965 | TMEM127 | c.455A>G (p.Glu152Gly) c.203A>G (p.Glu68Gly) c.-464A>G (n.-464A>G) | |
2 | g.96254070T>G | CA347652967 | TMEM127 | c.455A>C (p.Glu152Ala) c.203A>C (p.Glu68Ala) c.-464A>C (n.-464A>C) | |
2 | g.96254071C>A | CA347652970 | TMEM127 | c.454G>T (p.Glu152Ter) c.202G>T (p.Glu68Ter) c.-465G>T (n.-465G>T) | |
2 | g.96254071C= | CA1272522145 | TMEM127 | c.454G= (p.Glu152=) c.202G= (p.Glu68=) c.-465G= (n.-465G=) | |
2 | g.96254071C>G | CA347652971 | TMEM127 | c.454G>C (p.Glu152Gln) c.202G>C (p.Glu68Gln) c.-465G>C (n.-465G>C) | dbSNP |
2 | g.96254071C>T | CA347652974 | TMEM127 | c.454G>A (p.Glu152Lys) c.202G>A (p.Glu68Lys) c.-465G>A (n.-465G>A) | |
2 | g.96254072A>C | CA427808153 | TMEM127 | c.453T>G (p.Ser151=) c.201T>G (p.Ser67=) c.-466T>G (n.-466T>G) | |
2 | g.96254072A>G | CA427808155 | TMEM127 | c.453T>C (p.Ser151=) c.201T>C (p.Ser67=) c.-466T>C (n.-466T>C) | ClinVar |
2 | g.96254072A>T | CA427808156 | TMEM127 | c.453T>A (p.Ser151=) c.201T>A (p.Ser67=) c.-466T>A (n.-466T>A) | |
2 | g.96254073G>A | CA347652981 | TMEM127 | c.452C>T (p.Ser151Phe) c.200C>T (p.Ser67Phe) c.-467C>T (n.-467C>T) | dbSNP gnomAD v4 |
2 | g.96254073G>C | CA347652976 | TMEM127 | c.452C>G (p.Ser151Cys) c.200C>G (p.Ser67Cys) c.-467C>G (n.-467C>G) | dbSNP gnomAD v4 COSMIC |
2 | g.96254073G= | CA1272522146 | TMEM127 | c.452C= (p.Ser151=) c.200C= (p.Ser67=) c.-467C= (n.-467C=) | |
2 | g.96254073G>T | CA347652978 | TMEM127 | c.452C>A (p.Ser151Tyr) c.200C>A (p.Ser67Tyr) c.-467C>A (n.-467C>A) | |
2 | g.96254074A= | CA1272522147 | TMEM127 | c.451T= (p.Ser151=) c.199T= (p.Ser67=) c.-468T= (n.-468T=) | |
2 | g.96254074A>C | CA347652983 | TMEM127 | c.451T>G (p.Ser151Ala) c.199T>G (p.Ser67Ala) c.-468T>G (n.-468T>G) | ClinVar dbSNP gnomAD v4 |
2 | g.96254074A>G | CA52412161 | TMEM127 | c.451T>C (p.Ser151Pro) c.199T>C (p.Ser67Pro) c.-468T>C (n.-468T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.96254074A>T | CA347652987 | TMEM127 | c.451T>A (p.Ser151Thr) c.199T>A (p.Ser67Thr) c.-468T>A (n.-468T>A) | |
2 | g.96254075A>C | CA427808159 | TMEM127 | c.450T>G (p.Ala150=) c.198T>G (p.Ala66=) c.-469T>G (n.-469T>G) | ClinVar dbSNP |
2 | g.96254075A>G | CA427808160 | TMEM127 | c.450T>C (p.Ala150=) c.198T>C (p.Ala66=) c.-469T>C (n.-469T>C) | |
2 | g.96254075A>T | CA427808161 | TMEM127 | c.450T>A (p.Ala150=) c.198T>A (p.Ala66=) c.-469T>A (n.-469T>A) | |
2 | g.96254076G>A | CA347652990 | TMEM127 | c.449C>T (p.Ala150Val) c.197C>T (p.Ala66Val) c.-470C>T (n.-470C>T) | ClinVar gnomAD v4 |
2 | g.96254076G>C | CA347652993 | TMEM127 | c.449C>G (p.Ala150Gly) c.197C>G (p.Ala66Gly) c.-470C>G (n.-470C>G) | |
2 | g.96254076G>T | CA347652995 | TMEM127 | c.449C>A (p.Ala150Asp) c.197C>A (p.Ala66Asp) c.-470C>A (n.-470C>A) | ClinVar |
2 | g.96254077C>A | CA347652998 | TMEM127 | c.448G>T (p.Ala150Ser) c.196G>T (p.Ala66Ser) c.-471G>T (n.-471G>T) | |
2 | g.96254077C= | CA1272522148 | TMEM127 | c.448G= (p.Ala150=) c.196G= (p.Ala66=) c.-471G= (n.-471G=) | |
2 | g.96254077C>G | CA347653000 | TMEM127 | c.448G>C (p.Ala150Pro) c.196G>C (p.Ala66Pro) c.-471G>C (n.-471G>C) | ClinVar dbSNP gnomAD v4 |
2 | g.96254077C>T | CA347653001 | TMEM127 | c.448G>A (p.Ala150Thr) c.196G>A (p.Ala66Thr) c.-471G>A (n.-471G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.96254078C>A | CA347653003 | TMEM127 | c.447G>T (p.Trp149Cys) c.195G>T (p.Trp65Cys) c.-472G>T (n.-472G>T) | |
2 | g.96254078C= | CA1272522149 | TMEM127 | c.447G= (p.Trp149=) c.195G= (p.Trp65=) c.-472G= (n.-472G=) | |
2 | g.96254078C>G | CA347653006 | TMEM127 | c.447G>C (p.Trp149Cys) c.195G>C (p.Trp65Cys) c.-472G>C (n.-472G>C) | |
2 | g.96254078C>T | CA269760 | TMEM127 | c.447G>A (p.Trp149Ter) c.195G>A (p.Trp65Ter) c.-472G>A (n.-472G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.96254079C>A | CA347653017 | TMEM127 | c.446G>T (p.Trp149Leu) c.194G>T (p.Trp65Leu) c.-473G>T (n.-473G>T) | COSMIC |
2 | g.96254079C>G | CA347653021 | TMEM127 | c.446G>C (p.Trp149Ser) c.194G>C (p.Trp65Ser) c.-473G>C (n.-473G>C) | ClinVar |
2 | g.96254079C>T | CA347653019 | TMEM127 | c.446G>A (p.Trp149Ter) c.194G>A (p.Trp65Ter) c.-473G>A (n.-473G>A) | |
2 | g.96254080A>C | CA347653025 | TMEM127 | c.445T>G (p.Trp149Gly) c.193T>G (p.Trp65Gly) c.-474T>G (n.-474T>G) | |
2 | g.96254080A>G | CA347653028 | TMEM127 | c.445T>C (p.Trp149Arg) c.193T>C (p.Trp65Arg) c.-474T>C (n.-474T>C) | COSMIC |
2 | g.96254080A>T | CA347653033 | TMEM127 | c.445T>A (p.Trp149Arg) c.193T>A (p.Trp65Arg) c.-474T>A (n.-474T>A) | |
2 | g.96254081dup | CA2602344478 | TMEM127 | c.445dup (p.Trp149LeufsTer4) c.193dup (p.Trp65LeufsTer4) c.-474dup (n.-474dup) | gnomAD v3 gnomAD v4 |
2 | g.96254082_96254084del | CA2586964989 | TMEM127 | c.443_445del (p.Tyr148del) c.191_193del (p.Tyr64del) c.-476_-474del (n.-476_-474del) | |
2 | g.96254081A= | CA1272522150 | TMEM127 | c.444T= (p.Tyr148=) c.192T= (p.Tyr64=) c.-475T= (n.-475T=) | |
2 | g.96254081A>C | CA347653035 | TMEM127 | c.444T>G (p.Tyr148Ter) c.192T>G (p.Tyr64Ter) c.-475T>G (n.-475T>G) | |
2 | g.96254081A>G | CA1777301 | TMEM127 | c.444T>C (p.Tyr148=) c.192T>C (p.Tyr64=) c.-475T>C (n.-475T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.96254081A>T | CA347653043 | TMEM127 | c.444T>A (p.Tyr148Ter) c.192T>A (p.Tyr64Ter) c.-475T>A (n.-475T>A) | gnomAD v4 |
2 | g.96254082T>A | CA347653048 | TMEM127 | c.443A>T (p.Tyr148Phe) c.191A>T (p.Tyr64Phe) c.-476A>T (n.-476A>T) | ClinVar dbSNP gnomAD v4 |
2 | g.96254082T>C | CA347653050 | TMEM127 | c.443A>G (p.Tyr148Cys) c.191A>G (p.Tyr64Cys) c.-476A>G (n.-476A>G) | |
2 | g.96254082T>G | CA347653051 | TMEM127 | c.443A>C (p.Tyr148Ser) c.191A>C (p.Tyr64Ser) c.-476A>C (n.-476A>C) | |
2 | g.96254082T= | CA1272522151 | TMEM127 | c.443A= (p.Tyr148=) c.191A= (p.Tyr64=) c.-476A= (n.-476A=) | |
2 | g.96254083A>C | CA347653054 | TMEM127 | c.442T>G (p.Tyr148Asp) c.190T>G (p.Tyr64Asp) c.-477T>G (n.-477T>G) | |
2 | g.96254083A>G | CA347653056 | TMEM127 | c.442T>C (p.Tyr148His) c.190T>C (p.Tyr64His) c.-477T>C (n.-477T>C) | |
2 | g.96254083A>T | CA347653057 | TMEM127 | c.442T>A (p.Tyr148Asn) c.190T>A (p.Tyr64Asn) c.-477T>A (n.-477T>A) | |
2 | g.96254085_96254087del | CA2586964990 | TMEM127 | c.440_442del (p.Ser147del) c.188_190del (p.Ser63del) c.-479_-477del (n.-479_-477del) | ClinVar |
2 | g.96254086_96254090del | CA2697550983 | TMEM127 | c.438_442del (p.Phe146LeufsTer5) c.186_190del (p.Phe62LeufsTer5) c.-481_-477del (n.-481_-477del) | ClinVar |
2 | g.96254084A>C | CA427807377 | TMEM127 | c.441T>G (p.Ser147=) c.189T>G (p.Ser63=) c.-478T>G (n.-478T>G) | |
2 | g.96254084A>G | CA427807376 | TMEM127 | c.441T>C (p.Ser147=) c.189T>C (p.Ser63=) c.-478T>C (n.-478T>C) | |
2 | g.96254084A>T | CA427807375 | TMEM127 | c.441T>A (p.Ser147=) c.189T>A (p.Ser63=) c.-478T>A (n.-478T>A) | |
2 | g.96254085G>A | CA347653065 | TMEM127 | c.440C>T (p.Ser147Phe) c.188C>T (p.Ser63Phe) c.-479C>T (n.-479C>T) | |
2 | g.96254085G>C | CA347653061 | TMEM127 | c.440C>G (p.Ser147Cys) c.188C>G (p.Ser63Cys) c.-479C>G (n.-479C>G) | |
2 | g.96254085G>T | CA347653062 | TMEM127 | c.440C>A (p.Ser147Tyr) c.188C>A (p.Ser63Tyr) c.-479C>A (n.-479C>A) | |
2 | g.96254086A>C | CA347653068 | TMEM127 | c.439T>G (p.Ser147Ala) c.187T>G (p.Ser63Ala) c.-480T>G (n.-480T>G) | |
2 | g.96254086A>G | CA347653070 | TMEM127 | c.439T>C (p.Ser147Pro) c.187T>C (p.Ser63Pro) c.-480T>C (n.-480T>C) | |
2 | g.96254086A>T | CA347653073 | TMEM127 | c.439T>A (p.Ser147Thr) c.187T>A (p.Ser63Thr) c.-480T>A (n.-480T>A) | |
2 | g.96254087A= | CA1272522152 | TMEM127 | c.438T= (p.Phe146=) c.186T= (p.Phe62=) c.-481T= (n.-481T=) | |
2 | g.96254087A>C | CA347653078 | TMEM127 | c.438T>G (p.Phe146Leu) c.186T>G (p.Phe62Leu) c.-481T>G (n.-481T>G) | |
2 | g.96254087A>G | CA1777302 | TMEM127 | c.438T>C (p.Phe146=) c.186T>C (p.Phe62=) c.-481T>C (n.-481T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254087A>T | CA347653080 | TMEM127 | c.438T>A (p.Phe146Leu) c.186T>A (p.Phe62Leu) c.-481T>A (n.-481T>A) | |
2 | g.96254088A>C | CA347653081 | TMEM127 | c.437T>G (p.Phe146Cys) c.185T>G (p.Phe62Cys) c.-482T>G (n.-482T>G) | |
2 | g.96254088A>G | CA347653082 | TMEM127 | c.437T>C (p.Phe146Ser) c.185T>C (p.Phe62Ser) c.-482T>C (n.-482T>C) | gnomAD v4 |
2 | g.96254088A>T | CA347653083 | TMEM127 | c.437T>A (p.Phe146Tyr) c.185T>A (p.Phe62Tyr) c.-482T>A (n.-482T>A) | |
2 | g.96254089A>C | CA347653084 | TMEM127 | c.436T>G (p.Phe146Val) c.184T>G (p.Phe62Val) c.-483T>G (n.-483T>G) | |
2 | g.96254089A>G | CA347653085 | TMEM127 | c.436T>C (p.Phe146Leu) c.184T>C (p.Phe62Leu) c.-483T>C (n.-483T>C) | |
2 | g.96254089A>T | CA347653088 | TMEM127 | c.436T>A (p.Phe146Ile) c.184T>A (p.Phe62Ile) c.-483T>A (n.-483T>A) | |
2 | g.96254090G>A | CA427807384 | TMEM127 | c.435C>T (p.Gly145=) c.183C>T (p.Gly61=) c.-484C>T (n.-484C>T) | |
2 | g.96254090G>C | CA1777303 | TMEM127 | c.435C>G (p.Gly145=) c.183C>G (p.Gly61=) c.-484C>G (n.-484C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.96254090G= | CA1272522153 | TMEM127 | c.435C= (p.Gly145=) c.183C= (p.Gly61=) c.-484C= (n.-484C=) | |
2 | g.96254090G>T | CA427807385 | TMEM127 | c.435C>A (p.Gly145=) c.183C>A (p.Gly61=) c.-484C>A (n.-484C>A) | |
2 | g.96254091C>A | CA347653095 | TMEM127 | c.434G>T (p.Gly145Val) c.182G>T (p.Gly61Val) c.-485G>T (n.-485G>T) | dbSNP |
2 | g.96254091C>G | CA347653092 | TMEM127 | c.434G>C (p.Gly145Ala) c.182G>C (p.Gly61Ala) c.-485G>C (n.-485G>C) | ClinVar |
2 | g.96254091C>T | CA347653097 | TMEM127 | c.434G>A (p.Gly145Asp) c.182G>A (p.Gly61Asp) c.-485G>A (n.-485G>A) | dbSNP |
2 | g.96254092dup | CA2842763322 | TMEM127 | c.434dup (p.Phe146LeufsTer7) c.182dup (p.Phe62LeufsTer7) c.-485dup (n.-485dup) | |
2 | g.96254092C>A | CA347653100 | TMEM127 | c.433G>T (p.Gly145Cys) c.181G>T (p.Gly61Cys) c.-486G>T (n.-486G>T) | dbSNP |
2 | g.96254092C>G | CA347653101 | TMEM127 | c.433G>C (p.Gly145Arg) c.181G>C (p.Gly61Arg) c.-486G>C (n.-486G>C) | |
2 | g.96254092C>T | CA347653103 | TMEM127 | c.433G>A (p.Gly145Ser) c.181G>A (p.Gly61Ser) c.-486G>A (n.-486G>A) | ClinVar gnomAD v4 |
2 | g.96254093A>C | CA347653106 | TMEM127 | c.432T>G (p.Ile144Met) c.180T>G (p.Ile60Met) c.-487T>G (n.-487T>G) | |
2 | g.96254093A>G | CA427807389 | TMEM127 | c.432T>C (p.Ile144=) c.180T>C (p.Ile60=) c.-487T>C (n.-487T>C) | ClinVar |
2 | g.96254093A>T | CA427807390 | TMEM127 | c.432T>A (p.Ile144=) c.180T>A (p.Ile60=) c.-487T>A (n.-487T>A) | gnomAD v4 |
2 | g.96254094A= | CA1272522154 | TMEM127 | c.431T= (p.Ile144=) c.179T= (p.Ile60=) c.-488T= (n.-488T=) | |
2 | g.96254094A>C | CA347653108 | TMEM127 | c.431T>G (p.Ile144Ser) c.179T>G (p.Ile60Ser) c.-488T>G (n.-488T>G) | |
2 | g.96254094A>G | CA52412216 | TMEM127 | c.431T>C (p.Ile144Thr) c.179T>C (p.Ile60Thr) c.-488T>C (n.-488T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.96254094A>T | CA347653112 | TMEM127 | c.431T>A (p.Ile144Asn) c.179T>A (p.Ile60Asn) c.-488T>A (n.-488T>A) | |
2 | g.96254095T>A | CA52412220 | TMEM127 | c.430A>T (p.Ile144Phe) c.178A>T (p.Ile60Phe) c.-489A>T (n.-489A>T) | ClinVar dbSNP gnomAD v4 |
2 | g.96254095T>C | CA347653116 | TMEM127 | c.430A>G (p.Ile144Val) c.178A>G (p.Ile60Val) c.-489A>G (n.-489A>G) | |
2 | g.96254095T>G | CA347653118 | TMEM127 | c.430A>C (p.Ile144Leu) c.178A>C (p.Ile60Leu) c.-489A>C (n.-489A>C) | |
2 | g.96254095T= | CA1272522155 | TMEM127 | c.430A= (p.Ile144=) c.178A= (p.Ile60=) c.-489A= (n.-489A=) | |
2 | g.96254096G>A | CA427807392 | TMEM127 | c.429C>T (p.Val143=) c.177C>T (p.Val59=) c.-490C>T (n.-490C>T) | |
2 | g.96254096G>C | CA427807393 | TMEM127 | c.429C>G (p.Val143=) c.177C>G (p.Val59=) c.-490C>G (n.-490C>G) | |
2 | g.96254096G>T | CA427807394 | TMEM127 | c.429C>A (p.Val143=) c.177C>A (p.Val59=) c.-490C>A (n.-490C>A) | |
2 | g.96254097A>C | CA347653120 | TMEM127 | c.428T>G (p.Val143Gly) c.176T>G (p.Val59Gly) c.-491T>G (n.-491T>G) | |
2 | g.96254097A>G | CA347653124 | TMEM127 | c.428T>C (p.Val143Ala) c.176T>C (p.Val59Ala) c.-491T>C (n.-491T>C) | |
2 | g.96254097A>T | CA347653127 | TMEM127 | c.428T>A (p.Val143Asp) c.176T>A (p.Val59Asp) c.-491T>A (n.-491T>A) | |
2 | g.96254098C>A | CA347653130 | TMEM127 | c.427G>T (p.Val143Phe) c.175G>T (p.Val59Phe) c.-492G>T (n.-492G>T) | |
2 | g.96254098C= | CA1272522156 | TMEM127 | c.427G= (p.Val143=) c.175G= (p.Val59=) c.-492G= (n.-492G=) | |
2 | g.96254098C>G | CA347653134 | TMEM127 | c.427G>C (p.Val143Leu) c.175G>C (p.Val59Leu) c.-492G>C (n.-492G>C) | |
2 | g.96254098C>T | CA1777304 | TMEM127 | c.427G>A (p.Val143Ile) c.175G>A (p.Val59Ile) c.-492G>A (n.-492G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254099G>A | CA52412228 | TMEM127 | c.426C>T (p.Thr142=) c.174C>T (p.Thr58=) c.-493C>T (n.-493C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254099G>C | CA427807398 | TMEM127 | c.426C>G (p.Thr142=) c.174C>G (p.Thr58=) c.-493C>G (n.-493C>G) | |
2 | g.96254099G= | CA1272522157 | TMEM127 | c.426C= (p.Thr142=) c.174C= (p.Thr58=) c.-493C= (n.-493C=) | |
2 | g.96254099G>T | CA427807399 | TMEM127 | c.426C>A (p.Thr142=) c.174C>A (p.Thr58=) c.-493C>A (n.-493C>A) | |
2 | g.96254101_96254103dup | CA2586964992 | TMEM127 | c.424_426dup (p.Thr142_Val143insThr) c.172_174dup (p.Thr58_Val59insThr) c.-495_-493dup (n.-495_-493dup) | |
2 | g.96254101_96254103del | CA2586964991 | TMEM127 | c.424_426del (p.Thr142del) c.172_174del (p.Thr58del) c.-495_-493del (n.-495_-493del) | |
2 | g.96254100G>A | CA347653135 | TMEM127 | c.425C>T (p.Thr142Ile) c.173C>T (p.Thr58Ile) c.-494C>T (n.-494C>T) | dbSNP gnomAD v4 |
2 | g.96254100G>C | CA347653136 | TMEM127 | c.425C>G (p.Thr142Ser) c.173C>G (p.Thr58Ser) c.-494C>G (n.-494C>G) | |
2 | g.96254100G>T | CA347653137 | TMEM127 | c.425C>A (p.Thr142Asn) c.173C>A (p.Thr58Asn) c.-494C>A (n.-494C>A) | ClinVar gnomAD v4 |
2 | g.96254101T>A | CA347653138 | TMEM127 | c.424A>T (p.Thr142Ser) c.172A>T (p.Thr58Ser) c.-495A>T (n.-495A>T) | |
2 | g.96254101T>C | CA347653140 | TMEM127 | c.424A>G (p.Thr142Ala) c.172A>G (p.Thr58Ala) c.-495A>G (n.-495A>G) | ClinVar |
2 | g.96254101T>G | CA52412232 | TMEM127 | c.424A>C (p.Thr142Pro) c.172A>C (p.Thr58Pro) c.-495A>C (n.-495A>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.96254101T= | CA1272522158 | TMEM127 | c.424A= (p.Thr142=) c.172A= (p.Thr58=) c.-495A= (n.-495A=) | |
2 | g.96254102G>A | CA427807402 | TMEM127 | c.423C>T (p.Ala141=) c.171C>T (p.Ala57=) c.-496C>T (n.-496C>T) | |
2 | g.96254102G>C | CA427807404 | TMEM127 | c.423C>G (p.Ala141=) c.171C>G (p.Ala57=) c.-496C>G (n.-496C>G) | |
2 | g.96254102G>T | CA427807405 | TMEM127 | c.423C>A (p.Ala141=) c.171C>A (p.Ala57=) c.-496C>A (n.-496C>A) | |
2 | g.96254103G>A | CA347653144 | TMEM127 | c.422C>T (p.Ala141Val) c.170C>T (p.Ala57Val) c.-497C>T (n.-497C>T) | dbSNP |
2 | g.96254103G>C | CA347653147 | TMEM127 | c.422C>G (p.Ala141Gly) c.170C>G (p.Ala57Gly) c.-497C>G (n.-497C>G) | |
2 | g.96254103G>T | CA347653149 | TMEM127 | c.422C>A (p.Ala141Asp) c.170C>A (p.Ala57Asp) c.-497C>A (n.-497C>A) | |
2 | g.96254104C>A | CA347653154 | TMEM127 | c.421G>T (p.Ala141Ser) c.169G>T (p.Ala57Ser) c.-498G>T (n.-498G>T) | dbSNP |
2 | g.96254104C>G | CA347653157 | TMEM127 | c.421G>C (p.Ala141Pro) c.169G>C (p.Ala57Pro) c.-498G>C (n.-498G>C) | dbSNP |
2 | g.96254104C>T | CA347653152 | TMEM127 | c.421G>A (p.Ala141Thr) c.169G>A (p.Ala57Thr) c.-498G>A (n.-498G>A) | dbSNP |
2 | g.96254105A>C | CA347653159 | TMEM127 | c.420T>G (p.Cys140Trp) c.168T>G (p.Cys56Trp) c.-499T>G (n.-499T>G) | |
2 | g.96254105A>G | CA427807407 | TMEM127 | c.420T>C (p.Cys140=) c.168T>C (p.Cys56=) c.-499T>C (n.-499T>C) | |
2 | g.96254105A>T | CA347653161 | TMEM127 | c.420T>A (p.Cys140Ter) c.168T>A (p.Cys56Ter) c.-499T>A (n.-499T>A) | |
2 | g.96254106C>A | CA347653164 | TMEM127 | c.419G>T (p.Cys140Phe) c.167G>T (p.Cys56Phe) c.-500G>T (n.-500G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.96254106C= | CA1272522159 | TMEM127 | c.419G= (p.Cys140=) c.167G= (p.Cys56=) c.-500G= (n.-500G=) | |
2 | g.96254106C>G | CA347653167 | TMEM127 | c.419G>C (p.Cys140Ser) c.167G>C (p.Cys56Ser) c.-500G>C (n.-500G>C) | |
2 | g.96254106C>T | CA269757 | TMEM127 | c.419G>A (p.Cys140Tyr) c.167G>A (p.Cys56Tyr) c.-500G>A (n.-500G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.96254107A= | CA1272522160 | TMEM127 | c.418T= (p.Cys140=) c.166T= (p.Cys56=) c.-501T= (n.-501T=) | |
2 | g.96254107A>C | CA347653171 | TMEM127 | c.418T>G (p.Cys140Gly) c.166T>G (p.Cys56Gly) c.-501T>G (n.-501T>G) | dbSNP |
2 | g.96254107A>G | CA269754 | TMEM127 | c.418T>C (p.Cys140Arg) c.166T>C (p.Cys56Arg) c.-501T>C (n.-501T>C) | ClinVar dbSNP |
2 | g.96254107A>T | CA347653174 | TMEM127 | c.418T>A (p.Cys140Ser) c.166T>A (p.Cys56Ser) c.-501T>A (n.-501T>A) | ClinVar |
2 | g.96254108C>A | CA347653175 | TMEM127 | c.417G>T (p.Gln139His) c.165G>T (p.Gln55His) c.-502G>T (n.-502G>T) | |
2 | g.96254108C>G | CA347653176 | TMEM127 | c.417G>C (p.Gln139His) c.165G>C (p.Gln55His) c.-502G>C (n.-502G>C) | |
2 | g.96254108C>T | CA427807412 | TMEM127 | c.417G>A (p.Gln139=) c.165G>A (p.Gln55=) c.-502G>A (n.-502G>A) | |
2 | g.96254109T>A | CA347653177 | TMEM127 | c.416A>T (p.Gln139Leu) c.164A>T (p.Gln55Leu) c.-503A>T (n.-503A>T) | |
2 | g.96254109T>C | CA347653178 | TMEM127 | c.416A>G (p.Gln139Arg) c.164A>G (p.Gln55Arg) c.-503A>G (n.-503A>G) | ClinVar gnomAD v4 COSMIC |
2 | g.96254109T>G | CA347653179 | TMEM127 | c.416A>C (p.Gln139Pro) c.164A>C (p.Gln55Pro) c.-503A>C (n.-503A>C) | |
2 | g.96254110G>A | CA347653184 | TMEM127 | c.415C>T (p.Gln139Ter) c.163C>T (p.Gln55Ter) c.-504C>T (n.-504C>T) | ClinVar gnomAD v4 |
2 | g.96254110G>C | CA347653182 | TMEM127 | c.415C>G (p.Gln139Glu) c.163C>G (p.Gln55Glu) c.-504C>G (n.-504C>G) | |
2 | g.96254110G>T | CA347653181 | TMEM127 | c.415C>A (p.Gln139Lys) c.163C>A (p.Gln55Lys) c.-504C>A (n.-504C>A) | |
2 | g.96254110_96254113del | CA2660177461 | TMEM127 | c.412_415del (p.Leu138SerfsTer?) c.160_163del (p.Leu54SerfsTer?) c.-507_-504del (n.-507_-504del) | gnomAD v4 |
2 | g.96254111C>A | CA427807417 | TMEM127 | c.414G>T (p.Leu138=) c.162G>T (p.Leu54=) c.-505G>T (n.-505G>T) | ClinVar dbSNP |
2 | g.96254111C>G | CA427807416 | TMEM127 | c.414G>C (p.Leu138=) c.162G>C (p.Leu54=) c.-505G>C (n.-505G>C) | |
2 | g.96254111C>T | CA427807418 | TMEM127 | c.414G>A (p.Leu138=) c.162G>A (p.Leu54=) c.-505G>A (n.-505G>A) | ClinVar |
2 | g.96254112A= | CA1272522161 | TMEM127 | c.413T= (p.Leu138=) c.161T= (p.Leu54=) c.-506T= (n.-506T=) | |
2 | g.96254112A>C | CA1777305 | TMEM127 | c.413T>G (p.Leu138Arg) c.161T>G (p.Leu54Arg) c.-506T>G (n.-506T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.96254112A>G | CA16611125 | TMEM127 | c.413T>C (p.Leu138Pro) c.161T>C (p.Leu54Pro) c.-506T>C (n.-506T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254112A>T | CA347653187 | TMEM127 | c.413T>A (p.Leu138Gln) c.161T>A (p.Leu54Gln) c.-506T>A (n.-506T>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.96254113G>A | CA427807419 | TMEM127 | c.412C>T (p.Leu138=) c.160C>T (p.Leu54=) c.-507C>T (n.-507C>T) | dbSNP |
2 | g.96254113G>C | CA347653189 | TMEM127 | c.412C>G (p.Leu138Val) c.160C>G (p.Leu54Val) c.-507C>G (n.-507C>G) | ClinVar dbSNP |
2 | g.96254113G= | CA1272522162 | TMEM127 | c.412C= (p.Leu138=) c.160C= (p.Leu54=) c.-507C= (n.-507C=) | |
2 | g.96254113G>T | CA347653191 | TMEM127 | c.412C>A (p.Leu138Met) c.160C>A (p.Leu54Met) c.-507C>A (n.-507C>A) | |
2 | g.96254114A= | CA1272522163 | TMEM127 | c.411T= (p.Val137=) c.159T= (p.Val53=) c.-508T= (n.-508T=) | |
2 | g.96254114A>C | CA427807421 | TMEM127 | c.411T>G (p.Val137=) c.159T>G (p.Val53=) c.-508T>G (n.-508T>G) | |
2 | g.96254114A>G | CA427807423 | TMEM127 | c.411T>C (p.Val137=) c.159T>C (p.Val53=) c.-508T>C (n.-508T>C) | dbSNP |
2 | g.96254114A>T | CA1777306 | TMEM127 | c.411T>A (p.Val137=) c.159T>A (p.Val53=) c.-508T>A (n.-508T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254115A>C | CA347653192 | TMEM127 | c.410T>G (p.Val137Gly) c.158T>G (p.Val53Gly) c.-509T>G (n.-509T>G) | |
2 | g.96254115A>G | CA347653193 | TMEM127 | c.410T>C (p.Val137Ala) c.158T>C (p.Val53Ala) c.-509T>C (n.-509T>C) | |
2 | g.96254115A>T | CA347653194 | TMEM127 | c.410T>A (p.Val137Asp) c.158T>A (p.Val53Asp) c.-509T>A (n.-509T>A) | |
2 | g.96254116C>A | CA347653198 | TMEM127 | c.410-1G>T (n.410-1G>T) c.158-1G>T (n.158-1G>T) c.-509-1G>T (n.-509-1G>T) | dbSNP |
2 | g.96254116C>G | CA347653200 | TMEM127 | c.410-1G>C (n.410-1G>C) c.158-1G>C (n.158-1G>C) c.-509-1G>C (n.-509-1G>C) | ClinVar |
2 | g.96254116C>T | CA347653202 | TMEM127 | c.410-1G>A (n.410-1G>A) c.158-1G>A (n.158-1G>A) c.-509-1G>A (n.-509-1G>A) | |
2 | g.96254117T>A | CA347653205 | TMEM127 | c.410-2A>T (n.410-2A>T) c.158-2A>T (n.158-2A>T) c.-509-2A>T (n.-509-2A>T) | |
2 | g.96254117T>C | CA347653204 | TMEM127 | c.410-2A>G (n.410-2A>G) c.158-2A>G (n.158-2A>G) c.-509-2A>G (n.-509-2A>G) | ClinVar dbSNP |
2 | g.96254117T>G | CA113854 | TMEM127 | c.410-2A>C (n.410-2A>C) c.158-2A>C (n.158-2A>C) c.-509-2A>C (n.-509-2A>C) | ClinVar dbSNP |
2 | g.96254117T= | CA1272522164 | TMEM127 | c.410-2A= (n.410-2A=) c.158-2A= (n.158-2A=) c.-509-2A= (n.-509-2A=) | |
2 | g.96254119G>A | CA534634899 | TMEM127 | c.410-4C>T (n.410-4C>T) c.158-4C>T (n.158-4C>T) c.-509-4C>T (n.-509-4C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254119G>C | CA2739271171 | TMEM127 | c.410-4C>G (n.410-4C>G) c.158-4C>G (n.158-4C>G) c.-509-4C>G (n.-509-4C>G) | ClinVar |
2 | g.96254119G= | CA1272522165 | TMEM127 | c.410-4C= (n.410-4C=) c.158-4C= (n.158-4C=) c.-509-4C= (n.-509-4C=) | |
2 | g.96254120G>A | CA534634900 | TMEM127 | c.410-5C>T (n.410-5C>T) c.158-5C>T (n.158-5C>T) c.-509-5C>T (n.-509-5C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254120G= | CA1272522166 | TMEM127 | c.410-5C= (n.410-5C=) c.158-5C= (n.158-5C=) c.-509-5C= (n.-509-5C=) | |
2 | g.96254121A= | CA1272522167 | TMEM127 | c.410-6T= (n.410-6T=) c.158-6T= (n.158-6T=) c.-509-6T= (n.-509-6T=) | |
2 | g.96254121A>C | CA1777307 | TMEM127 | c.410-6T>G (n.410-6T>G) c.158-6T>G (n.158-6T>G) c.-509-6T>G (n.-509-6T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.96254121A>T | CA2739271172 | TMEM127 | c.410-6T>A (n.410-6T>A) c.158-6T>A (n.158-6T>A) c.-509-6T>A (n.-509-6T>A) | ClinVar |
2 | g.96254122G>A | CA1777308 | TMEM127 | c.410-7C>T (n.410-7C>T) c.158-7C>T (n.158-7C>T) c.-509-7C>T (n.-509-7C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254122G= | CA1272522168 | TMEM127 | c.410-7C= (n.410-7C=) c.158-7C= (n.158-7C=) c.-509-7C= (n.-509-7C=) | |
2 | g.96254122G>T | CA2839310749 | TMEM127 | c.410-7C>A (n.410-7C>A) c.158-7C>A (n.158-7C>A) c.-509-7C>A (n.-509-7C>A) | |
2 | g.96254124C>T | CA2580068319 | TMEM127 | c.410-9G>A (n.410-9G>A) c.158-9G>A (n.158-9G>A) c.-509-9G>A (n.-509-9G>A) | ClinVar gnomAD v4 |
2 | g.96254124_96254125delinsCA | CA1272522169 | TMEM127 | c.410-10_410-9delinsTG (n.410-10_410-9delinsTG) c.158-10_158-9delinsTG (n.158-10_158-9delinsTG) c.-509-10_-509-9delinsTG (n.-509-10_-509-9delinsTG) | |
2 | g.96254125del | CA534634901 | TMEM127 | c.410-10del (n.410-10del) c.158-10del (n.158-10del) c.-509-10del (n.-509-10del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.96254127_96254128del | CA2660177498 | TMEM127 | c.410-11_410-10del (n.410-11_410-10del) c.158-11_158-10del (n.158-11_158-10del) c.-509-11_-509-10del (n.-509-11_-509-10del) | ClinVar gnomAD v4 |
2 | g.96254126G>T | CA2660177501 | TMEM127 | c.410-11C>A (n.410-11C>A) c.158-11C>A (n.158-11C>A) c.-509-11C>A (n.-509-11C>A) | gnomAD v4 |
2 | g.96254127A= | CA1272522170 | TMEM127 | c.410-12T= (n.410-12T=) c.158-12T= (n.158-12T=) c.-509-12T= (n.-509-12T=) | |
2 | g.96254127A>G | CA534634902 | TMEM127 | c.410-12T>C (n.410-12T>C) c.158-12T>C (n.158-12T>C) c.-509-12T>C (n.-509-12T>C) | ClinVar dbSNP gnomAD v2 |
2 | g.96254127_96254128delinsAG | CA1272522171 | TMEM127 | c.410-13_410-12delinsCT (n.410-13_410-12delinsCT) c.158-13_158-12delinsCT (n.158-13_158-12delinsCT) c.-509-13_-509-12delinsCT (n.-509-13_-509-12delinsCT) | |
2 | g.96254128G>A | CA2573135952 | TMEM127 | c.410-13C>T (n.410-13C>T) c.158-13C>T (n.158-13C>T) c.-509-13C>T (n.-509-13C>T) | ClinVar dbSNP |
2 | g.96254129_96254130dup | CA2580068320 | TMEM127 | c.410-14_410-13dup (n.410-14_410-13dup) c.158-14_158-13dup (n.158-14_158-13dup) c.-509-14_-509-13dup (n.-509-14_-509-13dup) | ClinVar gnomAD v4 |
2 | g.96254130del | CA534634903 | TMEM127 | c.410-13del (n.410-13del) c.158-13del (n.158-13del) c.-509-13del (n.-509-13del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.96254129G>A | CA534634904 | TMEM127 | c.410-14C>T (n.410-14C>T) c.158-14C>T (n.158-14C>T) c.-509-14C>T (n.-509-14C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.96254129G= | CA1272522172 | TMEM127 | c.410-14C= (n.410-14C=) c.158-14C= (n.158-14C=) c.-509-14C= (n.-509-14C=) | |
2 | g.96254130G>A | CA534634905 | TMEM127 | c.410-15C>T (n.410-15C>T) c.158-15C>T (n.158-15C>T) c.-509-15C>T (n.-509-15C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.96254130G= | CA1272522173 | TMEM127 | c.410-15C= (n.410-15C=) c.158-15C= (n.158-15C=) c.-509-15C= (n.-509-15C=) | |
2 | g.96254130G>T | CA2660177515 | TMEM127 | c.410-15C>A (n.410-15C>A) c.158-15C>A (n.158-15C>A) c.-509-15C>A (n.-509-15C>A) | gnomAD v4 |
2 | g.96254132C>A | CA2660177520 | TMEM127 | c.410-17G>T (n.410-17G>T) c.158-17G>T (n.158-17G>T) c.-509-17G>T (n.-509-17G>T) | gnomAD v4 |
2 | g.96254132C= | CA1272522174 | TMEM127 | c.410-17G= (n.410-17G=) c.158-17G= (n.158-17G=) c.-509-17G= (n.-509-17G=) | |
2 | g.96254132C>T | CA1777309 | TMEM127 | c.410-17G>A (n.410-17G>A) c.158-17G>A (n.158-17G>A) c.-509-17G>A (n.-509-17G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254132_96254133delinsCA | CA1272522175 | TMEM127 | c.410-18_410-17delinsTG (n.410-18_410-17delinsTG) c.158-18_158-17delinsTG (n.158-18_158-17delinsTG) c.-509-18_-509-17delinsTG (n.-509-18_-509-17delinsTG) | |
2 | g.96254133del | CA895717480 | TMEM127 | c.410-18del (n.410-18del) c.158-18del (n.158-18del) c.-509-18del (n.-509-18del) | ClinVar dbSNP |
2 | g.96254133A= | CA1272522176 | TMEM127 | c.410-18T= (n.410-18T=) c.158-18T= (n.158-18T=) c.-509-18T= (n.-509-18T=) | |
2 | g.96254133A>G | CA895717483 | TMEM127 | c.410-18T>C (n.410-18T>C) c.158-18T>C (n.158-18T>C) c.-509-18T>C (n.-509-18T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.96254134G>A | CA534634906 | TMEM127 | c.410-19C>T (n.410-19C>T) c.158-19C>T (n.158-19C>T) c.-509-19C>T (n.-509-19C>T) | ClinVar dbSNP gnomAD v2 |
2 | g.96254134G= | CA1272522177 | TMEM127 | c.410-19C= (n.410-19C=) c.158-19C= (n.158-19C=) c.-509-19C= (n.-509-19C=) | |
2 | g.96254135C>T | CA2660177528 | TMEM127 | c.410-20G>A (n.410-20G>A) c.158-20G>A (n.158-20G>A) c.-509-20G>A (n.-509-20G>A) | gnomAD v4 |
2 | g.96254137C>T | CA2660177530 | TMEM127 | c.410-22G>A (n.410-22G>A) c.158-22G>A (n.158-22G>A) c.-509-22G>A (n.-509-22G>A) | gnomAD v4 |
2 | g.96254138A= | CA1272522178 | TMEM127 | c.410-23T= (n.410-23T=) c.158-23T= (n.158-23T=) c.-509-23T= (n.-509-23T=) | |
2 | g.96254138A>G | CA534634907 | TMEM127 | c.410-23T>C (n.410-23T>C) c.158-23T>C (n.158-23T>C) c.-509-23T>C (n.-509-23T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.96254138A>T | CA2839310750 | TMEM127 | c.410-23T>A (n.410-23T>A) c.158-23T>A (n.158-23T>A) c.-509-23T>A (n.-509-23T>A) | |
2 | g.96254139G>A | CA1272522180 | TMEM127 | c.410-24C>T (n.410-24C>T) c.158-24C>T (n.158-24C>T) c.-509-24C>T (n.-509-24C>T) | dbSNP gnomAD v4 |
2 | g.96254139G>C | CA895717493 | TMEM127 | c.410-24C>G (n.410-24C>G) c.158-24C>G (n.158-24C>G) c.-509-24C>G (n.-509-24C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.96254139G= | CA1272522179 | TMEM127 | c.410-24C= (n.410-24C=) c.158-24C= (n.158-24C=) c.-509-24C= (n.-509-24C=) | |
2 | g.96254139G>T | CA2660177536 | TMEM127 | c.410-24C>A (n.410-24C>A) c.158-24C>A (n.158-24C>A) c.-509-24C>A (n.-509-24C>A) | gnomAD v4 |
2 | g.96254142G>A | CA1777310 | TMEM127 | c.410-27C>T (n.410-27C>T) c.158-27C>T (n.158-27C>T) c.-509-27C>T (n.-509-27C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.96254142G= | CA1272522181 | TMEM127 | c.410-27C= (n.410-27C=) c.158-27C= (n.158-27C=) c.-509-27C= (n.-509-27C=) | |
2 | g.96254143G>A | CA52412299 | TMEM127 | c.410-28C>T (n.410-28C>T) c.158-28C>T (n.158-28C>T) c.-509-28C>T (n.-509-28C>T) | dbSNP |
2 | g.96254143G= | CA1272522182 | TMEM127 | c.410-28C= (n.410-28C=) c.158-28C= (n.158-28C=) c.-509-28C= (n.-509-28C=) | |
2 | g.96254143G>T | CA2838795567 | TMEM127 | c.410-28C>A (n.410-28C>A) c.158-28C>A (n.158-28C>A) c.-509-28C>A (n.-509-28C>A) | |
2 | g.96254144G>A | CA1272522184 | TMEM127 | c.410-29C>T (n.410-29C>T) c.158-29C>T (n.158-29C>T) c.-509-29C>T (n.-509-29C>T) | dbSNP |
2 | g.96254144G= | CA1272522183 | TMEM127 | c.410-29C= (n.410-29C=) c.158-29C= (n.158-29C=) c.-509-29C= (n.-509-29C=) | |
2 | g.96254145G>C | CA2577034232 | TMEM127 | c.410-30C>G (n.410-30C>G) c.158-30C>G (n.158-30C>G) c.-509-30C>G (n.-509-30C>G) | |
2 | g.96254149del | CA2842763323 | TMEM127 | c.410-33del (n.410-33del) c.158-33del (n.158-33del) c.-509-33del (n.-509-33del) | |
2 | g.96254149_96254153delinsTAGTG | CA1272522185 | TMEM127 | c.410-38_410-34delinsCACTA (n.410-38_410-34delinsCACTA) c.158-38_158-34delinsCACTA (n.158-38_158-34delinsCACTA) c.-509-38_-509-34delinsCACTA (n.-509-38_-509-34delinsCACTA) | |
2 | g.96254150A>G | CA2751311973 | TMEM127 | c.410-35T>C (n.410-35T>C) c.158-35T>C (n.158-35T>C) c.-509-35T>C (n.-509-35T>C) | |
2 | g.96254152_96254155del | CA52412303 | TMEM127 | c.410-38_410-35del (n.410-38_410-35del) c.158-38_158-35del (n.158-38_158-35del) c.-509-38_-509-35del (n.-509-38_-509-35del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254151G>T | CA2660177542 | TMEM127 | c.410-36C>A (n.410-36C>A) c.158-36C>A (n.158-36C>A) c.-509-36C>A (n.-509-36C>A) | gnomAD v4 |
2 | g.96254153G>C | CA2700002985 | TMEM127 | c.410-38C>G (n.410-38C>G) c.158-38C>G (n.158-38C>G) c.-509-38C>G (n.-509-38C>G) | dbSNP |
2 | g.96254155G>A | CA534634908 | TMEM127 | c.410-40C>T (n.410-40C>T) c.158-40C>T (n.158-40C>T) c.-509-40C>T (n.-509-40C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.96254155G>C | CA1777311 | TMEM127 | c.410-40C>G (n.410-40C>G) c.158-40C>G (n.158-40C>G) c.-509-40C>G (n.-509-40C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254155G= | CA1272522186 | TMEM127 | c.410-40C= (n.410-40C=) c.158-40C= (n.158-40C=) c.-509-40C= (n.-509-40C=) | |
2 | g.96254155G>T | CA2660177544 | TMEM127 | c.410-40C>A (n.410-40C>A) c.158-40C>A (n.158-40C>A) c.-509-40C>A (n.-509-40C>A) | gnomAD v4 |
2 | g.96254156C>A | CA2660177547 | TMEM127 | c.410-41G>T (n.410-41G>T) c.158-41G>T (n.158-41G>T) c.-509-41G>T (n.-509-41G>T) | gnomAD v4 |
2 | g.96254156C= | CA1272522187 | TMEM127 | c.410-41G= (n.410-41G=) c.158-41G= (n.158-41G=) c.-509-41G= (n.-509-41G=) | |
2 | g.96254156C>T | CA895717517 | TMEM127 | c.410-41G>A (n.410-41G>A) c.158-41G>A (n.158-41G>A) c.-509-41G>A (n.-509-41G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.96254157A>C | CA2700002987 | TMEM127 | c.410-42T>G (n.410-42T>G) c.158-42T>G (n.158-42T>G) c.-509-42T>G (n.-509-42T>G) | dbSNP |