Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.124404649_124405541del | CA2499220186 | OAT | c.546_649-726del n.347_450-726del n.392_495-726del c.132_235-726del c.225_328-726del c.-55_49-726del | ClinVar dbSNP |
10 | g.124405439C>A | CA471762947 | OAT | c.645G>T (p.Leu215=) n.446G>T n.491G>T c.231G>T (p.Leu77=) c.324G>T (p.Leu108=) c.45G>T (p.Leu15=) | |
10 | g.124405439C>G | CA471762948 | OAT | c.645G>C (p.Leu215=) n.446G>C n.491G>C c.231G>C (p.Leu77=) c.324G>C (p.Leu108=) c.45G>C (p.Leu15=) | |
10 | g.124405439C>T | CA471762949 | OAT | c.645G>A (p.Leu215=) n.446G>A n.491G>A c.231G>A (p.Leu77=) c.324G>A (p.Leu108=) c.45G>A (p.Leu15=) | |
10 | g.124405440A>C | CA378636085 | OAT | c.644T>G (p.Leu215Arg) n.445T>G n.490T>G c.230T>G (p.Leu77Arg) c.323T>G (p.Leu108Arg) c.44T>G (p.Leu15Arg) | |
10 | g.124405440A>G | CA378636087 | OAT | c.644T>C (p.Leu215Pro) n.445T>C n.490T>C c.230T>C (p.Leu77Pro) c.323T>C (p.Leu108Pro) c.44T>C (p.Leu15Pro) | |
10 | g.124405440A>T | CA378636089 | OAT | c.644T>A (p.Leu215Gln) n.445T>A n.490T>A c.230T>A (p.Leu77Gln) c.323T>A (p.Leu108Gln) c.44T>A (p.Leu15Gln) | |
10 | g.124405441G>A | CA215250426 | OAT | c.643C>T (p.Leu215=) n.444C>T n.489C>T c.229C>T (p.Leu77=) c.322C>T (p.Leu108=) c.43C>T (p.Leu15=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124405441G>C | CA378636092 | OAT | c.643C>G (p.Leu215Val) n.444C>G n.489C>G c.229C>G (p.Leu77Val) c.322C>G (p.Leu108Val) c.43C>G (p.Leu15Val) | dbSNP |
10 | g.124405441G= | CA1942339058 | OAT | c.643C= (p.Leu215=) n.444C= n.489C= c.229C= (p.Leu77=) c.322C= (p.Leu108=) c.43C= (p.Leu15=) | |
10 | g.124405441G>T | CA378636093 | OAT | c.643C>A (p.Leu215Met) n.444C>A n.489C>A c.229C>A (p.Leu77Met) c.322C>A (p.Leu108Met) c.43C>A (p.Leu15Met) | |
10 | g.124405442T>A | CA471762951 | OAT | c.642A>T (p.Ala214=) n.443A>T n.488A>T c.228A>T (p.Ala76=) c.321A>T (p.Ala107=) c.42A>T (p.Ala14=) | |
10 | g.124405442T>C | CA471762952 | OAT | c.642A>G (p.Ala214=) n.443A>G n.488A>G c.228A>G (p.Ala76=) c.321A>G (p.Ala107=) c.42A>G (p.Ala14=) | ClinVar |
10 | g.124405442T>G | CA471762950 | OAT | c.642A>C (p.Ala214=) n.443A>C n.488A>C c.228A>C (p.Ala76=) c.321A>C (p.Ala107=) c.42A>C (p.Ala14=) | |
10 | g.124405443G>A | CA378636096 | OAT | c.641C>T (p.Ala214Val) n.442C>T n.487C>T c.227C>T (p.Ala76Val) c.320C>T (p.Ala107Val) c.41C>T (p.Ala14Val) | |
10 | g.124405443G>C | CA378636098 | OAT | c.641C>G (p.Ala214Gly) n.442C>G n.487C>G c.227C>G (p.Ala76Gly) c.320C>G (p.Ala107Gly) c.41C>G (p.Ala14Gly) | |
10 | g.124405443G= | CA1942339059 | OAT | c.641C= (p.Ala214=) n.442C= n.487C= c.227C= (p.Ala76=) c.320C= (p.Ala107=) c.41C= (p.Ala14=) | |
10 | g.124405443G>T | CA378636100 | OAT | c.641C>A (p.Ala214Glu) n.442C>A n.487C>A c.227C>A (p.Ala76Glu) c.320C>A (p.Ala107Glu) c.41C>A (p.Ala14Glu) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.124405444C>A | CA378636102 | OAT | c.640G>T (p.Ala214Ser) n.441G>T n.486G>T c.226G>T (p.Ala76Ser) c.319G>T (p.Ala107Ser) c.40G>T (p.Ala14Ser) | ClinVar dbSNP gnomAD v4 |
10 | g.124405444C= | CA1942339060 | OAT | c.640G= (p.Ala214=) n.441G= n.486G= c.226G= (p.Ala76=) c.319G= (p.Ala107=) c.40G= (p.Ala14=) | |
10 | g.124405444C>G | CA378636103 | OAT | c.640G>C (p.Ala214Pro) n.441G>C n.486G>C c.226G>C (p.Ala76Pro) c.319G>C (p.Ala107Pro) c.40G>C (p.Ala14Pro) | |
10 | g.124405444C>T | CA378636105 | OAT | c.640G>A (p.Ala214Thr) n.441G>A n.486G>A c.226G>A (p.Ala76Thr) c.319G>A (p.Ala107Thr) c.40G>A (p.Ala14Thr) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.124405445G>A | CA5733481 | OAT | c.639C>T (p.Pro213=) n.440C>T n.485C>T c.225C>T (p.Pro75=) c.318C>T (p.Pro106=) c.39C>T (p.Pro13=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.124405445G>C | CA471762953 | OAT | c.639C>G (p.Pro213=) n.440C>G n.485C>G c.225C>G (p.Pro75=) c.318C>G (p.Pro106=) c.39C>G (p.Pro13=) | dbSNP |
10 | g.124405445G= | CA1942339061 | OAT | c.639C= (p.Pro213=) n.440C= n.485C= c.225C= (p.Pro75=) c.318C= (p.Pro106=) c.39C= (p.Pro13=) | |
10 | g.124405445G>T | CA471762954 | OAT | c.639C>A (p.Pro213=) n.440C>A n.485C>A c.225C>A (p.Pro75=) c.318C>A (p.Pro106=) c.39C>A (p.Pro13=) | |
10 | g.124405446G>A | CA5733482 | OAT | c.638C>T (p.Pro213Leu) n.439C>T n.484C>T c.224C>T (p.Pro75Leu) c.317C>T (p.Pro106Leu) c.38C>T (p.Pro13Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.124405446G>C | CA378636118 | OAT | c.638C>G (p.Pro213Arg) n.439C>G n.484C>G c.224C>G (p.Pro75Arg) c.317C>G (p.Pro106Arg) c.38C>G (p.Pro13Arg) | |
10 | g.124405446G= | CA1942339062 | OAT | c.638C= (p.Pro213=) n.439C= n.484C= c.224C= (p.Pro75=) c.317C= (p.Pro106=) c.38C= (p.Pro13=) | |
10 | g.124405446G>T | CA378636120 | OAT | c.638C>A (p.Pro213His) n.439C>A n.484C>A c.224C>A (p.Pro75His) c.317C>A (p.Pro106His) c.38C>A (p.Pro13His) | |
10 | g.124405447G>A | CA378636122 | OAT | c.637C>T (p.Pro213Ser) n.438C>T n.483C>T c.223C>T (p.Pro75Ser) c.316C>T (p.Pro106Ser) c.37C>T (p.Pro13Ser) | |
10 | g.124405447G>C | CA378636123 | OAT | c.637C>G (p.Pro213Ala) n.438C>G n.483C>G c.223C>G (p.Pro75Ala) c.316C>G (p.Pro106Ala) c.37C>G (p.Pro13Ala) | |
10 | g.124405447G>T | CA378636126 | OAT | c.637C>A (p.Pro213Thr) n.438C>A n.483C>A c.223C>A (p.Pro75Thr) c.316C>A (p.Pro106Thr) c.37C>A (p.Pro13Thr) | gnomAD v4 |
10 | g.124405448C>A | CA471762955 | OAT | c.636G>T (p.Leu212=) n.437G>T n.482G>T c.222G>T (p.Leu74=) c.315G>T (p.Leu105=) c.36G>T (p.Leu12=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.124405448C= | CA1942339063 | OAT | c.636G= (p.Leu212=) n.437G= n.482G= c.222G= (p.Leu74=) c.315G= (p.Leu105=) c.36G= (p.Leu12=) | |
10 | g.124405448C>G | CA471762957 | OAT | c.636G>C (p.Leu212=) n.437G>C n.482G>C c.222G>C (p.Leu74=) c.315G>C (p.Leu105=) c.36G>C (p.Leu12=) | |
10 | g.124405448C>T | CA471762956 | OAT | c.636G>A (p.Leu212=) n.437G>A n.482G>A c.222G>A (p.Leu74=) c.315G>A (p.Leu105=) c.36G>A (p.Leu12=) | ClinVar |
10 | g.124405449A>C | CA378636129 | OAT | c.635T>G (p.Leu212Arg) n.436T>G n.481T>G c.221T>G (p.Leu74Arg) c.314T>G (p.Leu105Arg) c.35T>G (p.Leu12Arg) | |
10 | g.124405449A>G | CA378636135 | OAT | c.635T>C (p.Leu212Pro) n.436T>C n.481T>C c.221T>C (p.Leu74Pro) c.314T>C (p.Leu105Pro) c.35T>C (p.Leu12Pro) | |
10 | g.124405449A>T | CA378636131 | OAT | c.635T>A (p.Leu212Gln) n.436T>A n.481T>A c.221T>A (p.Leu74Gln) c.314T>A (p.Leu105Gln) c.35T>A (p.Leu12Gln) | |
10 | g.124405450G>A | CA471762959 | OAT | c.634C>T (p.Leu212=) n.435C>T n.480C>T c.220C>T (p.Leu74=) c.313C>T (p.Leu105=) c.34C>T (p.Leu12=) | ClinVar dbSNP gnomAD v4 COSMIC |
10 | g.124405450G>C | CA378636138 | OAT | c.634C>G (p.Leu212Val) n.435C>G n.480C>G c.220C>G (p.Leu74Val) c.313C>G (p.Leu105Val) c.34C>G (p.Leu12Val) | |
10 | g.124405450G>T | CA378636140 | OAT | c.634C>A (p.Leu212Met) n.435C>A n.480C>A c.220C>A (p.Leu74Met) c.313C>A (p.Leu105Met) c.34C>A (p.Leu12Met) | |
10 | g.124405451A= | CA1942339064 | OAT | c.633T= (p.Asp211=) n.434T= n.479T= c.219T= (p.Asp73=) c.312T= (p.Asp104=) c.33T= (p.Asp11=) | |
10 | g.124405451A>C | CA378636143 | OAT | c.633T>G (p.Asp211Glu) n.434T>G n.479T>G c.219T>G (p.Asp73Glu) c.312T>G (p.Asp104Glu) c.33T>G (p.Asp11Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.124405451A>G | CA215250467 | OAT | c.633T>C (p.Asp211=) n.434T>C n.479T>C c.219T>C (p.Asp73=) c.312T>C (p.Asp104=) c.33T>C (p.Asp11=) | ClinVar dbSNP |
10 | g.124405451A>T | CA378636145 | OAT | c.633T>A (p.Asp211Glu) n.434T>A n.479T>A c.219T>A (p.Asp73Glu) c.312T>A (p.Asp104Glu) c.33T>A (p.Asp11Glu) | |
10 | g.124405452T>A | CA378636146 | OAT | c.632A>T (p.Asp211Val) n.433A>T n.478A>T c.218A>T (p.Asp73Val) c.311A>T (p.Asp104Val) c.32A>T (p.Asp11Val) | |
10 | g.124405452T>C | CA378636147 | OAT | c.632A>G (p.Asp211Gly) n.433A>G n.478A>G c.218A>G (p.Asp73Gly) c.311A>G (p.Asp104Gly) c.32A>G (p.Asp11Gly) | |
10 | g.124405452T>G | CA378636148 | OAT | c.632A>C (p.Asp211Ala) n.433A>C n.478A>C c.218A>C (p.Asp73Ala) c.311A>C (p.Asp104Ala) c.32A>C (p.Asp11Ala) | |
10 | g.124405453C>A | CA378636150 | OAT | c.631G>T (p.Asp211Tyr) n.432G>T n.477G>T c.217G>T (p.Asp73Tyr) c.310G>T (p.Asp104Tyr) c.31G>T (p.Asp11Tyr) | gnomAD v4 |
10 | g.124405453C>G | CA378636151 | OAT | c.631G>C (p.Asp211His) n.432G>C n.477G>C c.217G>C (p.Asp73His) c.310G>C (p.Asp104His) c.31G>C (p.Asp11His) | |
10 | g.124405453C>T | CA378636152 | OAT | c.631G>A (p.Asp211Asn) n.432G>A n.477G>A c.217G>A (p.Asp73Asn) c.310G>A (p.Asp104Asn) c.31G>A (p.Asp11Asn) | |
10 | g.124405453_124405454insT | CA2695201051 | OAT | c.630_631insA (p.Asp211ArgfsTer25) n.431_432insA n.476_477insA c.216_217insA (p.Asp73ArgfsTer25) c.309_310insA (p.Asp104ArgfsTer25) c.30_31insA (p.Asp11ArgfsTer25) | ClinVar |
10 | g.124405454A= | CA1942339065 | OAT | c.630T= (p.Asn210=) n.431T= n.476T= c.216T= (p.Asn72=) c.309T= (p.Asn103=) c.30T= (p.Asn10=) | |
10 | g.124405454A>C | CA5733484 | OAT | c.630T>G (p.Asn210Lys) n.431T>G n.476T>G c.216T>G (p.Asn72Lys) c.309T>G (p.Asn103Lys) c.30T>G (p.Asn10Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.124405454A>G | CA471762960 | OAT | c.630T>C (p.Asn210=) n.431T>C n.476T>C c.216T>C (p.Asn72=) c.309T>C (p.Asn103=) c.30T>C (p.Asn10=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124405454A>T | CA5733483 | OAT | c.630T>A (p.Asn210Lys) n.431T>A n.476T>A c.216T>A (p.Asn72Lys) c.309T>A (p.Asn103Lys) c.30T>A (p.Asn10Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.124405455T>A | CA378636167 | OAT | c.629A>T (p.Asn210Ile) n.430A>T n.475A>T c.215A>T (p.Asn72Ile) c.308A>T (p.Asn103Ile) c.29A>T (p.Asn10Ile) | |
10 | g.124405455T>C | CA378636156 | OAT | c.629A>G (p.Asn210Ser) n.430A>G n.475A>G c.215A>G (p.Asn72Ser) c.308A>G (p.Asn103Ser) c.29A>G (p.Asn10Ser) | |
10 | g.124405455T>G | CA378636165 | OAT | c.629A>C (p.Asn210Thr) n.430A>C n.475A>C c.215A>C (p.Asn72Thr) c.308A>C (p.Asn103Thr) c.29A>C (p.Asn10Thr) | |
10 | g.124405456T>A | CA378636173 | OAT | c.628A>T (p.Asn210Tyr) n.429A>T n.474A>T c.214A>T (p.Asn72Tyr) c.307A>T (p.Asn103Tyr) c.28A>T (p.Asn10Tyr) | |
10 | g.124405456T>C | CA378636178 | OAT | c.628A>G (p.Asn210Asp) n.429A>G n.474A>G c.214A>G (p.Asn72Asp) c.307A>G (p.Asn103Asp) c.28A>G (p.Asn10Asp) | |
10 | g.124405456T>G | CA378636186 | OAT | c.628A>C (p.Asn210His) n.429A>C n.474A>C c.214A>C (p.Asn72His) c.307A>C (p.Asn103His) c.28A>C (p.Asn10His) | gnomAD v4 |
10 | g.124405457A= | CA1942339066 | OAT | c.627T= (p.Tyr209=) n.428T= n.473T= c.213T= (p.Tyr71=) c.306T= (p.Tyr102=) c.27T= (p.Tyr9=) | |
10 | g.124405457A>C | CA378636187 | OAT | c.627T>G (p.Tyr209Ter) n.428T>G n.473T>G c.213T>G (p.Tyr71Ter) c.306T>G (p.Tyr102Ter) c.27T>G (p.Tyr9Ter) | |
10 | g.124405457A>G | CA471762961 | OAT | c.627T>C (p.Tyr209=) n.428T>C n.473T>C c.213T>C (p.Tyr71=) c.306T>C (p.Tyr102=) c.27T>C (p.Tyr9=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124405457A>T | CA113994 | OAT | c.627T>A (p.Tyr209Ter) n.428T>A n.473T>A c.213T>A (p.Tyr71Ter) c.306T>A (p.Tyr102Ter) c.27T>A (p.Tyr9Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124405458T>A | CA378636191 | OAT | c.626A>T (p.Tyr209Phe) n.427A>T n.472A>T c.212A>T (p.Tyr71Phe) c.305A>T (p.Tyr102Phe) c.26A>T (p.Tyr9Phe) | |
10 | g.124405458T>C | CA378636193 | OAT | c.626A>G (p.Tyr209Cys) n.427A>G n.472A>G c.212A>G (p.Tyr71Cys) c.305A>G (p.Tyr102Cys) c.26A>G (p.Tyr9Cys) | ClinVar dbSNP gnomAD v4 COSMIC |
10 | g.124405458T>G | CA378636198 | OAT | c.626A>C (p.Tyr209Ser) n.427A>C n.472A>C c.212A>C (p.Tyr71Ser) c.305A>C (p.Tyr102Ser) c.26A>C (p.Tyr9Ser) | |
10 | g.124405459A>C | CA378636202 | OAT | c.625T>G (p.Tyr209Asp) n.426T>G n.471T>G c.211T>G (p.Tyr71Asp) c.304T>G (p.Tyr102Asp) c.25T>G (p.Tyr9Asp) | |
10 | g.124405459A>G | CA378636204 | OAT | c.625T>C (p.Tyr209His) n.426T>C n.471T>C c.211T>C (p.Tyr71His) c.304T>C (p.Tyr102His) c.25T>C (p.Tyr9His) | |
10 | g.124405459A>T | CA378636207 | OAT | c.625T>A (p.Tyr209Asn) n.426T>A n.471T>A c.211T>A (p.Tyr71Asn) c.304T>A (p.Tyr102Asn) c.25T>A (p.Tyr9Asn) | |
10 | g.124405460G>A | CA471762962 | OAT | c.624C>T (p.Pro208=) n.425C>T n.470C>T c.210C>T (p.Pro70=) c.303C>T (p.Pro101=) c.24C>T (p.Pro8=) | ClinVar dbSNP gnomAD v4 |
10 | g.124405460G>C | CA471762963 | OAT | c.624C>G (p.Pro208=) n.425C>G n.470C>G c.210C>G (p.Pro70=) c.303C>G (p.Pro101=) c.24C>G (p.Pro8=) | |
10 | g.124405460G>T | CA471762964 | OAT | c.624C>A (p.Pro208=) n.425C>A n.470C>A c.210C>A (p.Pro70=) c.303C>A (p.Pro101=) c.24C>A (p.Pro8=) | |
10 | g.124405461G>A | CA378636213 | OAT | c.623C>T (p.Pro208Leu) n.424C>T n.469C>T c.209C>T (p.Pro70Leu) c.302C>T (p.Pro101Leu) c.23C>T (p.Pro8Leu) | gnomAD v4 |
10 | g.124405461G>C | CA5733485 | OAT | c.623C>G (p.Pro208Arg) n.424C>G n.469C>G c.209C>G (p.Pro70Arg) c.302C>G (p.Pro101Arg) c.23C>G (p.Pro8Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124405461G= | CA1942339067 | OAT | c.623C= (p.Pro208=) n.424C= n.469C= c.209C= (p.Pro70=) c.302C= (p.Pro101=) c.23C= (p.Pro8=) | |
10 | g.124405461G>T | CA378636210 | OAT | c.623C>A (p.Pro208His) n.424C>A n.469C>A c.209C>A (p.Pro70His) c.302C>A (p.Pro101His) c.23C>A (p.Pro8His) | |
10 | g.124405462G>A | CA378636219 | OAT | c.622C>T (p.Pro208Ser) n.423C>T n.468C>T c.208C>T (p.Pro70Ser) c.301C>T (p.Pro101Ser) c.22C>T (p.Pro8Ser) | dbSNP gnomAD v4 |
10 | g.124405462G>C | CA378636222 | OAT | c.622C>G (p.Pro208Ala) n.423C>G n.468C>G c.208C>G (p.Pro70Ala) c.301C>G (p.Pro101Ala) c.22C>G (p.Pro8Ala) | |
10 | g.124405462G= | CA1942339068 | OAT | c.622C= (p.Pro208=) n.423C= n.468C= c.208C= (p.Pro70=) c.301C= (p.Pro101=) c.22C= (p.Pro8=) | |
10 | g.124405462G>T | CA378636220 | OAT | c.622C>A (p.Pro208Thr) n.423C>A n.468C>A c.208C>A (p.Pro70Thr) c.301C>A (p.Pro101Thr) c.22C>A (p.Pro8Thr) | |
10 | g.124405463A>C | CA378636223 | OAT | c.621T>G (p.Ile207Met) n.422T>G n.467T>G c.207T>G (p.Ile69Met) c.300T>G (p.Ile100Met) c.21T>G (p.Ile7Met) | |
10 | g.124405463A>G | CA471762966 | OAT | c.621T>C (p.Ile207=) n.422T>C n.467T>C c.207T>C (p.Ile69=) c.300T>C (p.Ile100=) c.21T>C (p.Ile7=) | |
10 | g.124405463A>T | CA471762965 | OAT | c.621T>A (p.Ile207=) n.422T>A n.467T>A c.207T>A (p.Ile69=) c.300T>A (p.Ile100=) c.21T>A (p.Ile7=) | |
10 | g.124405464A>C | CA378636226 | OAT | c.620T>G (p.Ile207Ser) n.421T>G n.466T>G c.206T>G (p.Ile69Ser) c.299T>G (p.Ile100Ser) c.20T>G (p.Ile7Ser) | |
10 | g.124405464A>G | CA378636227 | OAT | c.620T>C (p.Ile207Thr) n.421T>C n.466T>C c.206T>C (p.Ile69Thr) c.299T>C (p.Ile100Thr) c.20T>C (p.Ile7Thr) | gnomAD v4 |
10 | g.124405464A>T | CA378636228 | OAT | c.620T>A (p.Ile207Asn) n.421T>A n.466T>A c.206T>A (p.Ile69Asn) c.299T>A (p.Ile100Asn) c.20T>A (p.Ile7Asn) | |
10 | g.124405465T>A | CA378636229 | OAT | c.619A>T (p.Ile207Phe) n.420A>T n.465A>T c.205A>T (p.Ile69Phe) c.298A>T (p.Ile100Phe) c.19A>T (p.Ile7Phe) | ClinVar |
10 | g.124405465T>C | CA378636230 | OAT | c.619A>G (p.Ile207Val) n.420A>G n.465A>G c.205A>G (p.Ile69Val) c.298A>G (p.Ile100Val) c.19A>G (p.Ile7Val) | |
10 | g.124405465T>G | CA378636232 | OAT | c.619A>C (p.Ile207Leu) n.420A>C n.465A>C c.205A>C (p.Ile69Leu) c.298A>C (p.Ile100Leu) c.19A>C (p.Ile7Leu) | |
10 | g.124405466G>A | CA471762967 | OAT | c.618C>T (p.Ile206=) n.419C>T n.464C>T c.204C>T (p.Ile68=) c.297C>T (p.Ile99=) c.18C>T (p.Ile6=) | |
10 | g.124405466G>C | CA378636233 | OAT | c.618C>G (p.Ile206Met) n.419C>G n.464C>G c.204C>G (p.Ile68Met) c.297C>G (p.Ile99Met) c.18C>G (p.Ile6Met) | |
10 | g.124405466G>T | CA471762968 | OAT | c.618C>A (p.Ile206=) n.419C>A n.464C>A c.204C>A (p.Ile68=) c.297C>A (p.Ile99=) c.18C>A (p.Ile6=) | |
10 | g.124405467A>C | CA378636236 | OAT | c.617T>G (p.Ile206Ser) n.418T>G n.463T>G c.203T>G (p.Ile68Ser) c.296T>G (p.Ile99Ser) c.17T>G (p.Ile6Ser) | |
10 | g.124405467A>G | CA378636238 | OAT | c.617T>C (p.Ile206Thr) n.418T>C n.463T>C c.203T>C (p.Ile68Thr) c.296T>C (p.Ile99Thr) c.17T>C (p.Ile6Thr) | |
10 | g.124405467A>T | CA378636240 | OAT | c.617T>A (p.Ile206Asn) n.418T>A n.463T>A c.203T>A (p.Ile68Asn) c.296T>A (p.Ile99Asn) c.17T>A (p.Ile6Asn) | |
10 | g.124405468T>A | CA378636246 | OAT | c.616A>T (p.Ile206Phe) n.417A>T n.462A>T c.202A>T (p.Ile68Phe) c.295A>T (p.Ile99Phe) c.16A>T (p.Ile6Phe) | |
10 | g.124405468T>C | CA378636243 | OAT | c.616A>G (p.Ile206Val) n.417A>G n.462A>G c.202A>G (p.Ile68Val) c.295A>G (p.Ile99Val) c.16A>G (p.Ile6Val) | gnomAD v4 |
10 | g.124405468T>G | CA378636242 | OAT | c.616A>C (p.Ile206Leu) n.417A>C n.462A>C c.202A>C (p.Ile68Leu) c.295A>C (p.Ile99Leu) c.16A>C (p.Ile6Leu) | |
10 | g.124405469G>A | CA215250481 | OAT | c.615C>T (p.Asp205=) n.416C>T n.461C>T c.201C>T (p.Asp67=) c.294C>T (p.Asp98=) c.15C>T (p.Asp5=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.124405469G>C | CA378636249 | OAT | c.615C>G (p.Asp205Glu) n.416C>G n.461C>G c.201C>G (p.Asp67Glu) c.294C>G (p.Asp98Glu) c.15C>G (p.Asp5Glu) | |
10 | g.124405469G= | CA1942339069 | OAT | c.615C= (p.Asp205=) n.416C= n.461C= c.201C= (p.Asp67=) c.294C= (p.Asp98=) c.15C= (p.Asp5=) | |
10 | g.124405469G>T | CA378636251 | OAT | c.615C>A (p.Asp205Glu) n.416C>A n.461C>A c.201C>A (p.Asp67Glu) c.294C>A (p.Asp98Glu) c.15C>A (p.Asp5Glu) | |
10 | g.124405470T>A | CA378636253 | OAT | c.614A>T (p.Asp205Val) n.415A>T n.460A>T c.200A>T (p.Asp67Val) c.293A>T (p.Asp98Val) c.14A>T (p.Asp5Val) | |
10 | g.124405470T>C | CA5733486 | OAT | c.614A>G (p.Asp205Gly) n.415A>G n.460A>G c.200A>G (p.Asp67Gly) c.293A>G (p.Asp98Gly) c.14A>G (p.Asp5Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124405470T>G | CA5733487 | OAT | c.614A>C (p.Asp205Ala) n.415A>C n.460A>C c.200A>C (p.Asp67Ala) c.293A>C (p.Asp98Ala) c.14A>C (p.Asp5Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124405470T= | CA1942339070 | OAT | c.614A= (p.Asp205=) n.415A= n.460A= c.200A= (p.Asp67=) c.293A= (p.Asp98=) c.14A= (p.Asp5=) | |
10 | g.124405470_124405471delinsGT | CA2580082449 | OAT | c.613_614delinsAC (p.Asp205Thr) n.414_415delinsAC n.459_460delinsAC c.199_200delinsAC (p.Asp67Thr) c.292_293delinsAC (p.Asp98Thr) c.13_14delinsAC (p.Asp5Thr) | ClinVar |
10 | g.124405471C>A | CA378636257 | OAT | c.613G>T (p.Asp205Tyr) n.414G>T n.459G>T c.199G>T (p.Asp67Tyr) c.292G>T (p.Asp98Tyr) c.13G>T (p.Asp5Tyr) | |
10 | g.124405471C= | CA1942339071 | OAT | c.613G= (p.Asp205=) n.414G= n.459G= c.199G= (p.Asp67=) c.292G= (p.Asp98=) c.13G= (p.Asp5=) | |
10 | g.124405471C>G | CA378636260 | OAT | c.613G>C (p.Asp205His) n.414G>C n.459G>C c.199G>C (p.Asp67His) c.292G>C (p.Asp98His) c.13G>C (p.Asp5His) | gnomAD v4 |
10 | g.124405471C>T | CA5733488 | OAT | c.613G>A (p.Asp205Asn) n.414G>A n.459G>A c.199G>A (p.Asp67Asn) c.292G>A (p.Asp98Asn) c.13G>A (p.Asp5Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124405472G>A | CA5733489 | OAT | c.612C>T (p.Phe204=) n.413C>T n.458C>T c.198C>T (p.Phe66=) c.291C>T (p.Phe97=) c.12C>T (p.Phe4=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.124405472G>C | CA378636265 | OAT | c.612C>G (p.Phe204Leu) n.413C>G n.458C>G c.198C>G (p.Phe66Leu) c.291C>G (p.Phe97Leu) c.12C>G (p.Phe4Leu) | |
10 | g.124405472G= | CA1942339072 | OAT | c.612C= (p.Phe204=) n.413C= n.458C= c.198C= (p.Phe66=) c.291C= (p.Phe97=) c.12C= (p.Phe4=) | |
10 | g.124405472G>T | CA378636273 | OAT | c.612C>A (p.Phe204Leu) n.413C>A n.458C>A c.198C>A (p.Phe66Leu) c.291C>A (p.Phe97Leu) c.12C>A (p.Phe4Leu) | |
10 | g.124405473A>C | CA378636285 | OAT | c.611T>G (p.Phe204Cys) n.412T>G n.457T>G c.197T>G (p.Phe66Cys) c.290T>G (p.Phe97Cys) c.11T>G (p.Phe4Cys) | |
10 | g.124405473A>G | CA378636279 | OAT | c.611T>C (p.Phe204Ser) n.412T>C n.457T>C c.197T>C (p.Phe66Ser) c.290T>C (p.Phe97Ser) c.11T>C (p.Phe4Ser) | |
10 | g.124405473A>T | CA378636277 | OAT | c.611T>A (p.Phe204Tyr) n.412T>A n.457T>A c.197T>A (p.Phe66Tyr) c.290T>A (p.Phe97Tyr) c.11T>A (p.Phe4Tyr) | |
10 | g.124405474A>C | CA378636289 | OAT | c.610T>G (p.Phe204Val) n.411T>G n.456T>G c.196T>G (p.Phe66Val) c.289T>G (p.Phe97Val) c.10T>G (p.Phe4Val) | |
10 | g.124405474A>G | CA378636286 | OAT | c.610T>C (p.Phe204Leu) n.411T>C n.456T>C c.196T>C (p.Phe66Leu) c.289T>C (p.Phe97Leu) c.10T>C (p.Phe4Leu) | |
10 | g.124405474A>T | CA378636288 | OAT | c.610T>A (p.Phe204Ile) n.411T>A n.456T>A c.196T>A (p.Phe66Ile) c.289T>A (p.Phe97Ile) c.10T>A (p.Phe4Ile) | |
10 | g.124405475T>A | CA471762969 | OAT | c.609A>T (p.Gly203=) n.410A>T n.455A>T c.195A>T (p.Gly65=) c.288A>T (p.Gly96=) c.9A>T (p.Gly3=) | |
10 | g.124405475T>C | CA471762970 | OAT | c.609A>G (p.Gly203=) n.410A>G n.455A>G c.195A>G (p.Gly65=) c.288A>G (p.Gly96=) c.9A>G (p.Gly3=) | |
10 | g.124405475T>G | CA471762971 | OAT | c.609A>C (p.Gly203=) n.410A>C n.455A>C c.195A>C (p.Gly65=) c.288A>C (p.Gly96=) c.9A>C (p.Gly3=) | |
10 | g.124405476C>A | CA378636290 | OAT | c.608G>T (p.Gly203Val) n.409G>T n.454G>T c.194G>T (p.Gly65Val) c.287G>T (p.Gly96Val) c.8G>T (p.Gly3Val) | |
10 | g.124405476C= | CA1942339073 | OAT | c.608G= (p.Gly203=) n.409G= n.454G= c.194G= (p.Gly65=) c.287G= (p.Gly96=) c.8G= (p.Gly3=) | |
10 | g.124405476C>G | CA378636291 | OAT | c.608G>C (p.Gly203Ala) n.409G>C n.454G>C c.194G>C (p.Gly65Ala) c.287G>C (p.Gly96Ala) c.8G>C (p.Gly3Ala) | dbSNP gnomAD v4 |
10 | g.124405476C>T | CA378636293 | OAT | c.608G>A (p.Gly203Glu) n.409G>A n.454G>A c.194G>A (p.Gly65Glu) c.287G>A (p.Gly96Glu) c.8G>A (p.Gly3Glu) | dbSNP |
10 | g.124405477C>A | CA378636296 | OAT | c.607G>T (p.Gly203Ter) n.408G>T n.453G>T c.193G>T (p.Gly65Ter) c.286G>T (p.Gly96Ter) c.7G>T (p.Gly3Ter) | COSMIC |
10 | g.124405477C>G | CA378636299 | OAT | c.607G>C (p.Gly203Arg) n.408G>C n.453G>C c.193G>C (p.Gly65Arg) c.286G>C (p.Gly96Arg) c.7G>C (p.Gly3Arg) | |
10 | g.124405477C>T | CA378636302 | OAT | c.607G>A (p.Gly203Arg) n.408G>A n.453G>A c.193G>A (p.Gly65Arg) c.286G>A (p.Gly96Arg) c.7G>A (p.Gly3Arg) | |
10 | g.124405478C>A | CA471762972 | OAT | c.606G>T (p.Pro202=) n.407G>T n.452G>T c.192G>T (p.Pro64=) c.285G>T (p.Pro95=) c.6G>T (p.Pro2=) | dbSNP |
10 | g.124405478C= | CA1942339074 | OAT | c.606G= (p.Pro202=) n.407G= n.452G= c.192G= (p.Pro64=) c.285G= (p.Pro95=) c.6G= (p.Pro2=) | |
10 | g.124405478C>G | CA471762973 | OAT | c.606G>C (p.Pro202=) n.407G>C n.452G>C c.192G>C (p.Pro64=) c.285G>C (p.Pro95=) c.6G>C (p.Pro2=) | |
10 | g.124405478C>T | CA5733490 | OAT | c.606G>A (p.Pro202=) n.407G>A n.452G>A c.192G>A (p.Pro64=) c.285G>A (p.Pro95=) c.6G>A (p.Pro2=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124405479G>A | CA5733491 | OAT | c.605C>T (p.Pro202Leu) n.406C>T n.451C>T c.191C>T (p.Pro64Leu) c.284C>T (p.Pro95Leu) c.5C>T (p.Pro2Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124405479G>C | CA378636306 | OAT | c.605C>G (p.Pro202Arg) n.406C>G n.451C>G c.191C>G (p.Pro64Arg) c.284C>G (p.Pro95Arg) c.5C>G (p.Pro2Arg) | |
10 | g.124405479G= | CA1942339075 | OAT | c.605C= (p.Pro202=) n.406C= n.451C= c.191C= (p.Pro64=) c.284C= (p.Pro95=) c.5C= (p.Pro2=) | |
10 | g.124405479G>T | CA378636309 | OAT | c.605C>A (p.Pro202Gln) n.406C>A n.451C>A c.191C>A (p.Pro64Gln) c.284C>A (p.Pro95Gln) c.5C>A (p.Pro2Gln) | |
10 | g.124405480G>A | CA215250529 | OAT | c.604C>T (p.Pro202Ser) n.405C>T n.450C>T c.190C>T (p.Pro64Ser) c.283C>T (p.Pro95Ser) c.4C>T (p.Pro2Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.124405480G>C | CA378636315 | OAT | c.604C>G (p.Pro202Ala) n.405C>G n.450C>G c.190C>G (p.Pro64Ala) c.283C>G (p.Pro95Ala) c.4C>G (p.Pro2Ala) | |
10 | g.124405480G= | CA1942339076 | OAT | c.604C= (p.Pro202=) n.405C= n.450C= c.190C= (p.Pro64=) c.283C= (p.Pro95=) c.4C= (p.Pro2=) | |
10 | g.124405480G>T | CA378636312 | OAT | c.604C>A (p.Pro202Thr) n.405C>A n.450C>A c.190C>A (p.Pro64Thr) c.283C>A (p.Pro95Thr) c.4C>A (p.Pro2Thr) | ClinVar dbSNP gnomAD v4 |
10 | g.124405481C>A | CA378636318 | OAT | c.603G>T (p.Met201Ile) n.404G>T n.449G>T c.189G>T (p.Met63Ile) c.282G>T (p.Met94Ile) c.3G>T (p.Met1Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124405481C= | CA1942339077 | OAT | c.603G= (p.Met201=) n.404G= n.449G= c.189G= (p.Met63=) c.282G= (p.Met94=) c.3G= (p.Met1=) | |
10 | g.124405481C>G | CA378636321 | OAT | c.603G>C (p.Met201Ile) n.404G>C n.449G>C c.189G>C (p.Met63Ile) c.282G>C (p.Met94Ile) c.3G>C (p.Met1Ile) | |
10 | g.124405481C>T | CA378636322 | OAT | c.603G>A (p.Met201Ile) n.404G>A n.449G>A c.189G>A (p.Met63Ile) c.282G>A (p.Met94Ile) c.3G>A (p.Met1Ile) | |
10 | g.124405482A>C | CA378636323 | OAT | c.602T>G (p.Met201Arg) n.403T>G n.448T>G c.188T>G (p.Met63Arg) c.281T>G (p.Met94Arg) c.2T>G (p.Met1Arg) | |
10 | g.124405482A>G | CA378636329 | OAT | c.602T>C (p.Met201Thr) n.403T>C n.448T>C c.188T>C (p.Met63Thr) c.281T>C (p.Met94Thr) c.2T>C (p.Met1Thr) | |
10 | g.124405482A>T | CA378636331 | OAT | c.602T>A (p.Met201Lys) n.403T>A n.448T>A c.188T>A (p.Met63Lys) c.281T>A (p.Met94Lys) c.2T>A (p.Met1Lys) | |
10 | g.124405483del | CA2611308642 | OAT | c.601del (p.Met201CysfsTer29) n.402del n.447del c.187del (p.Met63CysfsTer29) c.280del (p.Met94CysfsTer29) c.1del (p.Met1CysfsTer29) | gnomAD v4 |
10 | g.124405483T>A | CA378636332 | OAT | c.601A>T (p.Met201Leu) n.402A>T n.447A>T c.187A>T (p.Met63Leu) c.280A>T (p.Met94Leu) c.1A>T (p.Met1Leu) | |
10 | g.124405483T>C | CA378636337 | OAT | c.601A>G (p.Met201Val) n.402A>G n.447A>G c.187A>G (p.Met63Val) c.280A>G (p.Met94Val) c.1A>G (p.Met1Val) | |
10 | g.124405483T>G | CA378636335 | OAT | c.601A>C (p.Met201Leu) n.402A>C n.447A>C c.187A>C (p.Met63Leu) c.280A>C (p.Met94Leu) c.1A>C (p.Met1Leu) | |
10 | g.124405483_124405492del | CA2695201052 | OAT | c.592_601del (p.Gly198CysfsTer29) n.393_402del n.438_447del c.178_187del (p.Gly60CysfsTer29) c.271_280del (p.Gly91CysfsTer29) c.-9_1del | ClinVar |
10 | g.124405484A>C | CA378636340 | OAT | c.600T>G (p.Phe200Leu) n.401T>G n.446T>G c.186T>G (p.Phe62Leu) c.279T>G (p.Phe93Leu) c.-1T>G (n.-1T>G) | |
10 | g.124405484A>G | CA471762974 | OAT | c.600T>C (p.Phe200=) n.401T>C n.446T>C c.186T>C (p.Phe62=) c.279T>C (p.Phe93=) c.-1T>C (n.-1T>C) | |
10 | g.124405484A>T | CA378636341 | OAT | c.600T>A (p.Phe200Leu) n.401T>A n.446T>A c.186T>A (p.Phe62Leu) c.279T>A (p.Phe93Leu) c.-1T>A (n.-1T>A) | |
10 | g.124405485A>C | CA378636344 | OAT | c.599T>G (p.Phe200Cys) n.400T>G n.445T>G c.185T>G (p.Phe62Cys) c.278T>G (p.Phe93Cys) c.-2T>G (n.-2T>G) | |
10 | g.124405485A>G | CA378636346 | OAT | c.599T>C (p.Phe200Ser) n.400T>C n.445T>C c.185T>C (p.Phe62Ser) c.278T>C (p.Phe93Ser) c.-2T>C (n.-2T>C) | |
10 | g.124405485A>T | CA378636349 | OAT | c.599T>A (p.Phe200Tyr) n.400T>A n.445T>A c.185T>A (p.Phe62Tyr) c.278T>A (p.Phe93Tyr) c.-2T>A (n.-2T>A) | |
10 | g.124405486A>C | CA378636356 | OAT | c.598T>G (p.Phe200Val) n.399T>G n.444T>G c.184T>G (p.Phe62Val) c.277T>G (p.Phe93Val) c.-3T>G (n.-3T>G) | |
10 | g.124405486A>G | CA378636358 | OAT | c.598T>C (p.Phe200Leu) n.399T>C n.444T>C c.184T>C (p.Phe62Leu) c.277T>C (p.Phe93Leu) c.-3T>C (n.-3T>C) | |
10 | g.124405486A>T | CA378636355 | OAT | c.598T>A (p.Phe200Ile) n.399T>A n.444T>A c.184T>A (p.Phe62Ile) c.277T>A (p.Phe93Ile) c.-3T>A (n.-3T>A) | |
10 | g.124405487T>A | CA471762975 | OAT | c.597A>T (p.Pro199=) n.398A>T n.443A>T c.183A>T (p.Pro61=) c.276A>T (p.Pro92=) c.-4A>T (n.-4A>T) | |
10 | g.124405487T>C | CA471762977 | OAT | c.597A>G (p.Pro199=) n.398A>G n.443A>G c.183A>G (p.Pro61=) c.276A>G (p.Pro92=) c.-4A>G (n.-4A>G) | dbSNP |
10 | g.124405487T>G | CA471762976 | OAT | c.597A>C (p.Pro199=) n.398A>C n.443A>C c.183A>C (p.Pro61=) c.276A>C (p.Pro92=) c.-4A>C (n.-4A>C) | |
10 | g.124405487T= | CA1942339078 | OAT | c.597A= (p.Pro199=) n.398A= n.443A= c.183A= (p.Pro61=) c.276A= (p.Pro92=) c.-4A= (n.-4A=) | |
10 | g.124405488G>A | CA378636361 | OAT | c.596C>T (p.Pro199Leu) n.397C>T n.442C>T c.182C>T (p.Pro61Leu) c.275C>T (p.Pro92Leu) c.-5C>T (n.-5C>T) | |
10 | g.124405488G>C | CA378636363 | OAT | c.596C>G (p.Pro199Arg) n.397C>G n.442C>G c.182C>G (p.Pro61Arg) c.275C>G (p.Pro92Arg) c.-5C>G (n.-5C>G) | |
10 | g.124405488G= | CA1942339079 | OAT | c.596C= (p.Pro199=) n.397C= n.442C= c.182C= (p.Pro61=) c.275C= (p.Pro92=) c.-5C= (n.-5C=) | |
10 | g.124405488G>T | CA114019 | OAT | c.596C>A (p.Pro199Gln) n.397C>A n.442C>A c.182C>A (p.Pro61Gln) c.275C>A (p.Pro92Gln) c.-5C>A (n.-5C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124405489G>A | CA378636368 | OAT | c.595C>T (p.Pro199Ser) n.396C>T n.441C>T c.181C>T (p.Pro61Ser) c.274C>T (p.Pro92Ser) c.-6C>T (n.-6C>T) | |
10 | g.124405489G>C | CA378636369 | OAT | c.595C>G (p.Pro199Ala) n.396C>G n.441C>G c.181C>G (p.Pro61Ala) c.274C>G (p.Pro92Ala) c.-6C>G (n.-6C>G) | |
10 | g.124405489G= | CA1942339080 | OAT | c.595C= (p.Pro199=) n.396C= n.441C= c.181C= (p.Pro61=) c.274C= (p.Pro92=) c.-6C= (n.-6C=) | |
10 | g.124405489G>T | CA378636372 | OAT | c.595C>A (p.Pro199Thr) n.396C>A n.441C>A c.181C>A (p.Pro61Thr) c.274C>A (p.Pro92Thr) c.-6C>A (n.-6C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124405490T>A | CA471762978 | OAT | c.594A>T (p.Gly198=) n.395A>T n.440A>T c.180A>T (p.Gly60=) c.273A>T (p.Gly91=) c.-7A>T (n.-7A>T) | |
10 | g.124405490T>C | CA471762979 | OAT | c.594A>G (p.Gly198=) n.395A>G n.440A>G c.180A>G (p.Gly60=) c.273A>G (p.Gly91=) c.-7A>G (n.-7A>G) | |
10 | g.124405490T>G | CA471762980 | OAT | c.594A>C (p.Gly198=) n.395A>C n.440A>C c.180A>C (p.Gly60=) c.273A>C (p.Gly91=) c.-7A>C (n.-7A>C) | |
10 | g.124405491C>A | CA378636381 | OAT | c.593G>T (p.Gly198Val) n.394G>T n.439G>T c.179G>T (p.Gly60Val) c.272G>T (p.Gly91Val) c.-8G>T (n.-8G>T) | |
10 | g.124405491C>G | CA378636375 | OAT | c.593G>C (p.Gly198Ala) n.394G>C n.439G>C c.179G>C (p.Gly60Ala) c.272G>C (p.Gly91Ala) c.-8G>C (n.-8G>C) | |
10 | g.124405491C>T | CA378636378 | OAT | c.593G>A (p.Gly198Glu) n.394G>A n.439G>A c.179G>A (p.Gly60Glu) c.272G>A (p.Gly91Glu) c.-8G>A (n.-8G>A) | COSMIC |
10 | g.124405492C>A | CA378636384 | OAT | c.592G>T (p.Gly198Ter) n.393G>T n.438G>T c.178G>T (p.Gly60Ter) c.271G>T (p.Gly91Ter) c.-9G>T (n.-9G>T) | |
10 | g.124405492C>G | CA378636391 | OAT | c.592G>C (p.Gly198Arg) n.393G>C n.438G>C c.178G>C (p.Gly60Arg) c.271G>C (p.Gly91Arg) c.-9G>C (n.-9G>C) | |
10 | g.124405492C>T | CA378636396 | OAT | c.592G>A (p.Gly198Arg) n.393G>A n.438G>A c.178G>A (p.Gly60Arg) c.271G>A (p.Gly91Arg) c.-9G>A (n.-9G>A) | |
10 | g.124405493A>C | CA378636398 | OAT | c.591T>G (p.Phe197Leu) n.392T>G n.437T>G c.177T>G (p.Phe59Leu) c.270T>G (p.Phe90Leu) c.-10T>G (n.-10T>G) | |
10 | g.124405493A>G | CA471762981 | OAT | c.591T>C (p.Phe197=) n.392T>C n.437T>C c.177T>C (p.Phe59=) c.270T>C (p.Phe90=) c.-10T>C (n.-10T>C) | |
10 | g.124405493A>T | CA378636401 | OAT | c.591T>A (p.Phe197Leu) n.392T>A n.437T>A c.177T>A (p.Phe59Leu) c.270T>A (p.Phe90Leu) c.-10T>A (n.-10T>A) | |
10 | g.124405496dup | CA2739276047 | OAT | c.591dup (p.Gly198TrpfsTer13) n.392dup n.437dup c.177dup (p.Gly60TrpfsTer13) c.270dup (p.Gly91TrpfsTer13) c.-10dup (n.-10dup) | ClinVar |
10 | g.124405494A>C | CA378636409 | OAT | c.590T>G (p.Phe197Cys) n.391T>G n.436T>G c.176T>G (p.Phe59Cys) c.269T>G (p.Phe90Cys) c.-11T>G (n.-11T>G) | |
10 | g.124405494A>G | CA378636403 | OAT | c.590T>C (p.Phe197Ser) n.391T>C n.436T>C c.176T>C (p.Phe59Ser) c.269T>C (p.Phe90Ser) c.-11T>C (n.-11T>C) | |
10 | g.124405494A>T | CA378636406 | OAT | c.590T>A (p.Phe197Tyr) n.391T>A n.436T>A c.176T>A (p.Phe59Tyr) c.269T>A (p.Phe90Tyr) c.-11T>A (n.-11T>A) | |
10 | g.124405495A>C | CA378636411 | OAT | c.589T>G (p.Phe197Val) n.390T>G n.435T>G c.175T>G (p.Phe59Val) c.268T>G (p.Phe90Val) c.-12T>G (n.-12T>G) | |
10 | g.124405495A>G | CA378636413 | OAT | c.589T>C (p.Phe197Leu) n.390T>C n.435T>C c.175T>C (p.Phe59Leu) c.268T>C (p.Phe90Leu) c.-12T>C (n.-12T>C) | |
10 | g.124405495A>T | CA378636416 | OAT | c.589T>A (p.Phe197Ile) n.390T>A n.435T>A c.175T>A (p.Phe59Ile) c.268T>A (p.Phe90Ile) c.-12T>A (n.-12T>A) | |
10 | g.124405496A>C | CA471762984 | OAT | c.588T>G (p.Gly196=) n.389T>G n.434T>G c.174T>G (p.Gly58=) c.267T>G (p.Gly89=) c.-13T>G (n.-13T>G) | |
10 | g.124405496A>G | CA471762983 | OAT | c.588T>C (p.Gly196=) n.389T>C n.434T>C c.174T>C (p.Gly58=) c.267T>C (p.Gly89=) c.-13T>C (n.-13T>C) | |
10 | g.124405496A>T | CA471762982 | OAT | c.588T>A (p.Gly196=) n.389T>A n.434T>A c.174T>A (p.Gly58=) c.267T>A (p.Gly89=) c.-13T>A (n.-13T>A) | |
10 | g.124405497C>A | CA378636419 | OAT | c.587G>T (p.Gly196Val) n.388G>T n.433G>T c.173G>T (p.Gly58Val) c.266G>T (p.Gly89Val) c.-14G>T (n.-14G>T) | |
10 | g.124405497C>G | CA378636420 | OAT | c.587G>C (p.Gly196Ala) n.388G>C n.433G>C c.173G>C (p.Gly58Ala) c.266G>C (p.Gly89Ala) c.-14G>C (n.-14G>C) | |
10 | g.124405497C>T | CA378636423 | OAT | c.587G>A (p.Gly196Asp) n.388G>A n.433G>A c.173G>A (p.Gly58Asp) c.266G>A (p.Gly89Asp) c.-14G>A (n.-14G>A) | |
10 | g.124405498C>A | CA378636426 | OAT | c.586G>T (p.Gly196Cys) n.387G>T n.432G>T c.172G>T (p.Gly58Cys) c.265G>T (p.Gly89Cys) c.-15G>T (n.-15G>T) | |
10 | g.124405498C>G | CA378636428 | OAT | c.586G>C (p.Gly196Arg) n.387G>C n.432G>C c.172G>C (p.Gly58Arg) c.265G>C (p.Gly89Arg) c.-15G>C (n.-15G>C) | |
10 | g.124405498C>T | CA378636430 | OAT | c.586G>A (p.Gly196Ser) n.387G>A n.432G>A c.172G>A (p.Gly58Ser) c.265G>A (p.Gly89Ser) c.-15G>A (n.-15G>A) | gnomAD v4 |
10 | g.124405499A= | CA1942339081 | OAT | c.585T= (p.Asp195=) n.386T= n.431T= c.171T= (p.Asp57=) c.264T= (p.Asp88=) c.-16T= (n.-16T=) | |
10 | g.124405499A>C | CA378636433 | OAT | c.585T>G (p.Asp195Glu) n.386T>G n.431T>G c.171T>G (p.Asp57Glu) c.264T>G (p.Asp88Glu) c.-16T>G (n.-16T>G) | |
10 | g.124405499A>G | CA5733492 | OAT | c.585T>C (p.Asp195=) n.386T>C n.431T>C c.171T>C (p.Asp57=) c.264T>C (p.Asp88=) c.-16T>C (n.-16T>C) | dbSNP ExAC gnomAD v2 |
10 | g.124405499A>T | CA378636437 | OAT | c.585T>A (p.Asp195Glu) n.386T>A n.431T>A c.171T>A (p.Asp57Glu) c.264T>A (p.Asp88Glu) c.-16T>A (n.-16T>A) | |
10 | g.124405500T>A | CA378636440 | OAT | c.584A>T (p.Asp195Val) n.385A>T n.430A>T c.170A>T (p.Asp57Val) c.263A>T (p.Asp88Val) c.-17A>T (n.-17A>T) | |
10 | g.124405500T>C | CA378636444 | OAT | c.584A>G (p.Asp195Gly) n.385A>G n.430A>G c.170A>G (p.Asp57Gly) c.263A>G (p.Asp88Gly) c.-17A>G (n.-17A>G) | |
10 | g.124405500T>G | CA378636442 | OAT | c.584A>C (p.Asp195Ala) n.385A>C n.430A>C c.170A>C (p.Asp57Ala) c.263A>C (p.Asp88Ala) c.-17A>C (n.-17A>C) | |
10 | g.124405501C>A | CA144168 | OAT | c.583G>T (p.Asp195Tyr) n.384G>T n.429G>T c.169G>T (p.Asp57Tyr) c.262G>T (p.Asp88Tyr) c.-18G>T (n.-18G>T) | ClinVar dbSNP |
10 | g.124405501C= | CA1942339082 | OAT | c.583G= (p.Asp195=) n.384G= n.429G= c.169G= (p.Asp57=) c.262G= (p.Asp88=) c.-18G= (n.-18G=) | |
10 | g.124405501C>G | CA378636450 | OAT | c.583G>C (p.Asp195His) n.384G>C n.429G>C c.169G>C (p.Asp57His) c.262G>C (p.Asp88His) c.-18G>C (n.-18G>C) | gnomAD v4 |
10 | g.124405501C>T | CA378636453 | OAT | c.583G>A (p.Asp195Asn) n.384G>A n.429G>A c.169G>A (p.Asp57Asn) c.262G>A (p.Asp88Asn) c.-18G>A (n.-18G>A) | ClinVar dbSNP gnomAD v4 |
10 | g.124405502G>A | CA5733493 | OAT | c.582C>T (p.Tyr194=) n.383C>T n.428C>T c.168C>T (p.Tyr56=) c.261C>T (p.Tyr87=) c.-19C>T (n.-19C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124405502G>C | CA378636457 | OAT | c.582C>G (p.Tyr194Ter) n.383C>G n.428C>G c.168C>G (p.Tyr56Ter) c.261C>G (p.Tyr87Ter) c.-19C>G (n.-19C>G) | ClinVar |
10 | g.124405502G= | CA1942339083 | OAT | c.582C= (p.Tyr194=) n.383C= n.428C= c.168C= (p.Tyr56=) c.261C= (p.Tyr87=) c.-19C= (n.-19C=) | |
10 | g.124405502G>T | CA378636460 | OAT | c.582C>A (p.Tyr194Ter) n.383C>A n.428C>A c.168C>A (p.Tyr56Ter) c.261C>A (p.Tyr87Ter) c.-19C>A (n.-19C>A) | |
10 | g.124405503T>A | CA378636463 | OAT | c.581A>T (p.Tyr194Phe) n.382A>T n.427A>T c.167A>T (p.Tyr56Phe) c.260A>T (p.Tyr87Phe) c.-20A>T (n.-20A>T) | |
10 | g.124405503T>C | CA378636464 | OAT | c.581A>G (p.Tyr194Cys) n.382A>G n.427A>G c.167A>G (p.Tyr56Cys) c.260A>G (p.Tyr87Cys) c.-20A>G (n.-20A>G) | |
10 | g.124405503T>G | CA378636467 | OAT | c.581A>C (p.Tyr194Ser) n.382A>C n.427A>C c.167A>C (p.Tyr56Ser) c.260A>C (p.Tyr87Ser) c.-20A>C (n.-20A>C) | |
10 | g.124405503dup | CA2574709520 | OAT | c.581dup (p.Tyr194Ter) n.382dup n.427dup c.167dup (p.Tyr56Ter) c.260dup (p.Tyr87Ter) c.-20dup (n.-20dup) | ClinVar |
10 | g.124405504A>C | CA378636469 | OAT | c.580T>G (p.Tyr194Asp) n.381T>G n.426T>G c.166T>G (p.Tyr56Asp) c.259T>G (p.Tyr87Asp) c.-21T>G (n.-21T>G) | |
10 | g.124405504A>G | CA378636470 | OAT | c.580T>C (p.Tyr194His) n.381T>C n.426T>C c.166T>C (p.Tyr56His) c.259T>C (p.Tyr87His) c.-21T>C (n.-21T>C) | gnomAD v4 |
10 | g.124405504A>T | CA378636473 | OAT | c.580T>A (p.Tyr194Asn) n.381T>A n.426T>A c.166T>A (p.Tyr56Asn) c.259T>A (p.Tyr87Asn) c.-21T>A (n.-21T>A) | |
10 | g.124405505del | CA2509165103 | OAT | c.580del (p.Tyr194ThrfsTer?) n.381del n.426del c.166del (p.Tyr56ThrfsTer?) c.259del (p.Tyr87ThrfsTer?) c.-21del (n.-21del) | |
10 | g.124405505A>C | CA378636478 | OAT | c.579T>G (p.Ser193Arg) n.380T>G n.425T>G c.165T>G (p.Ser55Arg) c.258T>G (p.Ser86Arg) c.-22T>G (n.-22T>G) | |
10 | g.124405505A>G | CA471762985 | OAT | c.579T>C (p.Ser193=) n.380T>C n.425T>C c.165T>C (p.Ser55=) c.258T>C (p.Ser86=) c.-22T>C (n.-22T>C) | |
10 | g.124405505A>T | CA378636476 | OAT | c.579T>A (p.Ser193Arg) n.380T>A n.425T>A c.165T>A (p.Ser55Arg) c.258T>A (p.Ser86Arg) c.-22T>A (n.-22T>A) | |
10 | g.124405506C>A | CA378636480 | OAT | c.578G>T (p.Ser193Ile) n.379G>T n.424G>T c.164G>T (p.Ser55Ile) c.257G>T (p.Ser86Ile) c.-23G>T (n.-23G>T) | |
10 | g.124405506C= | CA1942339084 | OAT | c.578G= (p.Ser193=) n.379G= n.424G= c.164G= (p.Ser55=) c.257G= (p.Ser86=) c.-23G= (n.-23G=) | |
10 | g.124405506C>G | CA378636482 | OAT | c.578G>C (p.Ser193Thr) n.379G>C n.424G>C c.164G>C (p.Ser55Thr) c.257G>C (p.Ser86Thr) c.-23G>C (n.-23G>C) | |
10 | g.124405506C>T | CA5733494 | OAT | c.578G>A (p.Ser193Asn) n.379G>A n.424G>A c.164G>A (p.Ser55Asn) c.257G>A (p.Ser86Asn) c.-23G>A (n.-23G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.124405507T>A | CA378636490 | OAT | c.577A>T (p.Ser193Cys) n.378A>T n.423A>T c.163A>T (p.Ser55Cys) c.256A>T (p.Ser86Cys) c.-24A>T (n.-24A>T) | |
10 | g.124405507T>C | CA378636492 | OAT | c.577A>G (p.Ser193Gly) n.378A>G n.423A>G c.163A>G (p.Ser55Gly) c.256A>G (p.Ser86Gly) c.-24A>G (n.-24A>G) | |
10 | g.124405507T>G | CA378636495 | OAT | c.577A>C (p.Ser193Arg) n.378A>C n.423A>C c.163A>C (p.Ser55Arg) c.256A>C (p.Ser86Arg) c.-24A>C (n.-24A>C) | |
10 | g.124405508G>A | CA471762986 | OAT | c.576C>T (p.Thr192=) n.377C>T n.422C>T c.162C>T (p.Thr54=) c.255C>T (p.Thr85=) c.-25C>T (n.-25C>T) | |
10 | g.124405508G>C | CA471762987 | OAT | c.576C>G (p.Thr192=) n.377C>G n.422C>G c.162C>G (p.Thr54=) c.255C>G (p.Thr85=) c.-25C>G (n.-25C>G) | |
10 | g.124405508G>T | CA471762988 | OAT | c.576C>A (p.Thr192=) n.377C>A n.422C>A c.162C>A (p.Thr54=) c.255C>A (p.Thr85=) c.-25C>A (n.-25C>A) | |
10 | g.124405509del | CA2499220187 | OAT | c.576del (p.Ser193ValfsTer?) n.377del n.422del c.162del (p.Ser55ValfsTer?) c.255del (p.Ser86ValfsTer?) c.-25del (n.-25del) | ClinVar dbSNP |
10 | g.124405509G>A | CA378636498 | OAT | c.575C>T (p.Thr192Ile) n.376C>T n.421C>T c.161C>T (p.Thr54Ile) c.254C>T (p.Thr85Ile) c.-26C>T (n.-26C>T) | |
10 | g.124405509G>C | CA378636501 | OAT | c.575C>G (p.Thr192Ser) n.376C>G n.421C>G c.161C>G (p.Thr54Ser) c.254C>G (p.Thr85Ser) c.-26C>G (n.-26C>G) | |
10 | g.124405509G>T | CA378636503 | OAT | c.575C>A (p.Thr192Asn) n.376C>A n.421C>A c.161C>A (p.Thr54Asn) c.254C>A (p.Thr85Asn) c.-26C>A (n.-26C>A) | |
10 | g.124405510T>A | CA378636505 | OAT | c.574A>T (p.Thr192Ser) n.375A>T n.420A>T c.160A>T (p.Thr54Ser) c.253A>T (p.Thr85Ser) c.-27A>T (n.-27A>T) | |
10 | g.124405510T>C | CA378636507 | OAT | c.574A>G (p.Thr192Ala) n.375A>G n.420A>G c.160A>G (p.Thr54Ala) c.253A>G (p.Thr85Ala) c.-27A>G (n.-27A>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.124405510T>G | CA378636508 | OAT | c.574A>C (p.Thr192Pro) n.375A>C n.420A>C c.160A>C (p.Thr54Pro) c.253A>C (p.Thr85Pro) c.-27A>C (n.-27A>C) | |
10 | g.124405510T= | CA1942339085 | OAT | c.574A= (p.Thr192=) n.375A= n.420A= c.160A= (p.Thr54=) c.253A= (p.Thr85=) c.-27A= (n.-27A=) | |
10 | g.124405511T>A | CA471762989 | OAT | c.573A>T (p.Pro191=) n.374A>T n.419A>T c.159A>T (p.Pro53=) c.252A>T (p.Pro84=) c.-28A>T (n.-28A>T) | |
10 | g.124405511T>C | CA471762990 | OAT | c.573A>G (p.Pro191=) n.374A>G n.419A>G c.159A>G (p.Pro53=) c.252A>G (p.Pro84=) c.-28A>G (n.-28A>G) | ClinVar |
10 | g.124405511T>G | CA471762991 | OAT | c.573A>C (p.Pro191=) n.374A>C n.419A>C c.159A>C (p.Pro53=) c.252A>C (p.Pro84=) c.-28A>C (n.-28A>C) | |
10 | g.124405512G>A | CA378636513 | OAT | c.572C>T (p.Pro191Leu) n.373C>T n.418C>T c.158C>T (p.Pro53Leu) c.251C>T (p.Pro84Leu) c.-29C>T (n.-29C>T) | |
10 | g.124405512G>C | CA378636511 | OAT | c.572C>G (p.Pro191Arg) n.373C>G n.418C>G c.158C>G (p.Pro53Arg) c.251C>G (p.Pro84Arg) c.-29C>G (n.-29C>G) | |
10 | g.124405512G>T | CA378636510 | OAT | c.572C>A (p.Pro191Gln) n.373C>A n.418C>A c.158C>A (p.Pro53Gln) c.251C>A (p.Pro84Gln) c.-29C>A (n.-29C>A) | |
10 | g.124405513G>A | CA378636515 | OAT | c.571C>T (p.Pro191Ser) n.372C>T n.417C>T c.157C>T (p.Pro53Ser) c.250C>T (p.Pro84Ser) c.-30C>T (n.-30C>T) | dbSNP gnomAD v4 |
10 | g.124405513G>C | CA378636519 | OAT | c.571C>G (p.Pro191Ala) n.372C>G n.417C>G c.157C>G (p.Pro53Ala) c.250C>G (p.Pro84Ala) c.-30C>G (n.-30C>G) | |
10 | g.124405513G= | CA1942339086 | OAT | c.571C= (p.Pro191=) n.372C= n.417C= c.157C= (p.Pro53=) c.250C= (p.Pro84=) c.-30C= (n.-30C=) | |
10 | g.124405513G>T | CA378636517 | OAT | c.571C>A (p.Pro191Thr) n.372C>A n.417C>A c.157C>A (p.Pro53Thr) c.250C>A (p.Pro84Thr) c.-30C>A (n.-30C>A) | |
10 | g.124405514G>A | CA471762992 | OAT | c.570C>T (p.Asp190=) n.371C>T n.416C>T c.156C>T (p.Asp52=) c.249C>T (p.Asp83=) c.-31C>T (n.-31C>T) | dbSNP |
10 | g.124405514G>C | CA378636522 | OAT | c.570C>G (p.Asp190Glu) n.371C>G n.416C>G c.156C>G (p.Asp52Glu) c.249C>G (p.Asp83Glu) c.-31C>G (n.-31C>G) | |
10 | g.124405514G= | CA1942339087 | OAT | c.570C= (p.Asp190=) n.371C= n.416C= c.156C= (p.Asp52=) c.249C= (p.Asp83=) c.-31C= (n.-31C=) | |
10 | g.124405514G>T | CA378636524 | OAT | c.570C>A (p.Asp190Glu) n.371C>A n.416C>A c.156C>A (p.Asp52Glu) c.249C>A (p.Asp83Glu) c.-31C>A (n.-31C>A) | gnomAD v4 |
10 | g.124405515T>A | CA378636527 | OAT | c.569A>T (p.Asp190Val) n.370A>T n.415A>T c.155A>T (p.Asp52Val) c.248A>T (p.Asp83Val) c.-32A>T (n.-32A>T) | |
10 | g.124405515T>C | CA378636531 | OAT | c.569A>G (p.Asp190Gly) n.370A>G n.415A>G c.155A>G (p.Asp52Gly) c.248A>G (p.Asp83Gly) c.-32A>G (n.-32A>G) | |
10 | g.124405515T>G | CA215250586 | OAT | c.569A>C (p.Asp190Ala) n.370A>C n.415A>C c.155A>C (p.Asp52Ala) c.248A>C (p.Asp83Ala) c.-32A>C (n.-32A>C) | dbSNP gnomAD v4 |
10 | g.124405515T= | CA1942339088 | OAT | c.569A= (p.Asp190=) n.370A= n.415A= c.155A= (p.Asp52=) c.248A= (p.Asp83=) c.-32A= (n.-32A=) | |
10 | g.124405516C>A | CA378636533 | OAT | c.568G>T (p.Asp190Tyr) n.369G>T n.414G>T c.154G>T (p.Asp52Tyr) c.247G>T (p.Asp83Tyr) c.-33G>T (n.-33G>T) | |
10 | g.124405516C>G | CA378636537 | OAT | c.568G>C (p.Asp190His) n.369G>C n.414G>C c.154G>C (p.Asp52His) c.247G>C (p.Asp83His) c.-33G>C (n.-33G>C) | |
10 | g.124405516C>T | CA378636535 | OAT | c.568G>A (p.Asp190Asn) n.369G>A n.414G>A c.154G>A (p.Asp52Asn) c.247G>A (p.Asp83Asn) c.-33G>A (n.-33G>A) | gnomAD v4 |
10 | g.124405517T>A | CA471762993 | OAT | c.567A>T (p.Thr189=) n.368A>T n.413A>T c.153A>T (p.Thr51=) c.246A>T (p.Thr82=) c.-34A>T (n.-34A>T) | |
10 | g.124405517T>C | CA471762995 | OAT | c.567A>G (p.Thr189=) n.368A>G n.413A>G c.153A>G (p.Thr51=) c.246A>G (p.Thr82=) c.-34A>G (n.-34A>G) | ClinVar dbSNP |
10 | g.124405517T>G | CA471762994 | OAT | c.567A>C (p.Thr189=) n.368A>C n.413A>C c.153A>C (p.Thr51=) c.246A>C (p.Thr82=) c.-34A>C (n.-34A>C) | |
10 | g.124405518G>A | CA5733495 | OAT | c.566C>T (p.Thr189Ile) n.367C>T n.412C>T c.152C>T (p.Thr51Ile) c.245C>T (p.Thr82Ile) c.-35C>T (n.-35C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.124405518G>C | CA378636544 | OAT | c.566C>G (p.Thr189Arg) n.367C>G n.412C>G c.152C>G (p.Thr51Arg) c.245C>G (p.Thr82Arg) c.-35C>G (n.-35C>G) | |
10 | g.124405518G= | CA1942339089 | OAT | c.566C= (p.Thr189=) n.367C= n.412C= c.152C= (p.Thr51=) c.245C= (p.Thr82=) c.-35C= (n.-35C=) | |
10 | g.124405518G>T | CA378636541 | OAT | c.566C>A (p.Thr189Lys) n.367C>A n.412C>A c.152C>A (p.Thr51Lys) c.245C>A (p.Thr82Lys) c.-35C>A (n.-35C>A) | |
10 | g.124405519T>A | CA378636547 | OAT | c.565A>T (p.Thr189Ser) n.366A>T n.411A>T c.151A>T (p.Thr51Ser) c.244A>T (p.Thr82Ser) c.-36A>T (n.-36A>T) | |
10 | g.124405519T>C | CA378636551 | OAT | c.565A>G (p.Thr189Ala) n.366A>G n.411A>G c.151A>G (p.Thr51Ala) c.244A>G (p.Thr82Ala) c.-36A>G (n.-36A>G) | ClinVar dbSNP |
10 | g.124405519T>G | CA378636548 | OAT | c.565A>C (p.Thr189Pro) n.366A>C n.411A>C c.151A>C (p.Thr51Pro) c.244A>C (p.Thr82Pro) c.-36A>C (n.-36A>C) | |
10 | g.124405519T= | CA1942339090 | OAT | c.565A= (p.Thr189=) n.366A= n.411A= c.151A= (p.Thr51=) c.244A= (p.Thr82=) c.-36A= (n.-36A=) | |
10 | g.124405520G>A | CA471762996 | OAT | c.564C>T (p.Ser188=) n.365C>T n.410C>T c.150C>T (p.Ser50=) c.243C>T (p.Ser81=) c.-37C>T (n.-37C>T) | gnomAD v4 |
10 | g.124405520G>C | CA471762997 | OAT | c.564C>G (p.Ser188=) n.365C>G n.410C>G c.150C>G (p.Ser50=) c.243C>G (p.Ser81=) c.-37C>G (n.-37C>G) | |
10 | g.124405520G>T | CA471762998 | OAT | c.564C>A (p.Ser188=) n.365C>A n.410C>A c.150C>A (p.Ser50=) c.243C>A (p.Ser81=) c.-37C>A (n.-37C>A) | |
10 | g.124405521G>A | CA378636555 | OAT | c.563C>T (p.Ser188Phe) n.364C>T n.409C>T c.149C>T (p.Ser50Phe) c.242C>T (p.Ser81Phe) c.-38C>T (n.-38C>T) | |
10 | g.124405521G>C | CA378636556 | OAT | c.563C>G (p.Ser188Cys) n.364C>G n.409C>G c.149C>G (p.Ser50Cys) c.242C>G (p.Ser81Cys) c.-38C>G (n.-38C>G) | |
10 | g.124405521G>T | CA378636558 | OAT | c.563C>A (p.Ser188Tyr) n.364C>A n.409C>A c.149C>A (p.Ser50Tyr) c.242C>A (p.Ser81Tyr) c.-38C>A (n.-38C>A) | |
10 | g.124405522A>C | CA378636560 | OAT | c.562T>G (p.Ser188Ala) n.363T>G n.408T>G c.148T>G (p.Ser50Ala) c.241T>G (p.Ser81Ala) c.-39T>G (n.-39T>G) | |
10 | g.124405522A>G | CA378636561 | OAT | c.562T>C (p.Ser188Pro) n.363T>C n.408T>C c.148T>C (p.Ser50Pro) c.241T>C (p.Ser81Pro) c.-39T>C (n.-39T>C) | |
10 | g.124405522A>T | CA378636563 | OAT | c.562T>A (p.Ser188Thr) n.363T>A n.408T>A c.148T>A (p.Ser50Thr) c.241T>A (p.Ser81Thr) c.-39T>A (n.-39T>A) | |
10 | g.124405523A= | CA1942339091 | OAT | c.561T= (p.Ser187=) n.362T= n.407T= c.147T= (p.Ser49=) c.240T= (p.Ser80=) c.-40T= (n.-40T=) | |
10 | g.124405523A>C | CA378636566 | OAT | c.561T>G (p.Ser187Arg) n.362T>G n.407T>G c.147T>G (p.Ser49Arg) c.240T>G (p.Ser80Arg) c.-40T>G (n.-40T>G) | |
10 | g.124405523A>G | CA471762999 | OAT | c.561T>C (p.Ser187=) n.362T>C n.407T>C c.147T>C (p.Ser49=) c.240T>C (p.Ser80=) c.-40T>C (n.-40T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.124405523A>T | CA378636564 | OAT | c.561T>A (p.Ser187Arg) n.362T>A n.407T>A c.147T>A (p.Ser49Arg) c.240T>A (p.Ser80Arg) c.-40T>A (n.-40T>A) | |
10 | g.124405524C>A | CA378636569 | OAT | c.560G>T (p.Ser187Ile) n.361G>T n.406G>T c.146G>T (p.Ser49Ile) c.239G>T (p.Ser80Ile) c.-41G>T (n.-41G>T) | |
10 | g.124405524C>G | CA378636570 | OAT | c.560G>C (p.Ser187Thr) n.361G>C n.406G>C c.146G>C (p.Ser49Thr) c.239G>C (p.Ser80Thr) c.-41G>C (n.-41G>C) | |
10 | g.124405524C>T | CA378636574 | OAT | c.560G>A (p.Ser187Asn) n.361G>A n.406G>A c.146G>A (p.Ser49Asn) c.239G>A (p.Ser80Asn) c.-41G>A (n.-41G>A) | |
10 | g.124405525T>A | CA378636576 | OAT | c.559A>T (p.Ser187Cys) n.360A>T n.405A>T c.145A>T (p.Ser49Cys) c.238A>T (p.Ser80Cys) c.-42A>T (n.-42A>T) | |
10 | g.124405525T>C | CA378636578 | OAT | c.559A>G (p.Ser187Gly) n.360A>G n.405A>G c.145A>G (p.Ser49Gly) c.238A>G (p.Ser80Gly) c.-42A>G (n.-42A>G) | gnomAD v4 |
10 | g.124405525T>G | CA378636580 | OAT | c.559A>C (p.Ser187Arg) n.360A>C n.405A>C c.145A>C (p.Ser49Arg) c.238A>C (p.Ser80Arg) c.-42A>C (n.-42A>C) | |
10 | g.124405526G>A | CA471763000 | OAT | c.558C>T (p.Ser186=) n.359C>T n.404C>T c.144C>T (p.Ser48=) c.237C>T (p.Ser79=) c.-43C>T (n.-43C>T) | ClinVar dbSNP |
10 | g.124405526G>C | CA471763001 | OAT | c.558C>G (p.Ser186=) n.359C>G n.404C>G c.144C>G (p.Ser48=) c.237C>G (p.Ser79=) c.-43C>G (n.-43C>G) | |
10 | g.124405526G= | CA1942339092 | OAT | c.558C= (p.Ser186=) n.359C= n.404C= c.144C= (p.Ser48=) c.237C= (p.Ser79=) c.-43C= (n.-43C=) | |
10 | g.124405526G>T | CA471763002 | OAT | c.558C>A (p.Ser186=) n.359C>A n.404C>A c.144C>A (p.Ser48=) c.237C>A (p.Ser79=) c.-43C>A (n.-43C>A) | |
10 | g.124405527G>A | CA378636582 | OAT | c.557C>T (p.Ser186Phe) n.358C>T n.403C>T c.143C>T (p.Ser48Phe) c.236C>T (p.Ser79Phe) c.-44C>T (n.-44C>T) | |
10 | g.124405527G>C | CA378636586 | OAT | c.557C>G (p.Ser186Cys) n.358C>G n.403C>G c.143C>G (p.Ser48Cys) c.236C>G (p.Ser79Cys) c.-44C>G (n.-44C>G) | |
10 | g.124405527G>T | CA378636584 | OAT | c.557C>A (p.Ser186Tyr) n.358C>A n.403C>A c.143C>A (p.Ser48Tyr) c.236C>A (p.Ser79Tyr) c.-44C>A (n.-44C>A) | |
10 | g.124405528A>C | CA378636596 | OAT | c.556T>G (p.Ser186Ala) n.357T>G n.402T>G c.142T>G (p.Ser48Ala) c.235T>G (p.Ser79Ala) c.-45T>G (n.-45T>G) | |
10 | g.124405528A>G | CA378636598 | OAT | c.556T>C (p.Ser186Pro) n.357T>C n.402T>C c.142T>C (p.Ser48Pro) c.235T>C (p.Ser79Pro) c.-45T>C (n.-45T>C) | |
10 | g.124405528A>T | CA378636601 | OAT | c.556T>A (p.Ser186Thr) n.357T>A n.402T>A c.142T>A (p.Ser48Thr) c.235T>A (p.Ser79Thr) c.-45T>A (n.-45T>A) | |
10 | g.124405529G>A | CA471763003 | OAT | c.555C>T (p.Ile185=) n.356C>T n.401C>T c.141C>T (p.Ile47=) c.234C>T (p.Ile78=) c.-46C>T (n.-46C>T) | gnomAD v4 |
10 | g.124405529G>C | CA5733496 | OAT | c.555C>G (p.Ile185Met) n.356C>G n.401C>G c.141C>G (p.Ile47Met) c.234C>G (p.Ile78Met) c.-46C>G (n.-46C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.124405529G= | CA1942339093 | OAT | c.555C= (p.Ile185=) n.356C= n.401C= c.141C= (p.Ile47=) c.234C= (p.Ile78=) c.-46C= (n.-46C=) | |
10 | g.124405529G>T | CA471763004 | OAT | c.555C>A (p.Ile185=) n.356C>A n.401C>A c.141C>A (p.Ile47=) c.234C>A (p.Ile78=) c.-46C>A (n.-46C>A) | |
10 | g.124405530A= | CA1942339094 | OAT | c.554T= (p.Ile185=) n.355T= n.400T= c.140T= (p.Ile47=) c.233T= (p.Ile78=) c.-47T= (n.-47T=) | |
10 | g.124405530A>C | CA378636611 | OAT | c.554T>G (p.Ile185Ser) n.355T>G n.400T>G c.140T>G (p.Ile47Ser) c.233T>G (p.Ile78Ser) c.-47T>G (n.-47T>G) | |
10 | g.124405530A>G | CA378636613 | OAT | c.554T>C (p.Ile185Thr) n.355T>C n.400T>C c.140T>C (p.Ile47Thr) c.233T>C (p.Ile78Thr) c.-47T>C (n.-47T>C) | |
10 | g.124405530A>T | CA378636615 | OAT | c.554T>A (p.Ile185Asn) n.355T>A n.400T>A c.140T>A (p.Ile47Asn) c.233T>A (p.Ile78Asn) c.-47T>A (n.-47T>A) | |
10 | g.124405531del | CA2611308677 | OAT | c.553del (p.Ile185SerfsTer?) n.354del n.399del c.139del (p.Ile47SerfsTer?) c.232del (p.Ile78SerfsTer?) c.-48del (n.-48del) | gnomAD v4 |
10 | g.124405531T>A | CA378636618 | OAT | c.553A>T (p.Ile185Phe) n.354A>T n.399A>T c.139A>T (p.Ile47Phe) c.232A>T (p.Ile78Phe) c.-48A>T (n.-48A>T) | |
10 | g.124405531T>C | CA5733497 | OAT | c.553A>G (p.Ile185Val) n.354A>G n.399A>G c.139A>G (p.Ile47Val) c.232A>G (p.Ile78Val) c.-48A>G (n.-48A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.124405531T>G | CA378636622 | OAT | c.553A>C (p.Ile185Leu) n.354A>C n.399A>C c.139A>C (p.Ile47Leu) c.232A>C (p.Ile78Leu) c.-48A>C (n.-48A>C) | |
10 | g.124405531T= | CA1942339095 | OAT | c.553A= (p.Ile185=) n.354A= n.399A= c.139A= (p.Ile47=) c.232A= (p.Ile78=) c.-48A= (n.-48A=) | |
10 | g.124405531dup | CA933440100 | OAT | c.553dup (p.Ile185AsnfsTer26) n.354dup n.399dup c.139dup (p.Ile47AsnfsTer26) c.232dup (p.Ile78AsnfsTer26) c.-48dup (n.-48dup) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.124405531_124405534delinsTAGC | CA1942339096 | OAT | c.550_553delinsGCTA (p.Ala184=) n.351_354delinsGCTA n.396_399delinsGCTA c.136_139delinsGCTA (p.Ala46=) c.229_232delinsGCTA (p.Ala77=) c.-51_-48delinsGCTA (n.-51_-48delinsGCTA) | |
10 | g.124405532A= | CA1942339097 | OAT | c.552T= (p.Ala184=) n.353T= n.398T= c.138T= (p.Ala46=) c.231T= (p.Ala77=) c.-49T= (n.-49T=) | |
10 | g.124405532A>C | CA471763007 | OAT | c.552T>G (p.Ala184=) n.353T>G n.398T>G c.138T>G (p.Ala46=) c.231T>G (p.Ala77=) c.-49T>G (n.-49T>G) | |
10 | g.124405532A>G | CA471763006 | OAT | c.552T>C (p.Ala184=) n.353T>C n.398T>C c.138T>C (p.Ala46=) c.231T>C (p.Ala77=) c.-49T>C (n.-49T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124405532A>T | CA471763005 | OAT | c.552T>A (p.Ala184=) n.353T>A n.398T>A c.138T>A (p.Ala46=) c.231T>A (p.Ala77=) c.-49T>A (n.-49T>A) | |
10 | g.124405532dup | CA2574709529 | OAT | c.552dup (p.Ile185TyrfsTer26) n.353dup n.398dup c.138dup (p.Ile47TyrfsTer26) c.231dup (p.Ile78TyrfsTer26) c.-49dup (n.-49dup) | |
10 | g.124405534_124405536del | CA113916 | OAT | c.550_552del (p.Ala184del) n.351_353del n.396_398del c.136_138del (p.Ala46del) c.229_231del (p.Ala77del) c.-51_-49del (n.-51_-49del) | ClinVar dbSNP |
10 | g.124405533G>A | CA378636627 | OAT | c.551C>T (p.Ala184Val) n.352C>T n.397C>T c.137C>T (p.Ala46Val) c.230C>T (p.Ala77Val) c.-50C>T (n.-50C>T) | |
10 | g.124405533G>C | CA378636630 | OAT | c.551C>G (p.Ala184Gly) n.352C>G n.397C>G c.137C>G (p.Ala46Gly) c.230C>G (p.Ala77Gly) c.-50C>G (n.-50C>G) | |
10 | g.124405533G>T | CA378636629 | OAT | c.551C>A (p.Ala184Asp) n.352C>A n.397C>A c.137C>A (p.Ala46Asp) c.230C>A (p.Ala77Asp) c.-50C>A (n.-50C>A) | |
10 | g.124405534C>A | CA378636636 | OAT | c.550G>T (p.Ala184Ser) n.351G>T n.396G>T c.136G>T (p.Ala46Ser) c.229G>T (p.Ala77Ser) c.-51G>T (n.-51G>T) | |
10 | g.124405534C= | CA1942339098 | OAT | c.550G= (p.Ala184=) n.351G= n.396G= c.136G= (p.Ala46=) c.229G= (p.Ala77=) c.-51G= (n.-51G=) | |
10 | g.124405534C>G | CA378636637 | OAT | c.550G>C (p.Ala184Pro) n.351G>C n.396G>C c.136G>C (p.Ala46Pro) c.229G>C (p.Ala77Pro) c.-51G>C (n.-51G>C) | |
10 | g.124405534C>T | CA113971 | OAT | c.550G>A (p.Ala184Thr) n.351G>A n.396G>A c.136G>A (p.Ala46Thr) c.229G>A (p.Ala77Thr) c.-51G>A (n.-51G>A) | ClinVar dbSNP gnomAD v4 |
10 | g.124405535A>C | CA471763008 | OAT | c.549T>G (p.Ser183=) n.350T>G n.395T>G c.135T>G (p.Ser45=) c.228T>G (p.Ser76=) c.-52T>G (n.-52T>G) | |
10 | g.124405535A>G | CA471763009 | OAT | c.549T>C (p.Ser183=) n.350T>C n.395T>C c.135T>C (p.Ser45=) c.228T>C (p.Ser76=) c.-52T>C (n.-52T>C) | |
10 | g.124405535A>T | CA471763010 | OAT | c.549T>A (p.Ser183=) n.350T>A n.395T>A c.135T>A (p.Ser45=) c.228T>A (p.Ser76=) c.-52T>A (n.-52T>A) | |
10 | g.124405536G>A | CA378636640 | OAT | c.548C>T (p.Ser183Phe) n.349C>T n.394C>T c.134C>T (p.Ser45Phe) c.227C>T (p.Ser76Phe) c.-53C>T (n.-53C>T) | |
10 | g.124405536G>C | CA378636643 | OAT | c.548C>G (p.Ser183Cys) n.349C>G n.394C>G c.134C>G (p.Ser45Cys) c.227C>G (p.Ser76Cys) c.-53C>G (n.-53C>G) | ClinVar dbSNP |
10 | g.124405536G>T | CA378636644 | OAT | c.548C>A (p.Ser183Tyr) n.349C>A n.394C>A c.134C>A (p.Ser45Tyr) c.227C>A (p.Ser76Tyr) c.-53C>A (n.-53C>A) | |
10 | g.124405537A>C | CA378636646 | OAT | c.547T>G (p.Ser183Ala) n.348T>G n.393T>G c.133T>G (p.Ser45Ala) c.226T>G (p.Ser76Ala) c.-54T>G (n.-54T>G) | |
10 | g.124405537A>G | CA378636647 | OAT | c.547T>C (p.Ser183Pro) n.348T>C n.393T>C c.133T>C (p.Ser45Pro) c.226T>C (p.Ser76Pro) c.-54T>C (n.-54T>C) | |
10 | g.124405537A>T | CA378636649 | OAT | c.547T>A (p.Ser183Thr) n.348T>A n.393T>A c.133T>A (p.Ser45Thr) c.226T>A (p.Ser76Thr) c.-54T>A (n.-54T>A) | |
10 | g.124405538C>A | CA5733498 | OAT | c.546G>T (p.Leu182Phe) n.347G>T n.392G>T c.132G>T (p.Leu44Phe) c.225G>T (p.Leu75Phe) c.-55G>T (n.-55G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124405538C= | CA1942339099 | OAT | c.546G= (p.Leu182=) n.347G= n.392G= c.132G= (p.Leu44=) c.225G= (p.Leu75=) c.-55G= (n.-55G=) | |
10 | g.124405538C>G | CA378636654 | OAT | c.546G>C (p.Leu182Phe) n.347G>C n.392G>C c.132G>C (p.Leu44Phe) c.225G>C (p.Leu75Phe) c.-55G>C (n.-55G>C) | |
10 | g.124405538C>T | CA471763011 | OAT | c.546G>A (p.Leu182=) n.347G>A n.392G>A c.132G>A (p.Leu44=) c.225G>A (p.Leu75=) c.-55G>A (n.-55G>A) | dbSNP |
10 | g.124405539A= | CA1942339100 | OAT | c.545T= (p.Leu182=) n.346T= n.391T= c.131T= (p.Leu44=) c.224T= (p.Leu75=) c.-56T= (n.-56T=) | |
10 | g.124405539A>C | CA378636659 | OAT | c.545T>G (p.Leu182Trp) n.346T>G n.391T>G c.131T>G (p.Leu44Trp) c.224T>G (p.Leu75Trp) c.-56T>G (n.-56T>G) | |
10 | g.124405539A>G | CA5733499 | OAT | c.545T>C (p.Leu182Ser) n.346T>C n.391T>C c.131T>C (p.Leu44Ser) c.224T>C (p.Leu75Ser) c.-56T>C (n.-56T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.124405539A>T | CA378636656 | OAT | c.545T>A (p.Leu182Ter) n.346T>A n.391T>A c.131T>A (p.Leu44Ter) c.224T>A (p.Leu75Ter) c.-56T>A (n.-56T>A) |