Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.73641079C>A | CA347286851 | NAT8 | c.550G>T (p.Ala184Ser) | |
2 | g.73641079C= | CA1261057145 | NAT8 | c.550G= (p.Ala184=) | |
2 | g.73641079C>G | CA1715665 | NAT8 | c.550G>C (p.Ala184Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73641079C>T | CA347286854 | NAT8 | c.550G>A (p.Ala184Thr) | dbSNP gnomAD v4 |
2 | g.73641079_73641081delinsCAG | CA1261057146 | NAT8 | c.548_550delinsCTG (p.Ser183=) | |
2 | g.73641080A>C | CA427024535 | NAT8 | c.549T>G (p.Ser183=) | |
2 | g.73641080A>G | CA427024537 | NAT8 | c.549T>C (p.Ser183=) | |
2 | g.73641080A>T | CA427024536 | NAT8 | c.549T>A (p.Ser183=) | |
2 | g.73641084_73641085del | CA914421980 | NAT8 | c.548_549del (p.Ser183CysfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641080_73641081insCTAAATAAATATTTGTTTCATTTGGTGGTTGTTCTTATGCAACATTATCCTGGCACTAGAAAAAT | CA2659622947 | NAT8 | c.548_549insATTTTTCTAGTGCCAGGATAATGTTGCATAAGAACAACCACCAAATGAAACAAATATTTATTTAG (p.Ala184PhefsTer3) | gnomAD v4 |
2 | g.73641081G>A | CA347286859 | NAT8 | c.548C>T (p.Ser183Phe) | |
2 | g.73641081G>C | CA347286863 | NAT8 | c.548C>G (p.Ser183Cys) | |
2 | g.73641081G>T | CA347286866 | NAT8 | c.548C>A (p.Ser183Tyr) | |
2 | g.73641082A>C | CA347286869 | NAT8 | c.547T>G (p.Ser183Ala) | |
2 | g.73641082A>G | CA347286872 | NAT8 | c.547T>C (p.Ser183Pro) | |
2 | g.73641082A>T | CA347286875 | NAT8 | c.547T>A (p.Ser183Thr) | |
2 | g.73641083G>A | CA427024544 | ALMS1P1,NAT8 | c.546C>T (p.Leu182=) n.1G>A | |
2 | g.73641083G>C | CA50371094 | ALMS1P1,NAT8 | c.546C>G (p.Leu182=) n.1G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641083G= | CA1261057147 | ALMS1P1,NAT8 | c.546C= (p.Leu182=) n.1G= | |
2 | g.73641083G>T | CA427024545 | ALMS1P1,NAT8 | c.546C>A (p.Leu182=) n.1G>T | |
2 | g.73641084A>C | CA347286879 | ALMS1P1,NAT8 | c.545T>G (p.Leu182Arg) n.2A>C | |
2 | g.73641084A>G | CA347286883 | ALMS1P1,NAT8 | c.545T>C (p.Leu182Pro) n.2A>G | |
2 | g.73641084A>T | CA347286886 | ALMS1P1,NAT8 | c.545T>A (p.Leu182His) n.2A>T | |
2 | g.73641085G>A | CA347286891 | ALMS1P1,NAT8 | c.544C>T (p.Leu182Phe) n.3G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73641085G>C | CA347286894 | ALMS1P1,NAT8 | c.544C>G (p.Leu182Val) n.3G>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73641085G= | CA1261057148 | ALMS1P1,NAT8 | c.544C= (p.Leu182=) n.3G= | |
2 | g.73641085G>T | CA347286896 | ALMS1P1,NAT8 | c.544C>A (p.Leu182Ile) n.3G>T | |
2 | g.73641086C>A | CA347286900 | ALMS1P1,NAT8 | c.543G>T (p.Gln181His) n.4C>A | |
2 | g.73641086C>G | CA347286899 | ALMS1P1,NAT8 | c.543G>C (p.Gln181His) n.4C>G | |
2 | g.73641086C>T | CA427024556 | ALMS1P1,NAT8 | c.543G>A (p.Gln181=) n.4C>T | |
2 | g.73641087T>A | CA347286901 | ALMS1P1,NAT8 | c.542A>T (p.Gln181Leu) n.5T>A | |
2 | g.73641087T>C | CA347286902 | ALMS1P1,NAT8 | c.542A>G (p.Gln181Arg) n.5T>C | |
2 | g.73641087T>G | CA347286903 | ALMS1P1,NAT8 | c.542A>C (p.Gln181Pro) n.5T>G | gnomAD v4 |
2 | g.73641088G>A | CA347286906 | ALMS1P1,NAT8 | c.541C>T (p.Gln181Ter) n.6G>A | gnomAD v4 |
2 | g.73641088G>C | CA347286907 | ALMS1P1,NAT8 | c.541C>G (p.Gln181Glu) n.6G>C | |
2 | g.73641088G>T | CA347286909 | ALMS1P1,NAT8 | c.541C>A (p.Gln181Lys) n.6G>T | |
2 | g.73641089G>A | CA427024564 | ALMS1P1,NAT8 | c.540C>T (p.Ile180=) n.7G>A | gnomAD v4 |
2 | g.73641089G>C | CA347286912 | ALMS1P1,NAT8 | c.540C>G (p.Ile180Met) n.7G>C | gnomAD v4 |
2 | g.73641089G>T | CA427024563 | ALMS1P1,NAT8 | c.540C>A (p.Ile180=) n.7G>T | |
2 | g.73641090A>C | CA347286916 | ALMS1P1,NAT8 | c.539T>G (p.Ile180Ser) n.8A>C | |
2 | g.73641090A>G | CA347286919 | ALMS1P1,NAT8 | c.539T>C (p.Ile180Thr) n.8A>G | |
2 | g.73641090A>T | CA347286921 | ALMS1P1,NAT8 | c.539T>A (p.Ile180Asn) n.8A>T | gnomAD v4 |
2 | g.73641091T>A | CA347286923 | ALMS1P1,NAT8 | c.538A>T (p.Ile180Phe) n.9T>A | |
2 | g.73641091T>C | CA347286925 | ALMS1P1,NAT8 | c.538A>G (p.Ile180Val) n.9T>C | gnomAD v4 |
2 | g.73641091T>G | CA347286928 | ALMS1P1,NAT8 | c.538A>C (p.Ile180Leu) n.9T>G | |
2 | g.73641092G>A | CA1715666 | ALMS1P1,NAT8 | c.537C>T (p.Thr179=) n.10G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73641092G>C | CA427024277 | ALMS1P1,NAT8 | c.537C>G (p.Thr179=) n.10G>C | |
2 | g.73641092G= | CA1261057149 | ALMS1P1,NAT8 | c.537C= (p.Thr179=) n.10G= | |
2 | g.73641092G>T | CA427024278 | ALMS1P1,NAT8 | c.537C>A (p.Thr179=) n.10G>T | |
2 | g.73641093G>A | CA1715667 | ALMS1P1,NAT8 | c.536C>T (p.Thr179Ile) n.11G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641093G>C | CA347286932 | ALMS1P1,NAT8 | c.536C>G (p.Thr179Ser) n.11G>C | |
2 | g.73641093G= | CA1261057150 | ALMS1P1,NAT8 | c.536C= (p.Thr179=) n.11G= | |
2 | g.73641093G>T | CA50371112 | ALMS1P1,NAT8 | c.536C>A (p.Thr179Asn) n.11G>T | dbSNP gnomAD v4 |
2 | g.73641094T>A | CA347286939 | ALMS1P1,NAT8 | c.535A>T (p.Thr179Ser) n.12T>A | |
2 | g.73641094T>C | CA347286940 | ALMS1P1,NAT8 | c.535A>G (p.Thr179Ala) n.12T>C | dbSNP |
2 | g.73641094T>G | CA347286943 | ALMS1P1,NAT8 | c.535A>C (p.Thr179Pro) n.12T>G | |
2 | g.73641094T= | CA1261057151 | ALMS1P1,NAT8 | c.535A= (p.Thr179=) n.12T= | |
2 | g.73641095G>A | CA427024282 | ALMS1P1,NAT8 | c.534C>T (p.Gly178=) n.13G>A | gnomAD v4 |
2 | g.73641095G>C | CA427024284 | ALMS1P1,NAT8 | c.534C>G (p.Gly178=) n.13G>C | |
2 | g.73641095G>T | CA427024285 | ALMS1P1,NAT8 | c.534C>A (p.Gly178=) n.13G>T | |
2 | g.73641096C>A | CA347286947 | ALMS1P1,NAT8 | c.533G>T (p.Gly178Val) n.14C>A | |
2 | g.73641096C= | CA1261057152 | ALMS1P1,NAT8 | c.533G= (p.Gly178=) n.14C= | |
2 | g.73641096C>G | CA347286951 | ALMS1P1,NAT8 | c.533G>C (p.Gly178Ala) n.14C>G | |
2 | g.73641096C>T | CA1715668 | ALMS1P1,NAT8 | c.533G>A (p.Gly178Asp) n.14C>T | dbSNP ExAC gnomAD v2 |
2 | g.73641097C>A | CA1715670 | ALMS1P1,NAT8 | c.532G>T (p.Gly178Cys) n.15C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73641097C= | CA1261057153 | ALMS1P1,NAT8 | c.532G= (p.Gly178=) n.15C= | |
2 | g.73641097C>G | CA1715669 | ALMS1P1,NAT8 | c.532G>C (p.Gly178Arg) n.15C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73641097C>T | CA50371141 | ALMS1P1,NAT8 | c.532G>A (p.Gly178Ser) n.15C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641098G>A | CA1715671 | ALMS1P1,NAT8 | c.531C>T (p.Thr177=) n.16G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641098G>C | CA427024288 | ALMS1P1,NAT8 | c.531C>G (p.Thr177=) n.16G>C | |
2 | g.73641098G= | CA1261057154 | ALMS1P1,NAT8 | c.531C= (p.Thr177=) n.16G= | |
2 | g.73641098G>T | CA427024289 | ALMS1P1,NAT8 | c.531C>A (p.Thr177=) n.16G>T | |
2 | g.73641099G>A | CA1715672 | ALMS1P1,NAT8 | c.530C>T (p.Thr177Ile) n.17G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641099G>C | CA347286963 | ALMS1P1,NAT8 | c.530C>G (p.Thr177Ser) n.17G>C | |
2 | g.73641099G= | CA1261057155 | ALMS1P1,NAT8 | c.530C= (p.Thr177=) n.17G= | |
2 | g.73641099G>T | CA347286964 | ALMS1P1,NAT8 | c.530C>A (p.Thr177Asn) n.17G>T | |
2 | g.73641100T>A | CA347286966 | ALMS1P1,NAT8 | c.529A>T (p.Thr177Ser) n.18T>A | |
2 | g.73641100T>C | CA347286969 | ALMS1P1,NAT8 | c.529A>G (p.Thr177Ala) n.18T>C | |
2 | g.73641100T>G | CA1715673 | ALMS1P1,NAT8 | c.529A>C (p.Thr177Pro) n.18T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73641100T= | CA1261057156 | ALMS1P1,NAT8 | c.529A= (p.Thr177=) n.18T= | |
2 | g.73641101del | CA2659622948 | ALMS1P1,NAT8 | c.528del (p.Asp176GlufsTer?) n.19del | gnomAD v4 |
2 | g.73641101G>A | CA427024293 | ALMS1P1,NAT8 | c.528C>T (p.Asp176=) n.19G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641101G>C | CA347286972 | ALMS1P1,NAT8 | c.528C>G (p.Asp176Glu) n.19G>C | |
2 | g.73641101G= | CA1261057157 | ALMS1P1,NAT8 | c.528C= (p.Asp176=) n.19G= | |
2 | g.73641101G>T | CA347286975 | ALMS1P1,NAT8 | c.528C>A (p.Asp176Glu) n.19G>T | |
2 | g.73641102T>A | CA347286979 | ALMS1P1,NAT8 | c.527A>T (p.Asp176Val) n.20T>A | |
2 | g.73641102T>C | CA50371148 | ALMS1P1,NAT8 | c.527A>G (p.Asp176Gly) n.20T>C | ClinVar dbSNP gnomAD v4 |
2 | g.73641102T>G | CA347286984 | ALMS1P1,NAT8 | c.527A>C (p.Asp176Ala) n.20T>G | |
2 | g.73641102T= | CA1261057158 | ALMS1P1,NAT8 | c.527A= (p.Asp176=) n.20T= | |
2 | g.73641103C>A | CA347286987 | ALMS1P1,NAT8 | c.526G>T (p.Asp176Tyr) n.21C>A | |
2 | g.73641103C>G | CA347286990 | ALMS1P1,NAT8 | c.526G>C (p.Asp176His) n.21C>G | |
2 | g.73641103C>T | CA347286992 | ALMS1P1,NAT8 | c.526G>A (p.Asp176Asn) n.21C>T | |
2 | g.73641104C>A | CA427024298 | ALMS1P1,NAT8 | c.525G>T (p.Leu175=) n.22C>A | |
2 | g.73641104C>G | CA427024299 | ALMS1P1,NAT8 | c.525G>C (p.Leu175=) n.22C>G | |
2 | g.73641104C>T | CA427024300 | ALMS1P1,NAT8 | c.525G>A (p.Leu175=) n.22C>T | gnomAD v4 |
2 | g.73641105A>C | CA347286995 | ALMS1P1,NAT8 | c.524T>G (p.Leu175Arg) n.23A>C | |
2 | g.73641105A>G | CA347286996 | ALMS1P1,NAT8 | c.524T>C (p.Leu175Pro) n.23A>G | |
2 | g.73641105A>T | CA347286998 | ALMS1P1,NAT8 | c.524T>A (p.Leu175Gln) n.23A>T | |
2 | g.73641106G>A | CA427024304 | ALMS1P1,NAT8 | c.523C>T (p.Leu175=) n.24G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73641106G>C | CA347287002 | ALMS1P1,NAT8 | c.523C>G (p.Leu175Val) n.24G>C | gnomAD v4 |
2 | g.73641106G= | CA1261057159 | ALMS1P1,NAT8 | c.523C= (p.Leu175=) n.24G= | |
2 | g.73641106G>T | CA347287001 | ALMS1P1,NAT8 | c.523C>A (p.Leu175Met) n.24G>T | |
2 | g.73641107G>A | CA427024305 | ALMS1P1,NAT8 | c.522C>T (p.Ile174=) n.25G>A | |
2 | g.73641107G>C | CA347287005 | ALMS1P1,NAT8 | c.522C>G (p.Ile174Met) n.25G>C | |
2 | g.73641107G>T | CA427024306 | ALMS1P1,NAT8 | c.522C>A (p.Ile174=) n.25G>T | |
2 | g.73641108A= | CA1261057160 | ALMS1P1,NAT8 | c.521T= (p.Ile174=) n.26A= | |
2 | g.73641108A>C | CA347287007 | ALMS1P1,NAT8 | c.521T>G (p.Ile174Ser) n.26A>C | |
2 | g.73641108A>G | CA1715674 | ALMS1P1,NAT8 | c.521T>C (p.Ile174Thr) n.26A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641108A>T | CA347287009 | ALMS1P1,NAT8 | c.521T>A (p.Ile174Asn) n.26A>T | |
2 | g.73641109T>A | CA347287011 | ALMS1P1,NAT8 | c.520A>T (p.Ile174Phe) n.27T>A | gnomAD v4 |
2 | g.73641109T>C | CA1715675 | ALMS1P1,NAT8 | c.520A>G (p.Ile174Val) n.27T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641109T>G | CA347287013 | ALMS1P1,NAT8 | c.520A>C (p.Ile174Leu) n.27T>G | dbSNP |
2 | g.73641109T= | CA1261057161 | ALMS1P1,NAT8 | c.520A= (p.Ile174=) n.27T= | |
2 | g.73641110A>C | CA427024313 | ALMS1P1,NAT8 | c.519T>G (p.Val173=) n.28A>C | |
2 | g.73641110A>G | CA427024311 | ALMS1P1,NAT8 | c.519T>C (p.Val173=) n.28A>G | |
2 | g.73641110A>T | CA427024312 | ALMS1P1,NAT8 | c.519T>A (p.Val173=) n.28A>T | |
2 | g.73641111A>C | CA347287016 | ALMS1P1,NAT8 | c.518T>G (p.Val173Gly) n.29A>C | |
2 | g.73641111A>G | CA347287014 | ALMS1P1,NAT8 | c.518T>C (p.Val173Ala) n.29A>G | |
2 | g.73641111A>T | CA347287015 | ALMS1P1,NAT8 | c.518T>A (p.Val173Asp) n.29A>T | |
2 | g.73641112C>A | CA347287018 | ALMS1P1,NAT8 | c.517G>T (p.Val173Phe) n.30C>A | |
2 | g.73641112C= | CA1261057162 | ALMS1P1,NAT8 | c.517G= (p.Val173=) n.30C= | |
2 | g.73641112C>G | CA347287020 | ALMS1P1,NAT8 | c.517G>C (p.Val173Leu) n.30C>G | dbSNP |
2 | g.73641112C>T | CA347287021 | ALMS1P1,NAT8 | c.517G>A (p.Val173Ile) n.30C>T | |
2 | g.73641113T>A | CA347287022 | ALMS1P1,NAT8 | c.516A>T (p.Glu172Asp) n.31T>A | |
2 | g.73641113T>C | CA427024322 | ALMS1P1,NAT8 | c.516A>G (p.Glu172=) n.31T>C | |
2 | g.73641113T>G | CA347287024 | ALMS1P1,NAT8 | c.516A>C (p.Glu172Asp) n.31T>G | |
2 | g.73641114T>A | CA347287027 | ALMS1P1,NAT8 | c.515A>T (p.Glu172Val) n.32T>A | |
2 | g.73641114T>C | CA347287030 | ALMS1P1,NAT8 | c.515A>G (p.Glu172Gly) n.32T>C | |
2 | g.73641114T>G | CA347287028 | ALMS1P1,NAT8 | c.515A>C (p.Glu172Ala) n.32T>G | |
2 | g.73641115C>A | CA1715676 | ALMS1P1,NAT8 | c.514G>T (p.Glu172Ter) n.33C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641115C= | CA1261057163 | ALMS1P1,NAT8 | c.514G= (p.Glu172=) n.33C= | |
2 | g.73641115C>G | CA347287033 | ALMS1P1,NAT8 | c.514G>C (p.Glu172Gln) n.33C>G | |
2 | g.73641115C>T | CA347287034 | ALMS1P1,NAT8 | c.514G>A (p.Glu172Lys) n.33C>T | dbSNP |
2 | g.73641116A>C | CA347287036 | ALMS1P1,NAT8 | c.513T>G (p.Ser171Arg) n.34A>C | |
2 | g.73641116A>G | CA427024328 | ALMS1P1,NAT8 | c.513T>C (p.Ser171=) n.34A>G | |
2 | g.73641116A>T | CA347287037 | ALMS1P1,NAT8 | c.513T>A (p.Ser171Arg) n.34A>T | |
2 | g.73641117C>A | CA347287038 | ALMS1P1,NAT8 | c.512G>T (p.Ser171Ile) n.35C>A | |
2 | g.73641117C= | CA1261057164 | ALMS1P1,NAT8 | c.512G= (p.Ser171=) n.35C= | |
2 | g.73641117C>G | CA347287039 | ALMS1P1,NAT8 | c.512G>C (p.Ser171Thr) n.35C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641117C>T | CA347287040 | ALMS1P1,NAT8 | c.512G>A (p.Ser171Asn) n.35C>T | gnomAD v4 |
2 | g.73641118T>A | CA347287043 | ALMS1P1,NAT8 | c.511A>T (p.Ser171Cys) n.36T>A | |
2 | g.73641118T>C | CA347287044 | ALMS1P1,NAT8 | c.511A>G (p.Ser171Gly) n.36T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641118T>G | CA347287046 | ALMS1P1,NAT8 | c.511A>C (p.Ser171Arg) n.36T>G | |
2 | g.73641118T= | CA1261057165 | ALMS1P1,NAT8 | c.511A= (p.Ser171=) n.36T= | |
2 | g.73641119G>A | CA1715677 | ALMS1P1,NAT8 | c.510C>T (p.Tyr170=) n.37G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641119G>C | CA347287049 | ALMS1P1,NAT8 | c.510C>G (p.Tyr170Ter) n.37G>C | |
2 | g.73641119G= | CA1261057166 | ALMS1P1,NAT8 | c.510C= (p.Tyr170=) n.37G= | |
2 | g.73641119G>T | CA347287047 | ALMS1P1,NAT8 | c.510C>A (p.Tyr170Ter) n.37G>T | |
2 | g.73641120T>A | CA347287052 | ALMS1P1,NAT8 | c.509A>T (p.Tyr170Phe) n.38T>A | |
2 | g.73641120T>C | CA347287054 | ALMS1P1,NAT8 | c.509A>G (p.Tyr170Cys) n.38T>C | |
2 | g.73641120T>G | CA347287053 | ALMS1P1,NAT8 | c.509A>C (p.Tyr170Ser) n.38T>G | |
2 | g.73641121A= | CA1261057167 | ALMS1P1,NAT8 | c.508T= (p.Tyr170=) n.39A= | |
2 | g.73641121A>C | CA347287057 | ALMS1P1,NAT8 | c.508T>G (p.Tyr170Asp) n.39A>C | |
2 | g.73641121A>G | CA347287058 | ALMS1P1,NAT8 | c.508T>C (p.Tyr170His) n.39A>G | dbSNP |
2 | g.73641121A>T | CA347287060 | ALMS1P1,NAT8 | c.508T>A (p.Tyr170Asn) n.39A>T | |
2 | g.73641122G>A | CA427024335 | ALMS1P1,NAT8 | c.507C>T (p.Gly169=) n.40G>A | gnomAD v4 COSMIC |
2 | g.73641122G>C | CA427024336 | ALMS1P1,NAT8 | c.507C>G (p.Gly169=) n.40G>C | |
2 | g.73641122G= | CA1261057168 | ALMS1P1,NAT8 | c.507C= (p.Gly169=) n.40G= | |
2 | g.73641122G>T | CA1715678 | ALMS1P1,NAT8 | c.507C>A (p.Gly169=) n.40G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73641123C>A | CA347287063 | ALMS1P1,NAT8 | c.506G>T (p.Gly169Val) n.41C>A | dbSNP |
2 | g.73641123C= | CA1261057169 | ALMS1P1,NAT8 | c.506G= (p.Gly169=) n.41C= | |
2 | g.73641123C>G | CA347287065 | ALMS1P1,NAT8 | c.506G>C (p.Gly169Ala) n.41C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73641123C>T | CA1715679 | ALMS1P1,NAT8 | c.506G>A (p.Gly169Asp) n.41C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73641124C>A | CA347287072 | ALMS1P1,NAT8 | c.505G>T (p.Gly169Cys) n.42C>A | |
2 | g.73641124C>G | CA347287069 | ALMS1P1,NAT8 | c.505G>C (p.Gly169Arg) n.42C>G | |
2 | g.73641124C>T | CA347287070 | ALMS1P1,NAT8 | c.505G>A (p.Gly169Ser) n.42C>T | |
2 | g.73641125C>A | CA347287074 | ALMS1P1,NAT8 | c.504G>T (p.Gln168His) n.43C>A | |
2 | g.73641125C>G | CA347287076 | ALMS1P1,NAT8 | c.504G>C (p.Gln168His) n.43C>G | |
2 | g.73641125C>T | CA427024341 | ALMS1P1,NAT8 | c.504G>A (p.Gln168=) n.43C>T | |
2 | g.73641126T>A | CA347287079 | ALMS1P1,NAT8 | c.503A>T (p.Gln168Leu) n.44T>A | |
2 | g.73641126T>C | CA347287081 | ALMS1P1,NAT8 | c.503A>G (p.Gln168Arg) n.44T>C | |
2 | g.73641126T>G | CA347287082 | ALMS1P1,NAT8 | c.503A>C (p.Gln168Pro) n.44T>G | |
2 | g.73641127G>A | CA50371195 | ALMS1P1,NAT8 | c.502C>T (p.Gln168Ter) n.45G>A | dbSNP gnomAD v4 |
2 | g.73641127G>C | CA347287085 | ALMS1P1,NAT8 | c.502C>G (p.Gln168Glu) n.45G>C | |
2 | g.73641127G= | CA1261057170 | ALMS1P1,NAT8 | c.502C= (p.Gln168=) n.45G= | |
2 | g.73641127G>T | CA347287084 | ALMS1P1,NAT8 | c.502C>A (p.Gln168Lys) n.45G>T | |
2 | g.73641128G>A | CA427024348 | ALMS1P1,NAT8 | c.501C>T (p.Asp167=) n.46G>A | |
2 | g.73641128G>C | CA347287087 | ALMS1P1,NAT8 | c.501C>G (p.Asp167Glu) n.46G>C | |
2 | g.73641128G>T | CA347287088 | ALMS1P1,NAT8 | c.501C>A (p.Asp167Glu) n.46G>T | |
2 | g.73641129T>A | CA347287091 | ALMS1P1,NAT8 | c.500A>T (p.Asp167Val) n.47T>A | |
2 | g.73641129T>C | CA347287092 | ALMS1P1,NAT8 | c.500A>G (p.Asp167Gly) n.47T>C | gnomAD v4 |
2 | g.73641129T>G | CA347287094 | ALMS1P1,NAT8 | c.500A>C (p.Asp167Ala) n.47T>G | |
2 | g.73641130C>A | CA347287096 | ALMS1P1,NAT8 | c.499G>T (p.Asp167Tyr) n.48C>A | |
2 | g.73641130C>G | CA347287098 | ALMS1P1,NAT8 | c.499G>C (p.Asp167His) n.48C>G | |
2 | g.73641130C>T | CA347287099 | ALMS1P1,NAT8 | c.499G>A (p.Asp167Asn) n.48C>T | gnomAD v4 |
2 | g.73641131C>A | CA427024352 | ALMS1P1,NAT8 | c.498G>T (p.Arg166=) n.49C>A | |
2 | g.73641131C>G | CA427024353 | ALMS1P1,NAT8 | c.498G>C (p.Arg166=) n.49C>G | |
2 | g.73641131C>T | CA427024354 | ALMS1P1,NAT8 | c.498G>A (p.Arg166=) n.49C>T | |
2 | g.73641132C>A | CA347287102 | ALMS1P1,NAT8 | c.497G>T (p.Arg166Leu) n.50C>A | |
2 | g.73641132C= | CA1261057171 | ALMS1P1,NAT8 | c.497G= (p.Arg166=) n.50C= | |
2 | g.73641132C>G | CA347287104 | ALMS1P1,NAT8 | c.497G>C (p.Arg166Pro) n.50C>G | gnomAD v4 |
2 | g.73641132C>T | CA1715680 | ALMS1P1,NAT8 | c.497G>A (p.Arg166Gln) n.50C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.73641133G>A | CA1715682 | ALMS1P1,NAT8 | c.496C>T (p.Arg166Trp) n.51G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.73641133G>C | CA347287107 | ALMS1P1,NAT8 | c.496C>G (p.Arg166Gly) n.51G>C | |
2 | g.73641133G= | CA1261057172 | ALMS1P1,NAT8 | c.496C= (p.Arg166=) n.51G= | |
2 | g.73641133G>T | CA1715681 | ALMS1P1,NAT8 | c.496C>A (p.Arg166=) n.51G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73641134G>A | CA427024362 | ALMS1P1,NAT8 | c.495C>T (p.Ala165=) n.52G>A | |
2 | g.73641134G>C | CA427024363 | ALMS1P1,NAT8 | c.495C>G (p.Ala165=) n.52G>C | |
2 | g.73641134G>T | CA427024364 | ALMS1P1,NAT8 | c.495C>A (p.Ala165=) n.52G>T | |
2 | g.73641135G>A | CA1715683 | ALMS1P1,NAT8 | c.494C>T (p.Ala165Val) n.53G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.73641135G>C | CA347287113 | ALMS1P1,NAT8 | c.494C>G (p.Ala165Gly) n.53G>C | |
2 | g.73641135G= | CA1261057173 | ALMS1P1,NAT8 | c.494C= (p.Ala165=) n.53G= | |
2 | g.73641135G>T | CA347287115 | ALMS1P1,NAT8 | c.494C>A (p.Ala165Asp) n.53G>T | gnomAD v4 |
2 | g.73641136C>A | CA1715684 | ALMS1P1,NAT8 | c.493G>T (p.Ala165Ser) n.54C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641136C= | CA1261057174 | ALMS1P1,NAT8 | c.493G= (p.Ala165=) n.54C= | |
2 | g.73641136C>G | CA347287117 | ALMS1P1,NAT8 | c.493G>C (p.Ala165Pro) n.54C>G | |
2 | g.73641136C>T | CA347287119 | ALMS1P1,NAT8 | c.493G>A (p.Ala165Thr) n.54C>T | COSMIC |
2 | g.73641137A>C | CA347287120 | ALMS1P1,NAT8 | c.492T>G (p.Phe164Leu) n.55A>C | |
2 | g.73641137A>G | CA427024371 | ALMS1P1,NAT8 | c.492T>C (p.Phe164=) n.55A>G | |
2 | g.73641137A>T | CA347287122 | ALMS1P1,NAT8 | c.492T>A (p.Phe164Leu) n.55A>T | |
2 | g.73641138A>C | CA347287124 | ALMS1P1,NAT8 | c.491T>G (p.Phe164Cys) n.56A>C | |
2 | g.73641138A>G | CA347287126 | ALMS1P1,NAT8 | c.491T>C (p.Phe164Ser) n.56A>G | |
2 | g.73641138A>T | CA347287128 | ALMS1P1,NAT8 | c.491T>A (p.Phe164Tyr) n.56A>T | |
2 | g.73641139A>C | CA347287130 | ALMS1P1,NAT8 | c.490T>G (p.Phe164Val) n.57A>C | |
2 | g.73641139A>G | CA347287131 | ALMS1P1,NAT8 | c.490T>C (p.Phe164Leu) n.57A>G | |
2 | g.73641139A>T | CA347287133 | ALMS1P1,NAT8 | c.490T>A (p.Phe164Ile) n.57A>T | |
2 | g.73641140C>A | CA347287135 | ALMS1P1,NAT8 | c.489G>T (p.Gln163His) n.58C>A | gnomAD v4 |
2 | g.73641140C>G | CA347287136 | ALMS1P1,NAT8 | c.489G>C (p.Gln163His) n.58C>G | |
2 | g.73641140C>T | CA427024379 | ALMS1P1,NAT8 | c.489G>A (p.Gln163=) n.58C>T | |
2 | g.73641141T>A | CA347287137 | ALMS1P1,NAT8 | c.488A>T (p.Gln163Leu) n.59T>A | |
2 | g.73641141T>C | CA347287139 | ALMS1P1,NAT8 | c.488A>G (p.Gln163Arg) n.59T>C | |
2 | g.73641141T>G | CA1715685 | ALMS1P1,NAT8 | c.488A>C (p.Gln163Pro) n.59T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73641141T= | CA1261057175 | ALMS1P1,NAT8 | c.488A= (p.Gln163=) n.59T= | |
2 | g.73641141_73641142del | CA2577005390 | ALMS1P1,NAT8 | c.487_488del (p.Gln163ValfsTer9) n.59_60del | gnomAD v4 |
2 | g.73641142G>A | CA347287142 | ALMS1P1,NAT8 | c.487C>T (p.Gln163Ter) n.60G>A | dbSNP gnomAD v4 |
2 | g.73641142G>C | CA347287144 | ALMS1P1,NAT8 | c.487C>G (p.Gln163Glu) n.60G>C | |
2 | g.73641142G= | CA1261057176 | ALMS1P1,NAT8 | c.487C= (p.Gln163=) n.60G= | |
2 | g.73641142G>T | CA347287146 | ALMS1P1,NAT8 | c.487C>A (p.Gln163Lys) n.60G>T | |
2 | g.73641142_73641146dup | CA534125777 | ALMS1P1,NAT8 | c.483_487dup (p.Gln163ProfsTer?) n.60_64dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641143G>A | CA427024388 | ALMS1P1,NAT8 | c.486C>T (p.Leu162=) n.61G>A | |
2 | g.73641143G>C | CA427024390 | ALMS1P1,NAT8 | c.486C>G (p.Leu162=) n.61G>C | |
2 | g.73641143G>T | CA427024389 | ALMS1P1,NAT8 | c.486C>A (p.Leu162=) n.61G>T | |
2 | g.73641144A>C | CA347287148 | ALMS1P1,NAT8 | c.485T>G (p.Leu162Arg) n.62A>C | |
2 | g.73641144A>G | CA347287150 | ALMS1P1,NAT8 | c.485T>C (p.Leu162Pro) n.62A>G | |
2 | g.73641144A>T | CA347287152 | ALMS1P1,NAT8 | c.485T>A (p.Leu162His) n.62A>T | |
2 | g.73641145G>A | CA347287154 | ALMS1P1,NAT8 | c.484C>T (p.Leu162Phe) n.63G>A | gnomAD v4 |
2 | g.73641145G>C | CA347287156 | ALMS1P1,NAT8 | c.484C>G (p.Leu162Val) n.63G>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73641145G= | CA1261057177 | ALMS1P1,NAT8 | c.484C= (p.Leu162=) n.63G= | |
2 | g.73641145G>T | CA347287157 | ALMS1P1,NAT8 | c.484C>A (p.Leu162Ile) n.63G>T | COSMIC |
2 | g.73641146G>A | CA427024396 | ALMS1P1,NAT8 | c.483C>T (p.Val161=) n.64G>A | |
2 | g.73641146G>C | CA427024397 | ALMS1P1,NAT8 | c.483C>G (p.Val161=) n.64G>C | |
2 | g.73641146G>T | CA427024398 | ALMS1P1,NAT8 | c.483C>A (p.Val161=) n.64G>T | |
2 | g.73641147A= | CA1261057178 | ALMS1P1,NAT8 | c.482T= (p.Val161=) n.65A= | |
2 | g.73641147A>C | CA347287160 | ALMS1P1,NAT8 | c.482T>G (p.Val161Gly) n.65A>C | |
2 | g.73641147A>G | CA347287163 | ALMS1P1,NAT8 | c.482T>C (p.Val161Ala) n.65A>G | dbSNP |
2 | g.73641147A>T | CA347287162 | ALMS1P1,NAT8 | c.482T>A (p.Val161Asp) n.65A>T | |
2 | g.73641148C>A | CA347287165 | ALMS1P1,NAT8 | c.481G>T (p.Val161Phe) n.66C>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73641148C= | CA1261057179 | ALMS1P1,NAT8 | c.481G= (p.Val161=) n.66C= | |
2 | g.73641148C>G | CA347287167 | ALMS1P1,NAT8 | c.481G>C (p.Val161Leu) n.66C>G | |
2 | g.73641148C>T | CA347287166 | ALMS1P1,NAT8 | c.481G>A (p.Val161Ile) n.66C>T | gnomAD v4 |
2 | g.73641149A= | CA1261057180 | ALMS1P1,NAT8 | c.480T= (p.Thr160=) n.67A= | |
2 | g.73641149A>C | CA427024407 | ALMS1P1,NAT8 | c.480T>G (p.Thr160=) n.67A>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73641149A>G | CA427024408 | ALMS1P1,NAT8 | c.480T>C (p.Thr160=) n.67A>G | |
2 | g.73641149A>T | CA427024409 | ALMS1P1,NAT8 | c.480T>A (p.Thr160=) n.67A>T | |
2 | g.73641150G>A | CA347287170 | ALMS1P1,NAT8 | c.479C>T (p.Thr160Ile) n.68G>A | COSMIC |
2 | g.73641150G>C | CA347287171 | ALMS1P1,NAT8 | c.479C>G (p.Thr160Ser) n.68G>C | |
2 | g.73641150G= | CA1261057181 | ALMS1P1,NAT8 | c.479C= (p.Thr160=) n.68G= | |
2 | g.73641150G>T | CA1715686 | ALMS1P1,NAT8 | c.479C>A (p.Thr160Asn) n.68G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.73641151T>A | CA347287175 | ALMS1P1,NAT8 | c.478A>T (p.Thr160Ser) n.69T>A | |
2 | g.73641151T>C | CA347287176 | ALMS1P1,NAT8 | c.478A>G (p.Thr160Ala) n.69T>C | |
2 | g.73641151T>G | CA347287178 | ALMS1P1,NAT8 | c.478A>C (p.Thr160Pro) n.69T>G | |
2 | g.73641152C>A | CA1715687 | ALMS1P1,NAT8 | c.477G>T (p.Arg159Ser) n.70C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641152C= | CA1261057182 | ALMS1P1,NAT8 | c.477G= (p.Arg159=) n.70C= | |
2 | g.73641152C>G | CA347287181 | ALMS1P1,NAT8 | c.477G>C (p.Arg159Ser) n.70C>G | |
2 | g.73641152C>T | CA427024413 | ALMS1P1,NAT8 | c.477G>A (p.Arg159=) n.70C>T | |
2 | g.73641153C>A | CA347287182 | ALMS1P1,NAT8 | c.476G>T (p.Arg159Met) n.71C>A | |
2 | g.73641153C>G | CA347287184 | ALMS1P1,NAT8 | c.476G>C (p.Arg159Thr) n.71C>G | gnomAD v4 |
2 | g.73641153C>T | CA347287186 | ALMS1P1,NAT8 | c.476G>A (p.Arg159Lys) n.71C>T | |
2 | g.73641154T>A | CA347287190 | ALMS1P1,NAT8 | c.475A>T (p.Arg159Trp) n.72T>A | |
2 | g.73641154T>C | CA347287188 | ALMS1P1,NAT8 | c.475A>G (p.Arg159Gly) n.72T>C | |
2 | g.73641154T>G | CA427024421 | ALMS1P1,NAT8 | c.475A>C (p.Arg159=) n.72T>G | gnomAD v4 |
2 | g.73641155G>A | CA1715689 | ALMS1P1,NAT8 | c.474C>T (p.Val158=) n.73G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73641155G>C | CA1715688 | ALMS1P1,NAT8 | c.474C>G (p.Val158=) n.73G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641155G= | CA1261057183 | ALMS1P1,NAT8 | c.474C= (p.Val158=) n.73G= | |
2 | g.73641155G>T | CA427024422 | ALMS1P1,NAT8 | c.474C>A (p.Val158=) n.73G>T | dbSNP gnomAD v4 |
2 | g.73641156A>C | CA347287193 | ALMS1P1,NAT8 | c.473T>G (p.Val158Gly) n.74A>C | |
2 | g.73641156A>G | CA347287194 | ALMS1P1,NAT8 | c.473T>C (p.Val158Ala) n.74A>G | gnomAD v4 |
2 | g.73641156A>T | CA347287195 | ALMS1P1,NAT8 | c.473T>A (p.Val158Asp) n.74A>T | |
2 | g.73641157C>A | CA347287198 | ALMS1P1,NAT8 | c.472G>T (p.Val158Phe) n.75C>A | |
2 | g.73641157C= | CA1261057184 | ALMS1P1,NAT8 | c.472G= (p.Val158=) n.75C= | |
2 | g.73641157C>G | CA347287199 | ALMS1P1,NAT8 | c.472G>C (p.Val158Leu) n.75C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73641157C>T | CA347287200 | ALMS1P1,NAT8 | c.472G>A (p.Val158Ile) n.75C>T | |
2 | g.73641158C>A | CA427024429 | ALMS1P1,NAT8 | c.471G>T (p.Leu157=) n.76C>A | |
2 | g.73641158C= | CA1261057185 | ALMS1P1,NAT8 | c.471G= (p.Leu157=) n.76C= | |
2 | g.73641158C>G | CA1715690 | ALMS1P1,NAT8 | c.471G>C (p.Leu157=) n.76C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641158C>T | CA427024428 | ALMS1P1,NAT8 | c.471G>A (p.Leu157=) n.76C>T | |
2 | g.73641158_73641159insTTCTGTC | CA2659622949 | ALMS1P1,NAT8 | c.471_472insACAGAAG (p.Val158ThrfsTer17) n.76_77insTTCTGTC | gnomAD v4 |
2 | g.73641159A>C | CA347287204 | ALMS1P1,NAT8 | c.470T>G (p.Leu157Arg) n.77A>C | |
2 | g.73641159A>G | CA347287205 | ALMS1P1,NAT8 | c.470T>C (p.Leu157Pro) n.77A>G | |
2 | g.73641159A>T | CA347287208 | ALMS1P1,NAT8 | c.470T>A (p.Leu157Gln) n.77A>T | |
2 | g.73641160G>A | CA427024434 | ALMS1P1,NAT8 | c.469C>T (p.Leu157=) n.78G>A | |
2 | g.73641160G>C | CA347287211 | ALMS1P1,NAT8 | c.469C>G (p.Leu157Val) n.78G>C | |
2 | g.73641160G>T | CA347287209 | ALMS1P1,NAT8 | c.469C>A (p.Leu157Met) n.78G>T | |
2 | g.73641160_73641161insCTTCTGTCAGGGCACCCAGACTTTTTGATACCCA | CA2659622950 | ALMS1P1,NAT8 | c.468_469insTGGGTATCAAAAAGTCTGGGTGCCCTGACAGAAG (p.Leu157TrpfsTer27) n.78_79insCTTCTGTCAGGGCACCCAGACTTTTTGATACCCA | gnomAD v4 |
2 | g.73641161G>A | CA427024439 | ALMS1P1,NAT8 | c.468C>T (p.Ala156=) n.79G>A | dbSNP gnomAD v4 COSMIC |
2 | g.73641161G>C | CA427024445 | ALMS1P1,NAT8 | c.468C>G (p.Ala156=) n.79G>C | |
2 | g.73641161G= | CA1261057186 | ALMS1P1,NAT8 | c.468C= (p.Ala156=) n.79G= | |
2 | g.73641161G>T | CA427024446 | ALMS1P1,NAT8 | c.468C>A (p.Ala156=) n.79G>T | dbSNP |
2 | g.73641162G>A | CA347287214 | ALMS1P1,NAT8 | c.467C>T (p.Ala156Val) n.80G>A | |
2 | g.73641162G>C | CA347287215 | ALMS1P1,NAT8 | c.467C>G (p.Ala156Gly) n.80G>C | |
2 | g.73641162G>T | CA347287217 | ALMS1P1,NAT8 | c.467C>A (p.Ala156Asp) n.80G>T | |
2 | g.73641163C>A | CA1715691 | ALMS1P1,NAT8 | c.466G>T (p.Ala156Ser) n.81C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641163C= | CA1261057187 | ALMS1P1,NAT8 | c.466G= (p.Ala156=) n.81C= | |
2 | g.73641163C>G | CA347287220 | ALMS1P1,NAT8 | c.466G>C (p.Ala156Pro) n.81C>G | |
2 | g.73641163C>T | CA347287222 | ALMS1P1,NAT8 | c.466G>A (p.Ala156Thr) n.81C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73641164T>A | CA50371264 | ALMS1P1,NAT8 | c.465A>T (p.Lys155Asn) n.82T>A | dbSNP |
2 | g.73641164T>C | CA427024452 | ALMS1P1,NAT8 | c.465A>G (p.Lys155=) n.82T>C | |
2 | g.73641164T>G | CA347287225 | ALMS1P1,NAT8 | c.465A>C (p.Lys155Asn) n.82T>G | |
2 | g.73641164T= | CA1261057188 | ALMS1P1,NAT8 | c.465A= (p.Lys155=) n.82T= | |
2 | g.73641165T>A | CA347287228 | ALMS1P1,NAT8 | c.464A>T (p.Lys155Ile) n.83T>A | |
2 | g.73641165T>C | CA347287230 | ALMS1P1,NAT8 | c.464A>G (p.Lys155Arg) n.83T>C | |
2 | g.73641165T>G | CA347287231 | ALMS1P1,NAT8 | c.464A>C (p.Lys155Thr) n.83T>G | |
2 | g.73641166T>A | CA347287234 | ALMS1P1,NAT8 | c.463A>T (p.Lys155Ter) n.84T>A | gnomAD v4 |
2 | g.73641166T>C | CA1715692 | ALMS1P1,NAT8 | c.463A>G (p.Lys155Glu) n.84T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641166T>G | CA347287236 | ALMS1P1,NAT8 | c.463A>C (p.Lys155Gln) n.84T>G | |
2 | g.73641166T= | CA1261057189 | ALMS1P1,NAT8 | c.463A= (p.Lys155=) n.84T= | |
2 | g.73641167T>A | CA427024465 | ALMS1P1,NAT8 | c.462A>T (p.Ala154=) n.85T>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73641167T>C | CA427024466 | ALMS1P1,NAT8 | c.462A>G (p.Ala154=) n.85T>C | |
2 | g.73641167T>G | CA427024467 | ALMS1P1,NAT8 | c.462A>C (p.Ala154=) n.85T>G | |
2 | g.73641167T= | CA1261057190 | ALMS1P1,NAT8 | c.462A= (p.Ala154=) n.85T= | |
2 | g.73641168G>A | CA347287238 | ALMS1P1,NAT8 | c.461C>T (p.Ala154Val) n.86G>A | |
2 | g.73641168G>C | CA347287240 | ALMS1P1,NAT8 | c.461C>G (p.Ala154Gly) n.86G>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73641168G= | CA1261057191 | ALMS1P1,NAT8 | c.461C= (p.Ala154=) n.86G= | |
2 | g.73641168G>T | CA347287239 | ALMS1P1,NAT8 | c.461C>A (p.Ala154Glu) n.86G>T | |
2 | g.73641169C>A | CA347287243 | ALMS1P1,NAT8 | c.460G>T (p.Ala154Ser) n.87C>A | |
2 | g.73641169C>G | CA347287245 | ALMS1P1,NAT8 | c.460G>C (p.Ala154Pro) n.87C>G | |
2 | g.73641169C>T | CA347287247 | ALMS1P1,NAT8 | c.460G>A (p.Ala154Thr) n.87C>T | |
2 | g.73641170T>A | CA427024477 | ALMS1P1,NAT8 | c.459A>T (p.Ile153=) n.88T>A | |
2 | g.73641170T>C | CA347287249 | ALMS1P1,NAT8 | c.459A>G (p.Ile153Met) n.88T>C | gnomAD v4 |
2 | g.73641170T>G | CA427024475 | ALMS1P1,NAT8 | c.459A>C (p.Ile153=) n.88T>G | |
2 | g.73641171A= | CA1261057192 | ALMS1P1,NAT8 | c.458T= (p.Ile153=) n.89A= | |
2 | g.73641171A>C | CA347287251 | ALMS1P1,NAT8 | c.458T>G (p.Ile153Arg) n.89A>C | |
2 | g.73641171A>G | CA1715693 | ALMS1P1,NAT8 | c.458T>C (p.Ile153Thr) n.89A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641171A>T | CA347287254 | ALMS1P1,NAT8 | c.458T>A (p.Ile153Lys) n.89A>T | |
2 | g.73641172T>A | CA347287255 | ALMS1P1,NAT8 | c.457A>T (p.Ile153Leu) n.90T>A | |
2 | g.73641172T>C | CA1715695 | ALMS1P1,NAT8 | c.457A>G (p.Ile153Val) n.90T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73641172T>G | CA1715694 | ALMS1P1,NAT8 | c.457A>C (p.Ile153Leu) n.90T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641172T= | CA1261057193 | ALMS1P1,NAT8 | c.457A= (p.Ile153=) n.90T= | |
2 | g.73641173C>A | CA1715696 | ALMS1P1,NAT8 | c.456G>T (p.Gly152=) n.91C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73641173C= | CA1261057194 | ALMS1P1,NAT8 | c.456G= (p.Gly152=) n.91C= | |
2 | g.73641173C>G | CA427024479 | ALMS1P1,NAT8 | c.456G>C (p.Gly152=) n.91C>G | |
2 | g.73641173C>T | CA427024483 | ALMS1P1,NAT8 | c.456G>A (p.Gly152=) n.91C>T | dbSNP gnomAD v4 |
2 | g.73641174C>A | CA347287260 | ALMS1P1,NAT8 | c.455G>T (p.Gly152Val) n.92C>A | |
2 | g.73641174C= | CA1261057195 | ALMS1P1,NAT8 | c.455G= (p.Gly152=) n.92C= | |
2 | g.73641174C>G | CA347287262 | ALMS1P1,NAT8 | c.455G>C (p.Gly152Ala) n.92C>G | |
2 | g.73641174C>T | CA347287259 | ALMS1P1,NAT8 | c.455G>A (p.Gly152Glu) n.92C>T | dbSNP |
2 | g.73641175C>A | CA347287265 | ALMS1P1,NAT8 | c.454G>T (p.Gly152Trp) n.93C>A | |
2 | g.73641175C= | CA1261057196 | ALMS1P1,NAT8 | c.454G= (p.Gly152=) n.93C= | |
2 | g.73641175C>G | CA347287264 | ALMS1P1,NAT8 | c.454G>C (p.Gly152Arg) n.93C>G | dbSNP gnomAD v2 |
2 | g.73641175C>T | CA347287267 | ALMS1P1,NAT8 | c.454G>A (p.Gly152Arg) n.93C>T | |
2 | g.73641176C>A | CA347287270 | ALMS1P1,NAT8 | c.453G>T (p.Gln151His) n.94C>A | |
2 | g.73641176C= | CA1261057197 | ALMS1P1,NAT8 | c.453G= (p.Gln151=) n.94C= | |
2 | g.73641176C>G | CA347287271 | ALMS1P1,NAT8 | c.453G>C (p.Gln151His) n.94C>G | |
2 | g.73641176C>T | CA427024490 | ALMS1P1,NAT8 | c.453G>A (p.Gln151=) n.94C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641177T>A | CA347287272 | ALMS1P1,NAT8 | c.452A>T (p.Gln151Leu) n.95T>A | |
2 | g.73641177T>C | CA347287274 | ALMS1P1,NAT8 | c.452A>G (p.Gln151Arg) n.95T>C | |
2 | g.73641177T>G | CA347287276 | ALMS1P1,NAT8 | c.452A>C (p.Gln151Pro) n.95T>G | |
2 | g.73641178G>A | CA347287277 | ALMS1P1,NAT8 | c.451C>T (p.Gln151Ter) n.96G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73641178G>C | CA347287279 | ALMS1P1,NAT8 | c.451C>G (p.Gln151Glu) n.96G>C | |
2 | g.73641178G= | CA1261057198 | ALMS1P1,NAT8 | c.451C= (p.Gln151=) n.96G= | |
2 | g.73641178G>T | CA347287280 | ALMS1P1,NAT8 | c.451C>A (p.Gln151Lys) n.96G>T | |
2 | g.73641179A>C | CA427024496 | ALMS1P1,NAT8 | c.450T>G (p.Arg150=) n.97A>C | |
2 | g.73641179A>G | CA427024497 | ALMS1P1,NAT8 | c.450T>C (p.Arg150=) n.97A>G | |
2 | g.73641179A>T | CA427024498 | ALMS1P1,NAT8 | c.450T>A (p.Arg150=) n.97A>T |