| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.19964280_19964281delinsA | CA322121254 | COMT | c.596_597delinsA (p.Pro199GlnfsTer23) c.446_447delinsA (p.Pro149GlnfsTer23) c.710_711delinsA (p.Pro237GlnfsTer30) c.710_711delinsA (p.Pro237GlnfsTer23) c.596_597delinsA (p.Pro199GlnfsTer30) c.1007_1008delinsA (p.Pro336GlnfsTer23) c.*54_*55delinsA (p.=) c.596_597delinsA (p.Pro199GlnfsTer8) n.174_175delinsA n.334_335delinsA | dbSNP |
| 22 | g.19964280_19964281delinsT | CA920337049 | COMT | c.596_597delinsT (p.Pro199LeufsTer23) c.446_447delinsT (p.Pro149LeufsTer23) c.710_711delinsT (p.Pro237LeufsTer30) c.710_711delinsT (p.Pro237LeufsTer23) c.596_597delinsT (p.Pro199LeufsTer30) c.1007_1008delinsT (p.Pro336LeufsTer23) c.*54_*55delinsT (p.=) c.596_597delinsT (p.Pro199LeufsTer8) n.174_175delinsT n.334_335delinsT | dbSNP |
| 22 | g.19964281G>A | CA10104650 | COMT | c.597G>A (p.Pro199=) c.447G>A (p.Pro149=) c.711G>A (p.Pro237=) c.1008G>A (p.Pro336=) c.*55G>A (p.=) n.175G>A n.335G>A | ClinVar dbSNP ExAC gnomAD |
| 22 | g.19964281G>C | CA513688531 | COMT | c.597G>C (p.Pro199=) c.447G>C (p.Pro149=) c.711G>C (p.Pro237=) c.1008G>C (p.Pro336=) c.*55G>C (p.=) n.175G>C n.335G>C | |
| 22 | g.19964281G>T | CA513688530 | COMT | c.597G>T (p.Pro199=) c.447G>T (p.Pro149=) c.711G>T (p.Pro237=) c.1008G>T (p.Pro336=) c.*55G>T (p.=) n.175G>T n.335G>T | |
| 22 | g.19964281del | CA920337050 | COMT | c.597del (p.Asp200ThrfsTer22) c.447del (p.Asp150ThrfsTer22) c.711del (p.Asp238ThrfsTer29) c.711del (p.Asp238ThrfsTer22) c.597del (p.Asp200ThrfsTer29) c.1008del (p.Asp337ThrfsTer22) c.*55del (p.=) c.597del (p.Asp200ThrfsTer7) n.175del n.335del | dbSNP |
| 22 | g.19964282G>A | CA410689883 | COMT | c.598G>A (p.Asp200Asn) c.448G>A (p.Asp150Asn) c.712G>A (p.Asp238Asn) c.1009G>A (p.Asp337Asn) c.*56G>A (p.=) n.176G>A n.336G>A | |
| 22 | g.19964282G>C | CA410689881 | COMT | c.598G>C (p.Asp200His) c.448G>C (p.Asp150His) c.712G>C (p.Asp238His) c.1009G>C (p.Asp337His) c.*56G>C (p.=) n.176G>C n.336G>C | gnomAD |
| 22 | g.19964282G>T | CA410689882 | COMT | c.598G>T (p.Asp200Tyr) c.448G>T (p.Asp150Tyr) c.712G>T (p.Asp238Tyr) c.1009G>T (p.Asp337Tyr) c.*56G>T (p.=) n.176G>T n.336G>T | |
| 22 | g.19964283A>C | CA410689884 | COMT | c.599A>C (p.Asp200Ala) c.449A>C (p.Asp150Ala) c.713A>C (p.Asp238Ala) c.1010A>C (p.Asp337Ala) c.*57A>C (p.=) n.177A>C n.337A>C | |
| 22 | g.19964283A>G | CA410689885 | COMT | c.599A>G (p.Asp200Gly) c.449A>G (p.Asp150Gly) c.713A>G (p.Asp238Gly) c.1010A>G (p.Asp337Gly) c.*57A>G (p.=) n.177A>G n.337A>G | |
| 22 | g.19964283A>T | CA410689886 | COMT | c.599A>T (p.Asp200Val) c.449A>T (p.Asp150Val) c.713A>T (p.Asp238Val) c.1010A>T (p.Asp337Val) c.*57A>T (p.=) n.177A>T n.337A>T | |
| 22 | g.19964284C>A | CA410689887 | COMT | c.600C>A (p.Asp200Glu) c.450C>A (p.Asp150Glu) c.714C>A (p.Asp238Glu) c.1011C>A (p.Asp337Glu) c.*58C>A (p.=) n.178C>A n.338C>A | |
| 22 | g.19964284C>G | CA410689888 | COMT | c.600C>G (p.Asp200Glu) c.450C>G (p.Asp150Glu) c.714C>G (p.Asp238Glu) c.1011C>G (p.Asp337Glu) c.*58C>G (p.=) n.178C>G n.338C>G | |
| 22 | g.19964284C>T | CA513688532 | COMT | c.600C>T (p.Asp200=) c.450C>T (p.Asp150=) c.714C>T (p.Asp238=) c.1011C>T (p.Asp337=) c.*58C>T (p.=) n.178C>T n.338C>T | |
| 22 | g.19964285A>C | CA410689889 | COMT | c.601A>C (p.Thr201Pro) c.451A>C (p.Thr151Pro) c.715A>C (p.Thr239Pro) c.1012A>C (p.Thr338Pro) c.*59A>C (p.=) n.179A>C n.339A>C | |
| 22 | g.19964285A>G | CA410689891 | COMT | c.601A>G (p.Thr201Ala) c.451A>G (p.Thr151Ala) c.715A>G (p.Thr239Ala) c.1012A>G (p.Thr338Ala) c.*59A>G (p.=) n.179A>G n.339A>G | |
| 22 | g.19964285A>T | CA410689890 | COMT | c.601A>T (p.Thr201Ser) c.451A>T (p.Thr151Ser) c.715A>T (p.Thr239Ser) c.1012A>T (p.Thr338Ser) c.*59A>T (p.=) n.179A>T n.339A>T | |
| 22 | g.19964286C>A | CA410689892 | COMT | c.602C>A (p.Thr201Lys) c.452C>A (p.Thr151Lys) c.716C>A (p.Thr239Lys) c.1013C>A (p.Thr338Lys) c.*60C>A (p.=) n.180C>A n.340C>A | |
| 22 | g.19964286C>G | CA410689893 | COMT | c.602C>G (p.Thr201Arg) c.452C>G (p.Thr151Arg) c.716C>G (p.Thr239Arg) c.1013C>G (p.Thr338Arg) c.*60C>G (p.=) n.180C>G n.340C>G | |
| 22 | g.19964286C>T | CA10104651 | COMT | c.602C>T (p.Thr201Met) c.452C>T (p.Thr151Met) c.716C>T (p.Thr239Met) c.1013C>T (p.Thr338Met) c.*60C>T (p.=) n.180C>T n.340C>T | dbSNP ExAC gnomAD |
| 22 | g.19964287G>A | CA10104653 | COMT | c.603G>A (p.Thr201=) c.453G>A (p.Thr151=) c.717G>A (p.Thr239=) c.1014G>A (p.Thr338=) c.*61G>A (p.=) n.181G>A n.341G>A | dbSNP ExAC gnomAD |
| 22 | g.19964287G>C | CA513688533 | COMT | c.603G>C (p.Thr201=) c.453G>C (p.Thr151=) c.717G>C (p.Thr239=) c.1014G>C (p.Thr338=) c.*61G>C (p.=) n.181G>C n.341G>C | |
| 22 | g.19964287G>T | CA10104652 | COMT | c.603G>T (p.Thr201=) c.453G>T (p.Thr151=) c.717G>T (p.Thr239=) c.1014G>T (p.Thr338=) c.*61G>T (p.=) n.181G>T n.341G>T | dbSNP ExAC gnomAD |
| 22 | g.19964288C>A | CA10104654 | COMT | c.604C>A (p.Leu202Ile) c.454C>A (p.Leu152Ile) c.718C>A (p.Leu240Ile) c.1015C>A (p.Leu339Ile) c.*62C>A (p.=) n.182C>A n.342C>A | dbSNP ExAC gnomAD |
| 22 | g.19964288C>G | CA410689894 | COMT | c.604C>G (p.Leu202Val) c.454C>G (p.Leu152Val) c.718C>G (p.Leu240Val) c.1015C>G (p.Leu339Val) c.*62C>G (p.=) n.182C>G n.342C>G | |
| 22 | g.19964288C>T | CA410689895 | COMT | c.604C>T (p.Leu202Phe) c.454C>T (p.Leu152Phe) c.718C>T (p.Leu240Phe) c.1015C>T (p.Leu339Phe) c.*62C>T (p.=) n.182C>T n.342C>T | |
| 22 | g.19964289T>A | CA10104655 | COMT | c.605T>A (p.Leu202His) c.455T>A (p.Leu152His) c.719T>A (p.Leu240His) c.1016T>A (p.Leu339His) c.*63T>A (p.=) n.183T>A n.343T>A | dbSNP ExAC gnomAD |
| 22 | g.19964289T>C | CA10104656 | COMT | c.605T>C (p.Leu202Pro) c.455T>C (p.Leu152Pro) c.719T>C (p.Leu240Pro) c.1016T>C (p.Leu339Pro) c.*63T>C (p.=) n.183T>C n.343T>C | dbSNP ExAC gnomAD |
| 22 | g.19964289T>G | CA410689896 | COMT | c.605T>G (p.Leu202Arg) c.455T>G (p.Leu152Arg) c.719T>G (p.Leu240Arg) c.1016T>G (p.Leu339Arg) c.*63T>G (p.=) n.183T>G n.343T>G | |
| 22 | g.19964290T>A | CA513688535 | COMT | c.606T>A (p.Leu202=) c.456T>A (p.Leu152=) c.720T>A (p.Leu240=) c.1017T>A (p.Leu339=) c.*64T>A (p.=) n.184T>A n.344T>A | |
| 22 | g.19964290T>C | CA513688534 | COMT | c.606T>C (p.Leu202=) c.456T>C (p.Leu152=) c.720T>C (p.Leu240=) c.1017T>C (p.Leu339=) c.*64T>C (p.=) n.184T>C n.344T>C | |
| 22 | g.19964290T>G | CA513688536 | COMT | c.606T>G (p.Leu202=) c.456T>G (p.Leu152=) c.720T>G (p.Leu240=) c.1017T>G (p.Leu339=) c.*64T>G (p.=) n.184T>G n.344T>G | |
| 22 | g.19964291C>A | CA410689899 | COMT | c.607C>A (p.Leu203Ile) c.457C>A (p.Leu153Ile) c.721C>A (p.Leu241Ile) c.1018C>A (p.Leu340Ile) c.*65C>A (p.=) n.185C>A n.345C>A | |
| 22 | g.19964291C>G | CA410689898 | COMT | c.607C>G (p.Leu203Val) c.457C>G (p.Leu153Val) c.721C>G (p.Leu241Val) c.1018C>G (p.Leu340Val) c.*65C>G (p.=) n.185C>G n.345C>G | |
| 22 | g.19964291C>T | CA410689897 | COMT | c.607C>T (p.Leu203Phe) c.457C>T (p.Leu153Phe) c.721C>T (p.Leu241Phe) c.1018C>T (p.Leu340Phe) c.*65C>T (p.=) n.185C>T n.345C>T | |
| 22 | g.19964292T>A | CA410689900 | COMT | c.608T>A (p.Leu203His) c.458T>A (p.Leu153His) c.722T>A (p.Leu241His) c.1019T>A (p.Leu340His) c.*66T>A (p.=) n.186T>A n.346T>A | |
| 22 | g.19964292T>C | CA410689901 | COMT | c.608T>C (p.Leu203Pro) c.458T>C (p.Leu153Pro) c.722T>C (p.Leu241Pro) c.1019T>C (p.Leu340Pro) c.*66T>C (p.=) n.186T>C n.346T>C | |
| 22 | g.19964292T>G | CA410689902 | COMT | c.608T>G (p.Leu203Arg) c.458T>G (p.Leu153Arg) c.722T>G (p.Leu241Arg) c.1019T>G (p.Leu340Arg) c.*66T>G (p.=) n.186T>G n.346T>G | |
| 22 | g.19964293C>A | CA513688538 | COMT | c.609C>A (p.Leu203=) c.459C>A (p.Leu153=) c.723C>A (p.Leu241=) c.1020C>A (p.Leu340=) c.*67C>A (p.=) n.187C>A n.347C>A | |
| 22 | g.19964293C>G | CA513688537 | COMT | c.609C>G (p.Leu203=) c.459C>G (p.Leu153=) c.723C>G (p.Leu241=) c.1020C>G (p.Leu340=) c.*67C>G (p.=) n.187C>G n.347C>G | |
| 22 | g.19964293C>T | CA10104657 | COMT | c.609C>T (p.Leu203=) c.459C>T (p.Leu153=) c.723C>T (p.Leu241=) c.1020C>T (p.Leu340=) c.*67C>T (p.=) n.187C>T n.347C>T | dbSNP ExAC gnomAD |
| 22 | g.19964294T>A | CA410689903 | COMT | c.610T>A (p.Leu204Met) c.460T>A (p.Leu154Met) c.724T>A (p.Leu242Met) c.1021T>A (p.Leu341Met) c.*68T>A (p.=) n.188T>A n.348T>A | |
| 22 | g.19964294T>C | CA513688539 | COMT | c.610T>C (p.Leu204=) c.460T>C (p.Leu154=) c.724T>C (p.Leu242=) c.1021T>C (p.Leu341=) c.*68T>C (p.=) n.188T>C n.348T>C | |
| 22 | g.19964294T>G | CA410689904 | COMT | c.610T>G (p.Leu204Val) c.460T>G (p.Leu154Val) c.724T>G (p.Leu242Val) c.1021T>G (p.Leu341Val) c.*68T>G (p.=) n.188T>G n.348T>G | |
| 22 | g.19964295T>A | CA410689907 | COMT | c.611T>A (p.Leu204Ter) c.461T>A (p.Leu154Ter) c.725T>A (p.Leu242Ter) c.1022T>A (p.Leu341Ter) c.*69T>A (p.=) n.189T>A n.349T>A | |
| 22 | g.19964295T>C | CA410689905 | COMT | c.611T>C (p.Leu204Ser) c.461T>C (p.Leu154Ser) c.725T>C (p.Leu242Ser) c.1022T>C (p.Leu341Ser) c.*69T>C (p.=) n.189T>C n.349T>C | |
| 22 | g.19964295T>G | CA410689906 | COMT | c.611T>G (p.Leu204Trp) c.461T>G (p.Leu154Trp) c.725T>G (p.Leu242Trp) c.1022T>G (p.Leu341Trp) c.*69T>G (p.=) n.189T>G n.349T>G | gnomAD |
| 22 | g.19964296G>A | CA513688540 | COMT | c.612G>A (p.Leu204=) c.462G>A (p.Leu154=) c.726G>A (p.Leu242=) c.1023G>A (p.Leu341=) c.*70G>A (p.=) n.190G>A n.350G>A | |
| 22 | g.19964296G>C | CA10104658 | COMT | c.612G>C (p.Leu204Phe) c.462G>C (p.Leu154Phe) c.726G>C (p.Leu242Phe) c.1023G>C (p.Leu341Phe) c.*70G>C (p.=) n.190G>C n.350G>C | dbSNP ExAC gnomAD |