Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.78586644_78586647delinsGGAT | CA2189588852 | CHRNA5 | c.259-1_261delinsGGAT c.74-1_76delinsGGAT c.256-1_258delinsGGAT | |
15 | g.78586647_78586649del | CA2189588858 | CHRNA5 | c.261_263del (p.Asp87del) c.76_78del c.258_260del (p.Asp86del) | dbSNP |
15 | g.78586646del | CA2629785714 | CHRNA5 | c.260del (p.Asp87ValfsTer6) c.75del c.257del (p.Asp86ValfsTer6) | gnomAD v4 |
15 | g.78586646A>C | CA393575624 | CHRNA5 | c.260A>C (p.Asp87Ala) c.75A>C c.257A>C (p.Asp86Ala) | |
15 | g.78586646A>G | CA393575625 | CHRNA5 | c.260A>G (p.Asp87Gly) c.75A>G c.257A>G (p.Asp86Gly) | gnomAD v4 |
15 | g.78586646A>T | CA393575626 | CHRNA5 | c.260A>T (p.Asp87Val) c.75A>T c.257A>T (p.Asp86Val) | |
15 | g.78586647T>A | CA393575627 | CHRNA5 | c.261T>A (p.Asp87Glu) c.76T>A c.258T>A (p.Asp86Glu) | |
15 | g.78586647T>C | CA491615612 | CHRNA5 | c.261T>C (p.Asp87=) c.76T>C c.258T>C (p.Asp86=) | |
15 | g.78586647T>G | CA393575628 | CHRNA5 | c.261T>G (p.Asp87Glu) c.76T>G c.258T>G (p.Asp86Glu) | gnomAD v4 |
15 | g.78586648G>A | CA393575629 | CHRNA5 | c.262G>A (p.Glu88Lys) c.77G>A c.259G>A (p.Glu87Lys) | COSMIC |
15 | g.78586648G>C | CA393575630 | CHRNA5 | c.262G>C (p.Glu88Gln) c.77G>C c.259G>C (p.Glu87Gln) | |
15 | g.78586648G>T | CA393575631 | CHRNA5 | c.262G>T (p.Glu88Ter) c.77G>T c.259G>T (p.Glu87Ter) | gnomAD v4 |
15 | g.78586649A>C | CA393575633 | CHRNA5 | c.263A>C (p.Glu88Ala) c.78A>C c.260A>C (p.Glu87Ala) | |
15 | g.78586649A>G | CA393575634 | CHRNA5 | c.263A>G (p.Glu88Gly) c.78A>G c.260A>G (p.Glu87Gly) | gnomAD v4 |
15 | g.78586649A>T | CA393575632 | CHRNA5 | c.263A>T (p.Glu88Val) c.78A>T c.260A>T (p.Glu87Val) | |
15 | g.78586650G>A | CA491615619 | CHRNA5 | c.264G>A (p.Glu88=) c.79G>A c.261G>A (p.Glu87=) | gnomAD v4 |
15 | g.78586650G>C | CA393575635 | CHRNA5 | c.264G>C (p.Glu88Asp) c.79G>C c.261G>C (p.Glu87Asp) | gnomAD v4 |
15 | g.78586650G>T | CA393575636 | CHRNA5 | c.264G>T (p.Glu88Asp) c.79G>T c.261G>T (p.Glu87Asp) | |
15 | g.78586651A>C | CA393575637 | CHRNA5 | c.265A>C (p.Lys89Gln) c.80A>C c.262A>C (p.Lys88Gln) | |
15 | g.78586651A>G | CA393575638 | CHRNA5 | c.265A>G (p.Lys89Glu) c.80A>G c.262A>G (p.Lys88Glu) | gnomAD v4 |
15 | g.78586651A>T | CA393575639 | CHRNA5 | c.265A>T (p.Lys89Ter) c.80A>T c.262A>T (p.Lys88Ter) | |
15 | g.78586655del | CA2629785740 | CHRNA5 | c.269del (p.Asn90IlefsTer3) c.84del c.266del (p.Asn89IlefsTer3) | gnomAD v4 |
15 | g.78586652A>C | CA393575640 | CHRNA5 | c.266A>C (p.Lys89Thr) c.81A>C c.263A>C (p.Lys88Thr) | |
15 | g.78586652A>G | CA393575641 | CHRNA5 | c.266A>G (p.Lys89Arg) c.81A>G c.263A>G (p.Lys88Arg) | |
15 | g.78586652A>T | CA393575642 | CHRNA5 | c.266A>T (p.Lys89Ile) c.81A>T c.263A>T (p.Lys88Ile) | |
15 | g.78586653A>C | CA393575643 | CHRNA5 | c.267A>C (p.Lys89Asn) c.82A>C c.264A>C (p.Lys88Asn) | |
15 | g.78586653A>G | CA491615623 | CHRNA5 | c.267A>G (p.Lys89=) c.82A>G c.264A>G (p.Lys88=) | gnomAD v4 |
15 | g.78586653A>T | CA393575644 | CHRNA5 | c.267A>T (p.Lys89Asn) c.82A>T c.264A>T (p.Lys88Asn) | |
15 | g.78586654A>C | CA393575645 | CHRNA5 | c.268A>C (p.Asn90His) c.83A>C c.265A>C (p.Asn89His) | |
15 | g.78586654A>G | CA393575646 | CHRNA5 | c.268A>G (p.Asn90Asp) c.83A>G c.265A>G (p.Asn89Asp) | gnomAD v4 |
15 | g.78586654A>T | CA393575647 | CHRNA5 | c.268A>T (p.Asn90Tyr) c.83A>T c.265A>T (p.Asn89Tyr) | |
15 | g.78586655A>C | CA393575648 | CHRNA5 | c.269A>C (p.Asn90Thr) c.84A>C c.266A>C (p.Asn89Thr) | |
15 | g.78586655A>G | CA393575650 | CHRNA5 | c.269A>G (p.Asn90Ser) c.84A>G c.266A>G (p.Asn89Ser) | |
15 | g.78586655A>T | CA393575649 | CHRNA5 | c.269A>T (p.Asn90Ile) c.84A>T c.266A>T (p.Asn89Ile) | |
15 | g.78586656T>A | CA393575651 | CHRNA5 | c.270T>A (p.Asn90Lys) c.85T>A c.267T>A (p.Asn89Lys) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.78586656T>C | CA491615626 | CHRNA5 | c.270T>C (p.Asn90=) c.85T>C c.267T>C (p.Asn89=) | |
15 | g.78586656T>G | CA393575652 | CHRNA5 | c.270T>G (p.Asn90Lys) c.85T>G c.267T>G (p.Asn89Lys) | gnomAD v4 |
15 | g.78586656T= | CA2189588861 | CHRNA5 | c.270T= (p.Asn90=) c.85T= c.267T= (p.Asn89=) | |
15 | g.78586657C>A | CA393575653 | CHRNA5 | c.271C>A (p.Gln91Lys) c.86C>A c.268C>A (p.Gln90Lys) | gnomAD v4 |
15 | g.78586657C>G | CA393575654 | CHRNA5 | c.271C>G (p.Gln91Glu) c.86C>G c.268C>G (p.Gln90Glu) | |
15 | g.78586657C>T | CA393575655 | CHRNA5 | c.271C>T (p.Gln91Ter) c.86C>T c.268C>T (p.Gln90Ter) | gnomAD v4 |
15 | g.78586657_78586661delinsCAGTT | CA2189588865 | CHRNA5 | c.271_275delinsCAGTT (p.Gln91=) c.86_90delinsCAGTT c.268_272delinsCAGTT (p.Gln90=) | |
15 | g.78586658A>C | CA393575656 | CHRNA5 | c.272A>C (p.Gln91Pro) c.87A>C c.269A>C (p.Gln90Pro) | |
15 | g.78586658A>G | CA393575657 | CHRNA5 | c.272A>G (p.Gln91Arg) c.87A>G c.269A>G (p.Gln90Arg) | gnomAD v4 |
15 | g.78586658A>T | CA393575658 | CHRNA5 | c.272A>T (p.Gln91Leu) c.87A>T c.269A>T (p.Gln90Leu) | |
15 | g.78586659_78586662del | CA7683966 | CHRNA5 | c.273_276del (p.Leu92Ter) c.88_91del c.270_273del (p.Leu91Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.78586659G>A | CA491615630 | CHRNA5 | c.273G>A (p.Gln91=) c.88G>A c.270G>A (p.Gln90=) | |
15 | g.78586659G>C | CA393575659 | CHRNA5 | c.273G>C (p.Gln91His) c.88G>C c.270G>C (p.Gln90His) | gnomAD v4 |
15 | g.78586659G>T | CA393575660 | CHRNA5 | c.273G>T (p.Gln91His) c.88G>T c.270G>T (p.Gln90His) | gnomAD v4 |
15 | g.78586660T>A | CA393575662 | CHRNA5 | c.274T>A (p.Leu92Ile) c.89T>A c.271T>A (p.Leu91Ile) | |
15 | g.78586660T>C | CA491615631 | CHRNA5 | c.274T>C (p.Leu92=) c.89T>C c.271T>C (p.Leu91=) | |
15 | g.78586660T>G | CA393575661 | CHRNA5 | c.274T>G (p.Leu92Val) c.89T>G c.271T>G (p.Leu91Val) | |
15 | g.78586661T>A | CA393575663 | CHRNA5 | c.275T>A (p.Leu92Ter) c.90T>A c.272T>A (p.Leu91Ter) | |
15 | g.78586661T>C | CA393575665 | CHRNA5 | c.275T>C (p.Leu92Ser) c.90T>C c.272T>C (p.Leu91Ser) | gnomAD v4 |
15 | g.78586661T>G | CA393575664 | CHRNA5 | c.275T>G (p.Leu92Ter) c.90T>G c.272T>G (p.Leu91Ter) | |
15 | g.78586662A>C | CA393575666 | CHRNA5 | c.276A>C (p.Leu92Phe) c.91A>C c.273A>C (p.Leu91Phe) | |
15 | g.78586662A>G | CA491615632 | CHRNA5 | c.276A>G (p.Leu92=) c.91A>G c.273A>G (p.Leu91=) | |
15 | g.78586662A>T | CA393575667 | CHRNA5 | c.276A>T (p.Leu92Phe) c.91A>T c.273A>T (p.Leu91Phe) | |
15 | g.78586662_78586663del | CA645586447 | CHRNA5 | c.276_277del (p.Leu92PhefsTer21) c.91_92del c.273_274del (p.Leu91PhefsTer21) | COSMIC |
15 | g.78586663A= | CA2189588872 | CHRNA5 | c.277A= (p.Met93=) c.92A= c.274A= (p.Met92=) | |
15 | g.78586663A>C | CA393575668 | CHRNA5 | c.277A>C (p.Met93Leu) c.92A>C c.274A>C (p.Met92Leu) | dbSNP |
15 | g.78586663A>G | CA393575669 | CHRNA5 | c.277A>G (p.Met93Val) c.92A>G c.274A>G (p.Met92Val) | gnomAD v4 |
15 | g.78586663A>T | CA393575670 | CHRNA5 | c.277A>T (p.Met93Leu) c.92A>T c.274A>T (p.Met92Leu) | |
15 | g.78586664T>A | CA273893070 | CHRNA5 | c.278T>A (p.Met93Lys) c.93T>A c.275T>A (p.Met92Lys) | dbSNP gnomAD v4 |
15 | g.78586664T>C | CA393575671 | CHRNA5 | c.278T>C (p.Met93Thr) c.93T>C c.275T>C (p.Met92Thr) | |
15 | g.78586664T>G | CA393575672 | CHRNA5 | c.278T>G (p.Met93Arg) c.93T>G c.275T>G (p.Met92Arg) | gnomAD v4 |
15 | g.78586664T= | CA2189588875 | CHRNA5 | c.278T= (p.Met93=) c.93T= c.275T= (p.Met92=) | |
15 | g.78586665G>A | CA393575673 | CHRNA5 | c.279G>A (p.Met93Ile) c.94G>A c.276G>A (p.Met92Ile) | |
15 | g.78586665G>C | CA393575674 | CHRNA5 | c.279G>C (p.Met93Ile) c.94G>C c.276G>C (p.Met92Ile) | |
15 | g.78586665G>T | CA393575675 | CHRNA5 | c.279G>T (p.Met93Ile) c.94G>T c.276G>T (p.Met92Ile) | gnomAD v4 |
15 | g.78586665_78586666delinsGA | CA2189588879 | CHRNA5 | c.279_280delinsGA (p.Met93=) c.94_95delinsGA c.276_277delinsGA (p.Met92=) | |
15 | g.78586666del | CA619234154 | CHRNA5 | c.280del (p.Thr94GlnfsTer6) c.95del c.277del (p.Thr93GlnfsTer6) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.78586666A>C | CA393575676 | CHRNA5 | c.280A>C (p.Thr94Pro) c.95A>C c.277A>C (p.Thr93Pro) | |
15 | g.78586666A>G | CA393575677 | CHRNA5 | c.280A>G (p.Thr94Ala) c.95A>G c.277A>G (p.Thr93Ala) | |
15 | g.78586666A>T | CA393575678 | CHRNA5 | c.280A>T (p.Thr94Ser) c.95A>T c.277A>T (p.Thr93Ser) | |
15 | g.78586667C>A | CA7683967 | CHRNA5 | c.281C>A (p.Thr94Lys) c.96C>A c.278C>A (p.Thr93Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.78586667C= | CA2189588888 | CHRNA5 | c.281C= (p.Thr94=) c.96C= c.278C= (p.Thr93=) | |
15 | g.78586667C>G | CA393575679 | CHRNA5 | c.281C>G (p.Thr94Arg) c.96C>G c.278C>G (p.Thr93Arg) | |
15 | g.78586667C>T | CA393575680 | CHRNA5 | c.281C>T (p.Thr94Ile) c.96C>T c.278C>T (p.Thr93Ile) | |
15 | g.78586668A>C | CA491615642 | CHRNA5 | c.282A>C (p.Thr94=) c.97A>C c.279A>C (p.Thr93=) | |
15 | g.78586668A>G | CA491615643 | CHRNA5 | c.282A>G (p.Thr94=) c.97A>G c.279A>G (p.Thr93=) | |
15 | g.78586668A>T | CA491615644 | CHRNA5 | c.282A>T (p.Thr94=) c.97A>T c.279A>T (p.Thr93=) | |
15 | g.78586671_78586674del | CA2629785784 | CHRNA5 | c.285_288del (p.Asn96SerfsTer3) c.100_103del c.282_285del (p.Asn95SerfsTer3) | gnomAD v4 |
15 | g.78586669A>C | CA393575681 | CHRNA5 | c.283A>C (p.Thr95Pro) c.98A>C c.280A>C (p.Thr94Pro) | |
15 | g.78586669A>G | CA393575682 | CHRNA5 | c.283A>G (p.Thr95Ala) c.98A>G c.280A>G (p.Thr94Ala) | |
15 | g.78586669A>T | CA393575683 | CHRNA5 | c.283A>T (p.Thr95Ser) c.98A>T c.280A>T (p.Thr94Ser) | |
15 | g.78586670C>A | CA393575684 | CHRNA5 | c.284C>A (p.Thr95Lys) c.99C>A c.281C>A (p.Thr94Lys) | gnomAD v4 |
15 | g.78586670C= | CA2189588892 | CHRNA5 | c.284C= (p.Thr95=) c.99C= c.281C= (p.Thr94=) | |
15 | g.78586670C>G | CA273893081 | CHRNA5 | c.284C>G (p.Thr95Arg) c.99C>G c.281C>G (p.Thr94Arg) | dbSNP |
15 | g.78586670C>T | CA393575685 | CHRNA5 | c.284C>T (p.Thr95Ile) c.99C>T c.281C>T (p.Thr94Ile) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.78586671A>C | CA491615655 | CHRNA5 | c.285A>C (p.Thr95=) c.100A>C c.282A>C (p.Thr94=) | |
15 | g.78586671A>G | CA491615657 | CHRNA5 | c.285A>G (p.Thr95=) c.100A>G c.282A>G (p.Thr94=) | gnomAD v4 |
15 | g.78586671A>T | CA491615659 | CHRNA5 | c.285A>T (p.Thr95=) c.100A>T c.282A>T (p.Thr94=) | |
15 | g.78586672A>C | CA393575686 | CHRNA5 | c.286A>C (p.Asn96His) c.101A>C c.283A>C (p.Asn95His) | |
15 | g.78586672A>G | CA393575687 | CHRNA5 | c.286A>G (p.Asn96Asp) c.101A>G c.283A>G (p.Asn95Asp) | gnomAD v4 |
15 | g.78586672A>T | CA393575688 | CHRNA5 | c.286A>T (p.Asn96Tyr) c.101A>T c.283A>T (p.Asn95Tyr) | |
15 | g.78586673A>C | CA393575689 | CHRNA5 | c.287A>C (p.Asn96Thr) c.102A>C c.284A>C (p.Asn95Thr) | |
15 | g.78586673A>G | CA393575690 | CHRNA5 | c.287A>G (p.Asn96Ser) c.102A>G c.284A>G (p.Asn95Ser) | |
15 | g.78586673A>T | CA393575691 | CHRNA5 | c.287A>T (p.Asn96Ile) c.102A>T c.284A>T (p.Asn95Ile) | |
15 | g.78586674C>A | CA393575693 | CHRNA5 | c.288C>A (p.Asn96Lys) c.103C>A c.285C>A (p.Asn95Lys) | gnomAD v4 |
15 | g.78586674C= | CA2189588899 | CHRNA5 | c.288C= (p.Asn96=) c.103C= c.285C= (p.Asn95=) | |
15 | g.78586674C>G | CA393575692 | CHRNA5 | c.288C>G (p.Asn96Lys) c.103C>G c.285C>G (p.Asn95Lys) | |
15 | g.78586674C>T | CA7683968 | CHRNA5 | c.288C>T (p.Asn96=) c.103C>T c.285C>T (p.Asn95=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.78586675G>A | CA7683969 | CHRNA5 | c.289G>A (p.Val97Ile) c.104G>A c.286G>A (p.Val96Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.78586675G>C | CA393575694 | CHRNA5 | c.289G>C (p.Val97Leu) c.104G>C c.286G>C (p.Val96Leu) | |
15 | g.78586675G= | CA2189588903 | CHRNA5 | c.289G= (p.Val97=) c.104G= c.286G= (p.Val96=) | |
15 | g.78586675G>T | CA393575695 | CHRNA5 | c.289G>T (p.Val97Phe) c.104G>T c.286G>T (p.Val96Phe) | |
15 | g.78586676T>A | CA393575696 | CHRNA5 | c.290T>A (p.Val97Asp) c.105T>A c.287T>A (p.Val96Asp) | gnomAD v4 COSMIC |
15 | g.78586676T>C | CA393575697 | CHRNA5 | c.290T>C (p.Val97Ala) c.105T>C c.287T>C (p.Val96Ala) | |
15 | g.78586676T>G | CA393575698 | CHRNA5 | c.290T>G (p.Val97Gly) c.105T>G c.287T>G (p.Val96Gly) | |
15 | g.78586677C>A | CA491615677 | CHRNA5 | c.291C>A (p.Val97=) c.106C>A c.288C>A (p.Val96=) | |
15 | g.78586677C= | CA2189588907 | CHRNA5 | c.291C= (p.Val97=) c.106C= c.288C= (p.Val96=) | |
15 | g.78586677C>G | CA491615679 | CHRNA5 | c.291C>G (p.Val97=) c.106C>G c.288C>G (p.Val96=) | |
15 | g.78586677C>T | CA491615681 | CHRNA5 | c.291C>T (p.Val97=) c.106C>T c.288C>T (p.Val96=) | dbSNP |
15 | g.78586678T>A | CA393575699 | CHRNA5 | c.292T>A (p.Trp98Arg) c.107T>A c.289T>A (p.Trp97Arg) | gnomAD v4 |
15 | g.78586678T>C | CA393575700 | CHRNA5 | c.292T>C (p.Trp98Arg) c.107T>C c.289T>C (p.Trp97Arg) | |
15 | g.78586678T>G | CA393575701 | CHRNA5 | c.292T>G (p.Trp98Gly) c.107T>G c.289T>G (p.Trp97Gly) | |
15 | g.78586679G>A | CA393575702 | CHRNA5 | c.293G>A (p.Trp98Ter) c.108G>A c.290G>A (p.Trp97Ter) | |
15 | g.78586679G>C | CA393575703 | CHRNA5 | c.293G>C (p.Trp98Ser) c.108G>C c.290G>C (p.Trp97Ser) | |
15 | g.78586679G>T | CA393575704 | CHRNA5 | c.293G>T (p.Trp98Leu) c.108G>T c.290G>T (p.Trp97Leu) | gnomAD v4 |
15 | g.78586680del | CA2629785807 | CHRNA5 | c.294del (p.Trp98CysfsTer2) c.109del c.291del (p.Trp97CysfsTer2) | gnomAD v4 |
15 | g.78586680G>A | CA273893082 | CHRNA5 | c.294G>A (p.Trp98Ter) c.109G>A c.291G>A (p.Trp97Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.78586680G>C | CA393575705 | CHRNA5 | c.294G>C (p.Trp98Cys) c.109G>C c.291G>C (p.Trp97Cys) | |
15 | g.78586680G= | CA2189588910 | CHRNA5 | c.294G= (p.Trp98=) c.109G= c.291G= (p.Trp97=) | |
15 | g.78586680G>T | CA393575706 | CHRNA5 | c.294G>T (p.Trp98Cys) c.109G>T c.291G>T (p.Trp97Cys) | COSMIC |
15 | g.78586681T>A | CA393575707 | CHRNA5 | c.295T>A (p.Leu99Met) c.110T>A c.292T>A (p.Leu98Met) | |
15 | g.78586681T>C | CA491615695 | CHRNA5 | c.295T>C (p.Leu99=) c.110T>C c.292T>C (p.Leu98=) | |
15 | g.78586681T>G | CA393575708 | CHRNA5 | c.295T>G (p.Leu99Val) c.110T>G c.292T>G (p.Leu98Val) | |
15 | g.78586682del | CA2629785811 | CHRNA5 | c.296del (p.Leu99Ter) c.111del c.293del (p.Leu98Ter) | gnomAD v4 |
15 | g.78586682T>A | CA393575709 | CHRNA5 | c.296T>A (p.Leu99Ter) c.111T>A c.293T>A (p.Leu98Ter) | |
15 | g.78586682T>C | CA393575710 | CHRNA5 | c.296T>C (p.Leu99Ser) c.111T>C c.293T>C (p.Leu98Ser) | |
15 | g.78586682T>G | CA393575711 | CHRNA5 | c.296T>G (p.Leu99Trp) c.111T>G c.293T>G (p.Leu98Trp) | gnomAD v4 |
15 | g.78586683G>A | CA491615700 | CHRNA5 | c.297G>A (p.Leu99=) c.112G>A c.294G>A (p.Leu98=) | gnomAD v4 |
15 | g.78586683G>C | CA393575712 | CHRNA5 | c.297G>C (p.Leu99Phe) c.112G>C c.294G>C (p.Leu98Phe) | gnomAD v4 |
15 | g.78586683G>T | CA393575713 | CHRNA5 | c.297G>T (p.Leu99Phe) c.112G>T c.294G>T (p.Leu98Phe) | |
15 | g.78586684A>C | CA393575714 | CHRNA5 | c.298A>C (p.Lys100Gln) c.113A>C c.295A>C (p.Lys99Gln) | |
15 | g.78586684A>G | CA393575715 | CHRNA5 | c.298A>G (p.Lys100Glu) c.113A>G c.295A>G (p.Lys99Glu) | |
15 | g.78586684A>T | CA393575716 | CHRNA5 | c.298A>T (p.Lys100Ter) c.113A>T c.295A>T (p.Lys99Ter) | |
15 | g.78586685A>C | CA393575717 | CHRNA5 | c.299A>C (p.Lys100Thr) c.114A>C c.296A>C (p.Lys99Thr) | |
15 | g.78586685A>G | CA393575718 | CHRNA5 | c.299A>G (p.Lys100Arg) c.114A>G c.296A>G (p.Lys99Arg) | gnomAD v4 |
15 | g.78586685A>T | CA393575719 | CHRNA5 | c.299A>T (p.Lys100Ile) c.114A>T c.296A>T (p.Lys99Ile) | |
15 | g.78586686A>C | CA393575720 | CHRNA5 | c.300A>C (p.Lys100Asn) c.115A>C c.297A>C (p.Lys99Asn) | |
15 | g.78586686A>G | CA491615709 | CHRNA5 | c.300A>G (p.Lys100=) c.115A>G c.297A>G (p.Lys99=) | |
15 | g.78586686A>T | CA393575721 | CHRNA5 | c.300A>T (p.Lys100Asn) c.115A>T c.297A>T (p.Lys99Asn) | |
15 | g.78586687C>A | CA393575722 | CHRNA5 | c.301C>A (p.Gln101Lys) c.116C>A c.298C>A (p.Gln100Lys) | gnomAD v4 |
15 | g.78586687C= | CA2189588912 | CHRNA5 | c.301C= (p.Gln101=) c.116C= c.298C= (p.Gln100=) | |
15 | g.78586687C>G | CA393575723 | CHRNA5 | c.301C>G (p.Gln101Glu) c.116C>G c.298C>G (p.Gln100Glu) | |
15 | g.78586687C>T | CA273893083 | CHRNA5 | c.301C>T (p.Gln101Ter) c.116C>T c.298C>T (p.Gln100Ter) | dbSNP gnomAD v4 |
15 | g.78586688A= | CA2189588917 | CHRNA5 | c.302A= (p.Gln101=) c.117A= c.299A= (p.Gln100=) | |
15 | g.78586688A>C | CA393575724 | CHRNA5 | c.302A>C (p.Gln101Pro) c.117A>C c.299A>C (p.Gln100Pro) | |
15 | g.78586688A>G | CA7683970 | CHRNA5 | c.302A>G (p.Gln101Arg) c.117A>G c.299A>G (p.Gln100Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.78586688A>T | CA393575725 | CHRNA5 | c.302A>T (p.Gln101Leu) c.117A>T c.299A>T (p.Gln100Leu) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.78586689G>A | CA491615719 | CHRNA5 | c.303G>A (p.Gln101=) c.118G>A c.300G>A (p.Gln100=) | gnomAD v4 |
15 | g.78586689G>C | CA393575726 | CHRNA5 | c.303G>C (p.Gln101His) c.118G>C c.300G>C (p.Gln100His) | |
15 | g.78586689G>T | CA393575727 | CHRNA5 | c.303G>T (p.Gln101His) c.118G>T c.300G>T (p.Gln100His) | |
15 | g.78586690G>A | CA7683971 | CHRNA5 | c.303+1G>A (n.303+1G>A) c.118+1G>A c.300+1G>A (n.300+1G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.78586690G>C | CA393575728 | CHRNA5 | c.303+1G>C (n.303+1G>C) c.118+1G>C c.300+1G>C (n.300+1G>C) | |
15 | g.78586690G= | CA2189588920 | CHRNA5 | c.303+1G= (n.303+1G=) c.118+1G= c.300+1G= (n.300+1G=) | |
15 | g.78586690G>T | CA393575729 | CHRNA5 | c.303+1G>T (n.303+1G>T) c.118+1G>T c.300+1G>T (n.300+1G>T) | gnomAD v4 |
15 | g.78586691T>A | CA393575730 | CHRNA5 | c.303+2T>A (n.303+2T>A) c.118+2T>A c.300+2T>A (n.300+2T>A) | |
15 | g.78586691T>C | CA393575731 | CHRNA5 | c.303+2T>C (n.303+2T>C) c.118+2T>C c.300+2T>C (n.300+2T>C) | |
15 | g.78586691T>G | CA393575732 | CHRNA5 | c.303+2T>G (n.303+2T>G) c.118+2T>G c.300+2T>G (n.300+2T>G) | |
15 | g.78586692A= | CA2189588922 | CHRNA5 | c.303+3A= (n.303+3A=) c.118+3A= c.300+3A= (n.300+3A=) | |
15 | g.78586692A>G | CA715990924 | CHRNA5 | c.303+3A>G (n.303+3A>G) c.118+3A>G c.300+3A>G (n.300+3A>G) | dbSNP gnomAD v4 |
15 | g.78586692A>T | CA2629785841 | CHRNA5 | c.303+3A>T (n.303+3A>T) c.118+3A>T c.300+3A>T (n.300+3A>T) | gnomAD v4 |
15 | g.78586693T>C | CA2629785844 | CHRNA5 | c.303+4T>C (n.303+4T>C) c.118+4T>C c.300+4T>C (n.300+4T>C) | gnomAD v4 |
15 | g.78586694G>A | CA2629785847 | CHRNA5 | c.303+5G>A (n.303+5G>A) c.118+5G>A c.300+5G>A (n.300+5G>A) | gnomAD v4 |
15 | g.78586696G>A | CA971788204 | CHRNA5 | c.303+7G>A (n.303+7G>A) c.118+7G>A c.300+7G>A (n.300+7G>A) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.78586696G= | CA2189588925 | CHRNA5 | c.303+7G= (n.303+7G=) c.118+7G= c.300+7G= (n.300+7G=) | |
15 | g.78586698G>A | CA7683972 | CHRNA5 | c.303+9G>A (n.303+9G>A) c.118+9G>A c.300+9G>A (n.300+9G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.78586698G= | CA2189588927 | CHRNA5 | c.303+9G= (n.303+9G=) c.118+9G= c.300+9G= (n.300+9G=) | |
15 | g.78586699T>C | CA273893087 | CHRNA5 | c.303+10T>C (n.303+10T>C) c.118+10T>C c.300+10T>C (n.300+10T>C) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.78586699T= | CA2189588937 | CHRNA5 | c.303+10T= (n.303+10T=) c.118+10T= c.300+10T= (n.300+10T=) | |
15 | g.78586703A>T | CA2629785857 | CHRNA5 | c.303+14A>T (n.303+14A>T) c.118+14A>T c.300+14A>T (n.300+14A>T) | gnomAD v4 |
15 | g.78586704T>A | CA2629785858 | CHRNA5 | c.303+15T>A (n.303+15T>A) c.118+15T>A c.300+15T>A (n.300+15T>A) | gnomAD v4 |
15 | g.78586706C>A | CA2629785861 | CHRNA5 | c.303+17C>A (n.303+17C>A) c.118+17C>A c.300+17C>A (n.300+17C>A) | gnomAD v4 |
15 | g.78586706C= | CA2189588940 | CHRNA5 | c.303+17C= (n.303+17C=) c.118+17C= c.300+17C= (n.300+17C=) | |
15 | g.78586706C>G | CA619234160 | CHRNA5 | c.303+17C>G (n.303+17C>G) c.118+17C>G c.300+17C>G (n.300+17C>G) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.78586710C>A | CA2629785869 | CHRNA5 | c.303+21C>A (n.303+21C>A) c.118+21C>A c.300+21C>A (n.300+21C>A) | gnomAD v4 |
15 | g.78586710C= | CA2189588943 | CHRNA5 | c.303+21C= (n.303+21C=) c.118+21C= c.300+21C= (n.300+21C=) | |
15 | g.78586710C>G | CA7683974 | CHRNA5 | c.303+21C>G (n.303+21C>G) c.118+21C>G c.300+21C>G (n.300+21C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.78586710C>T | CA7683973 | CHRNA5 | c.303+21C>T (n.303+21C>T) c.118+21C>T c.300+21C>T (n.300+21C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.78586711G>A | CA7683975 | CHRNA5 | c.303+22G>A (n.303+22G>A) c.118+22G>A c.300+22G>A (n.300+22G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.78586711G>C | CA7683976 | CHRNA5 | c.303+22G>C (n.303+22G>C) c.118+22G>C c.300+22G>C (n.300+22G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.78586711G= | CA2189588948 | CHRNA5 | c.303+22G= (n.303+22G=) c.118+22G= c.300+22G= (n.300+22G=) | |
15 | g.78586711G>T | CA2629785876 | CHRNA5 | c.303+22G>T (n.303+22G>T) c.118+22G>T c.300+22G>T (n.300+22G>T) | gnomAD v4 |
15 | g.78586712G>A | CA2629785879 | CHRNA5 | c.303+23G>A (n.303+23G>A) c.118+23G>A c.300+23G>A (n.300+23G>A) | gnomAD v4 |
15 | g.78586712G= | CA2189588953 | CHRNA5 | c.303+23G= (n.303+23G=) c.118+23G= c.300+23G= (n.300+23G=) | |
15 | g.78586712G>T | CA7683977 | CHRNA5 | c.303+23G>T (n.303+23G>T) c.118+23G>T c.300+23G>T (n.300+23G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.78586713G>A | CA619234162 | CHRNA5 | c.303+24G>A (n.303+24G>A) c.118+24G>A c.300+24G>A (n.300+24G>A) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.78586713G= | CA2189588955 | CHRNA5 | c.303+24G= (n.303+24G=) c.118+24G= c.300+24G= (n.300+24G=) | |
15 | g.78586714C>A | CA2629785883 | CHRNA5 | c.303+25C>A (n.303+25C>A) c.118+25C>A c.300+25C>A (n.300+25C>A) | gnomAD v4 |
15 | g.78586714C>T | CA2629785884 | CHRNA5 | c.303+25C>T (n.303+25C>T) c.118+25C>T c.300+25C>T (n.300+25C>T) | gnomAD v4 |
15 | g.78586715A>G | CA2629785886 | CHRNA5 | c.303+26A>G (n.303+26A>G) c.118+26A>G c.300+26A>G (n.300+26A>G) | gnomAD v4 |
15 | g.78586716C>A | CA2581227885 | CHRNA5 | c.303+27C>A (n.303+27C>A) c.118+27C>A c.300+27C>A (n.300+27C>A) | gnomAD v4 |
15 | g.78586716C= | CA2189588958 | CHRNA5 | c.303+27C= (n.303+27C=) c.118+27C= c.300+27C= (n.300+27C=) | |
15 | g.78586716C>G | CA2581227884 | CHRNA5 | c.303+27C>G (n.303+27C>G) c.118+27C>G c.300+27C>G (n.300+27C>G) | |
15 | g.78586716C>T | CA7683978 | CHRNA5 | c.303+27C>T (n.303+27C>T) c.118+27C>T c.300+27C>T (n.300+27C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.78586717C>A | CA2629785888 | CHRNA5 | c.303+28C>A (n.303+28C>A) c.118+28C>A c.300+28C>A (n.300+28C>A) | gnomAD v4 |
15 | g.78586717C>T | CA2629785890 | CHRNA5 | c.303+28C>T (n.303+28C>T) c.118+28C>T c.300+28C>T (n.300+28C>T) | gnomAD v4 |
15 | g.78586718C>A | CA2629785891 | CHRNA5 | c.303+29C>A (n.303+29C>A) c.118+29C>A c.300+29C>A (n.300+29C>A) | gnomAD v4 |
15 | g.78586718C>T | CA2629785892 | CHRNA5 | c.303+29C>T (n.303+29C>T) c.118+29C>T c.300+29C>T (n.300+29C>T) | gnomAD v4 |
15 | g.78586719A= | CA2189588963 | CHRNA5 | c.303+30A= (n.303+30A=) c.118+30A= c.300+30A= (n.300+30A=) | |
15 | g.78586719A>C | CA273893115 | CHRNA5 | c.303+30A>C (n.303+30A>C) c.118+30A>C c.300+30A>C (n.300+30A>C) | dbSNP |
15 | g.78586719A>G | CA2629785895 | CHRNA5 | c.303+30A>G (n.303+30A>G) c.118+30A>G c.300+30A>G (n.300+30A>G) | gnomAD v4 |
15 | g.78586720A= | CA2189588966 | CHRNA5 | c.303+31A= (n.303+31A=) c.118+31A= c.300+31A= (n.300+31A=) | |
15 | g.78586720A>G | CA7683979 | CHRNA5 | c.303+31A>G (n.303+31A>G) c.118+31A>G c.300+31A>G (n.300+31A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.78586721T>C | CA2629785898 | CHRNA5 | c.303+32T>C (n.303+32T>C) c.118+32T>C c.300+32T>C (n.300+32T>C) | gnomAD v4 |
15 | g.78586722del | CA2629785899 | CHRNA5 | c.303+33del (n.303+33del) c.118+33del c.300+33del (n.300+33del) | gnomAD v4 |
15 | g.78586722T>A | CA7683980 | CHRNA5 | c.303+33T>A (n.303+33T>A) c.118+33T>A c.300+33T>A (n.300+33T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.78586722T= | CA2189588971 | CHRNA5 | c.303+33T= (n.303+33T=) c.118+33T= c.300+33T= (n.300+33T=) | |
15 | g.78586723A>G | CA2629785900 | CHRNA5 | c.303+34A>G (n.303+34A>G) c.118+34A>G c.300+34A>G (n.300+34A>G) | gnomAD v4 |
15 | g.78586724G>A | CA2629785902 | CHRNA5 | c.303+35G>A (n.303+35G>A) c.118+35G>A c.300+35G>A (n.300+35G>A) | gnomAD v4 |
15 | g.78586724G>C | CA7683982 | CHRNA5 | c.303+35G>C (n.303+35G>C) c.118+35G>C c.300+35G>C (n.300+35G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.78586724G= | CA2189588974 | CHRNA5 | c.303+35G= (n.303+35G=) c.118+35G= c.300+35G= (n.300+35G=) | |
15 | g.78586724G>T | CA7683981 | CHRNA5 | c.303+35G>T (n.303+35G>T) c.118+35G>T c.300+35G>T (n.300+35G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.78586725T>C | CA2629785903 | CHRNA5 | c.303+36T>C (n.303+36T>C) c.118+36T>C c.300+36T>C (n.300+36T>C) | gnomAD v4 |
15 | g.78586726G>A | CA2629785905 | CHRNA5 | c.303+37G>A (n.303+37G>A) c.118+37G>A c.300+37G>A (n.300+37G>A) | gnomAD v4 |
15 | g.78586726G>C | CA2629785907 | CHRNA5 | c.303+37G>C (n.303+37G>C) c.118+37G>C c.300+37G>C (n.300+37G>C) | gnomAD v4 |
15 | g.78586726G>T | CA2629785906 | CHRNA5 | c.303+37G>T (n.303+37G>T) c.118+37G>T c.300+37G>T (n.300+37G>T) | gnomAD v4 |
15 | g.78586727A>G | CA2629785910 | CHRNA5 | c.303+38A>G (n.303+38A>G) c.118+38A>G c.300+38A>G (n.300+38A>G) | gnomAD v4 |
15 | g.78586727A>T | CA2629785912 | CHRNA5 | c.303+38A>T (n.303+38A>T) c.118+38A>T c.300+38A>T (n.300+38A>T) | gnomAD v4 |
15 | g.78586728C>A | CA2629785913 | CHRNA5 | c.303+39C>A (n.303+39C>A) c.118+39C>A c.300+39C>A (n.300+39C>A) | gnomAD v4 |
15 | g.78586728C>T | CA2629785915 | CHRNA5 | c.303+39C>T (n.303+39C>T) c.118+39C>T c.300+39C>T (n.300+39C>T) | gnomAD v4 |
15 | g.78586729T>A | CA2629785917 | CHRNA5 | c.303+40T>A (n.303+40T>A) c.118+40T>A c.300+40T>A (n.300+40T>A) | gnomAD v4 |
15 | g.78586729T>C | CA2629785918 | CHRNA5 | c.303+40T>C (n.303+40T>C) c.118+40T>C c.300+40T>C (n.300+40T>C) | gnomAD v4 |
15 | g.78586730G>A | CA2629785923 | CHRNA5 | c.303+41G>A (n.303+41G>A) c.118+41G>A c.300+41G>A (n.300+41G>A) | gnomAD v4 |
15 | g.78586732del | CA2544760188 | CHRNA5 | c.303+43del (n.303+43del) c.118+43del c.300+43del (n.300+43del) | gnomAD v4 |
15 | g.78586731_78586732del | CA2629785922 | CHRNA5 | c.303+42_303+43del (n.303+42_303+43del) c.118+42_118+43del c.300+42_300+43del (n.300+42_300+43del) | gnomAD v4 |
15 | g.78586731G>A | CA2629785926 | CHRNA5 | c.303+42G>A (n.303+42G>A) c.118+42G>A c.300+42G>A (n.300+42G>A) | gnomAD v4 |
15 | g.78586731G>T | CA2629785927 | CHRNA5 | c.303+42G>T (n.303+42G>T) c.118+42G>T c.300+42G>T (n.300+42G>T) | gnomAD v4 |
15 | g.78586732G>A | CA2629785928 | CHRNA5 | c.303+43G>A (n.303+43G>A) c.118+43G>A c.300+43G>A (n.300+43G>A) | gnomAD v4 |
15 | g.78586732G>T | CA2629785929 | CHRNA5 | c.303+43G>T (n.303+43G>T) c.118+43G>T c.300+43G>T (n.300+43G>T) | gnomAD v4 |
15 | g.78586733A>G | CA2629785930 | CHRNA5 | c.303+44A>G (n.303+44A>G) c.118+44A>G c.300+44A>G (n.300+44A>G) | gnomAD v4 |
15 | g.78586733A>T | CA2629785932 | CHRNA5 | c.303+44A>T (n.303+44A>T) c.118+44A>T c.300+44A>T (n.300+44A>T) | gnomAD v4 |
15 | g.78586734C>A | CA2629785934 | CHRNA5 | c.303+45C>A (n.303+45C>A) c.118+45C>A c.300+45C>A (n.300+45C>A) | gnomAD v4 |
15 | g.78586734C>T | CA2629785935 | CHRNA5 | c.303+45C>T (n.303+45C>T) c.118+45C>T c.300+45C>T (n.300+45C>T) | gnomAD v4 |
15 | g.78586735A= | CA2189588977 | CHRNA5 | c.303+46A= (n.303+46A=) c.118+46A= c.300+46A= (n.300+46A=) | |
15 | g.78586735A>G | CA2189588978 | CHRNA5 | c.303+46A>G (n.303+46A>G) c.118+46A>G c.300+46A>G (n.300+46A>G) | dbSNP gnomAD v4 |
15 | g.78586736C>A | CA2629785939 | CHRNA5 | c.303+47C>A (n.303+47C>A) c.118+47C>A c.300+47C>A (n.300+47C>A) | gnomAD v4 |
15 | g.78586736C>T | CA2629785942 | CHRNA5 | c.303+47C>T (n.303+47C>T) c.118+47C>T c.300+47C>T (n.300+47C>T) | gnomAD v4 |
15 | g.78586737C>A | CA2575805764 | CHRNA5 | c.303+48C>A (n.303+48C>A) c.118+48C>A c.300+48C>A (n.300+48C>A) | gnomAD v4 |
15 | g.78586737C= | CA2189588981 | CHRNA5 | c.303+48C= (n.303+48C=) c.118+48C= c.300+48C= (n.300+48C=) | |
15 | g.78586737C>T | CA273893131 | CHRNA5 | c.303+48C>T (n.303+48C>T) c.118+48C>T c.300+48C>T (n.300+48C>T) | dbSNP gnomAD v4 |
15 | g.78586738T>A | CA2629785944 | CHRNA5 | c.303+49T>A (n.303+49T>A) c.118+49T>A c.300+49T>A (n.300+49T>A) | gnomAD v4 |
15 | g.78586738T>C | CA2629785946 | CHRNA5 | c.303+49T>C (n.303+49T>C) c.118+49T>C c.300+49T>C (n.300+49T>C) | gnomAD v4 |
15 | g.78586739A= | CA2189588983 | CHRNA5 | c.303+50A= (n.303+50A=) c.118+50A= c.300+50A= (n.300+50A=) | |
15 | g.78586739A>G | CA619234165 | CHRNA5 | c.303+50A>G (n.303+50A>G) c.118+50A>G c.300+50A>G (n.300+50A>G) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.78586740T>C | CA2629785952 | CHRNA5 | c.303+51T>C (n.303+51T>C) c.118+51T>C c.300+51T>C (n.300+51T>C) | gnomAD v4 |
15 | g.78586744del | CA2629785951 | CHRNA5 | c.303+55del (n.303+55del) c.118+55del c.300+55del (n.300+55del) | gnomAD v4 |
15 | g.78586742_78586745delinsTTTA | CA2189588986 | CHRNA5 | c.303+53_303+56delinsTTTA (n.303+53_303+56delinsTTTA) c.118+53_118+56delinsTTTA c.300+53_300+56delinsTTTA (n.300+53_300+56delinsTTTA) | |
15 | g.78586744_78586747del | CA2523662788 | CHRNA5 | c.303+55_303+58del (n.303+55_303+58del) c.118+55_118+58del c.300+55_300+58del (n.300+55_300+58del) | |
15 | g.78586747_78586749del | CA2189588987 | CHRNA5 | c.303+58_303+60del (n.303+58_303+60del) c.118+58_118+60del c.300+58_300+60del (n.300+58_300+60del) | dbSNP gnomAD v4 |