Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.154571373G>A | CA342630287 | CHRNB2 | c.550G>A (p.Asp184Asn) c.556G>A (p.Asp186Asn) c.40G>A (p.Asp14Asn) n.802G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571373G>C | CA342630289 | CHRNB2 | c.550G>C (p.Asp184His) c.556G>C (p.Asp186His) c.40G>C (p.Asp14His) n.802G>C | |
1 | g.154571373G= | CA2480925237 | CHRNB2 | c.550G= (p.Asp184=) c.556G= (p.Asp186=) c.40G= (p.Asp14=) n.802G= | |
1 | g.154571373G>T | CA342630290 | CHRNB2 | c.550G>T (p.Asp184Tyr) c.556G>T (p.Asp186Tyr) c.40G>T (p.Asp14Tyr) n.802G>T | |
1 | g.154571374A>C | CA342630293 | CHRNB2 | c.551A>C (p.Asp184Ala) c.557A>C (p.Asp186Ala) c.41A>C (p.Asp14Ala) n.803A>C | |
1 | g.154571374A>G | CA342630295 | CHRNB2 | c.551A>G (p.Asp184Gly) c.557A>G (p.Asp186Gly) c.41A>G (p.Asp14Gly) n.803A>G | |
1 | g.154571374A>T | CA342630291 | CHRNB2 | c.551A>T (p.Asp184Val) c.557A>T (p.Asp186Val) c.41A>T (p.Asp14Val) n.803A>T | |
1 | g.154571375C>A | CA342630297 | CHRNB2 | c.552C>A (p.Asp184Glu) c.558C>A (p.Asp186Glu) c.42C>A (p.Asp14Glu) n.804C>A | |
1 | g.154571375C= | CA2480925238 | CHRNB2 | c.552C= (p.Asp184=) c.558C= (p.Asp186=) c.42C= (p.Asp14=) n.804C= | |
1 | g.154571375C>G | CA30834201 | CHRNB2 | c.552C>G (p.Asp184Glu) c.558C>G (p.Asp186Glu) c.42C>G (p.Asp14Glu) n.804C>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.154571375C>T | CA421230942 | CHRNB2 | c.552C>T (p.Asp184=) c.558C>T (p.Asp186=) c.42C>T (p.Asp14=) n.804C>T | gnomAD v4 |
1 | g.154571376T>A | CA342630302 | CHRNB2 | c.553T>A (p.Leu185Met) c.559T>A (p.Leu187Met) c.43T>A (p.Leu15Met) n.805T>A | |
1 | g.154571376T>C | CA421230943 | CHRNB2 | c.553T>C (p.Leu185=) c.559T>C (p.Leu187=) c.43T>C (p.Leu15=) n.805T>C | dbSNP gnomAD v2 |
1 | g.154571376T>G | CA342630304 | CHRNB2 | c.553T>G (p.Leu185Val) c.559T>G (p.Leu187Val) c.43T>G (p.Leu15Val) n.805T>G | |
1 | g.154571376T= | CA2480925239 | CHRNB2 | c.553T= (p.Leu185=) c.559T= (p.Leu187=) c.43T= (p.Leu15=) n.805T= | |
1 | g.154571377T>A | CA342630306 | CHRNB2 | c.554T>A (p.Leu185Ter) c.560T>A (p.Leu187Ter) c.44T>A (p.Leu15Ter) n.806T>A | |
1 | g.154571377T>C | CA342630307 | CHRNB2 | c.554T>C (p.Leu185Ser) c.560T>C (p.Leu187Ser) c.44T>C (p.Leu15Ser) n.806T>C | ClinVar dbSNP |
1 | g.154571377T>G | CA342630308 | CHRNB2 | c.554T>G (p.Leu185Trp) c.560T>G (p.Leu187Trp) c.44T>G (p.Leu15Trp) n.806T>G | |
1 | g.154571377T= | CA2480925240 | CHRNB2 | c.554T= (p.Leu185=) c.560T= (p.Leu187=) c.44T= (p.Leu15=) n.806T= | |
1 | g.154571378G>A | CA421230944 | CHRNB2 | c.555G>A (p.Leu185=) c.561G>A (p.Leu187=) c.45G>A (p.Leu15=) n.807G>A | |
1 | g.154571378G>C | CA342630310 | CHRNB2 | c.555G>C (p.Leu185Phe) c.561G>C (p.Leu187Phe) c.45G>C (p.Leu15Phe) n.807G>C | |
1 | g.154571378G>T | CA342630313 | CHRNB2 | c.555G>T (p.Leu185Phe) c.561G>T (p.Leu187Phe) c.45G>T (p.Leu15Phe) n.807G>T | |
1 | g.154571379G>A | CA342630315 | CHRNB2 | c.556G>A (p.Val186Met) c.562G>A (p.Val188Met) c.46G>A (p.Val16Met) n.808G>A | gnomAD v4 |
1 | g.154571379G>C | CA342630317 | CHRNB2 | c.556G>C (p.Val186Leu) c.562G>C (p.Val188Leu) c.46G>C (p.Val16Leu) n.808G>C | |
1 | g.154571379G>T | CA342630319 | CHRNB2 | c.556G>T (p.Val186Leu) c.562G>T (p.Val188Leu) c.46G>T (p.Val16Leu) n.808G>T | gnomAD v4 |
1 | g.154571380T>A | CA342630321 | CHRNB2 | c.557T>A (p.Val186Glu) c.563T>A (p.Val188Glu) c.47T>A (p.Val16Glu) n.809T>A | |
1 | g.154571380T>C | CA342630322 | CHRNB2 | c.557T>C (p.Val186Ala) c.563T>C (p.Val188Ala) c.47T>C (p.Val16Ala) n.809T>C | |
1 | g.154571380T>G | CA342630324 | CHRNB2 | c.557T>G (p.Val186Gly) c.563T>G (p.Val188Gly) c.47T>G (p.Val16Gly) n.809T>G | |
1 | g.154571381G>A | CA421230945 | CHRNB2 | c.558G>A (p.Val186=) c.564G>A (p.Val188=) c.48G>A (p.Val16=) n.810G>A | |
1 | g.154571381G>C | CA421230946 | CHRNB2 | c.558G>C (p.Val186=) c.564G>C (p.Val188=) c.48G>C (p.Val16=) n.810G>C | |
1 | g.154571381G>T | CA421230947 | CHRNB2 | c.558G>T (p.Val186=) c.564G>T (p.Val188=) c.48G>T (p.Val16=) n.810G>T | |
1 | g.154571382C>A | CA342630328 | CHRNB2 | c.559C>A (p.Leu187Met) c.565C>A (p.Leu189Met) c.49C>A (p.Leu17Met) n.811C>A | |
1 | g.154571382C= | CA2480925241 | CHRNB2 | c.559C= (p.Leu187=) c.565C= (p.Leu189=) c.49C= (p.Leu17=) n.811C= | |
1 | g.154571382C>G | CA342630326 | CHRNB2 | c.559C>G (p.Leu187Val) c.565C>G (p.Leu189Val) c.49C>G (p.Leu17Val) n.811C>G | |
1 | g.154571382C>T | CA421230948 | CHRNB2 | c.559C>T (p.Leu187=) c.565C>T (p.Leu189=) c.49C>T (p.Leu17=) n.811C>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.154571382_154571386delinsCTGAA | CA2480925242 | CHRNB2 | c.559_563delinsCTGAA (p.Leu187=) c.565_569delinsCTGAA (p.Leu189=) c.49_53delinsCTGAA (p.Leu17=) n.811_815delinsCTGAA | |
1 | g.154571383T>A | CA342630331 | CHRNB2 | c.560T>A (p.Leu187Gln) c.566T>A (p.Leu189Gln) c.50T>A (p.Leu17Gln) n.812T>A | |
1 | g.154571383T>C | CA342630333 | CHRNB2 | c.560T>C (p.Leu187Pro) c.566T>C (p.Leu189Pro) c.50T>C (p.Leu17Pro) n.812T>C | |
1 | g.154571383T>G | CA342630334 | CHRNB2 | c.560T>G (p.Leu187Arg) c.566T>G (p.Leu189Arg) c.50T>G (p.Leu17Arg) n.812T>G | |
1 | g.154571383_154571386del | CA2480925243 | CHRNB2 | c.560_563del (p.Leu187ArgfsTer?) c.566_569del (p.Leu189ArgfsTer?) c.50_53del (p.Leu17ArgfsTer?) n.812_815del | dbSNP |
1 | g.154571384G>A | CA421230951 | CHRNB2 | c.561G>A (p.Leu187=) c.567G>A (p.Leu189=) c.51G>A (p.Leu17=) n.813G>A | gnomAD v4 |
1 | g.154571384G>C | CA421230949 | CHRNB2 | c.561G>C (p.Leu187=) c.567G>C (p.Leu189=) c.51G>C (p.Leu17=) n.813G>C | |
1 | g.154571384G= | CA2480925244 | CHRNB2 | c.561G= (p.Leu187=) c.567G= (p.Leu189=) c.51G= (p.Leu17=) n.813G= | |
1 | g.154571384G>T | CA421230950 | CHRNB2 | c.561G>T (p.Leu187=) c.567G>T (p.Leu189=) c.51G>T (p.Leu17=) n.813G>T | |
1 | g.154571385A>C | CA342630338 | CHRNB2 | c.562A>C (p.Lys188Gln) c.568A>C (p.Lys190Gln) c.52A>C (p.Lys18Gln) n.814A>C | |
1 | g.154571385A>G | CA342630340 | CHRNB2 | c.562A>G (p.Lys188Glu) c.568A>G (p.Lys190Glu) c.52A>G (p.Lys18Glu) n.814A>G | |
1 | g.154571385A>T | CA342630342 | CHRNB2 | c.562A>T (p.Lys188Ter) c.568A>T (p.Lys190Ter) c.52A>T (p.Lys18Ter) n.814A>T | |
1 | g.154571386dup | CA1007941553 | CHRNB2 | c.563dup (p.Ser189GlufsTer2) c.569dup (p.Ser191GlufsTer2) c.53dup (p.Ser19GlufsTer2) n.815dup | dbSNP gnomAD v3 gnomAD v4 |
1 | g.154571386A>C | CA342630345 | CHRNB2 | c.563A>C (p.Lys188Thr) c.569A>C (p.Lys190Thr) c.53A>C (p.Lys18Thr) n.815A>C | |
1 | g.154571386A>G | CA342630347 | CHRNB2 | c.563A>G (p.Lys188Arg) c.569A>G (p.Lys190Arg) c.53A>G (p.Lys18Arg) n.815A>G | |
1 | g.154571386A>T | CA342630349 | CHRNB2 | c.563A>T (p.Lys188Met) c.569A>T (p.Lys190Met) c.53A>T (p.Lys18Met) n.815A>T | |
1 | g.154571387G>A | CA421230952 | CHRNB2 | c.564G>A (p.Lys188=) c.570G>A (p.Lys190=) c.54G>A (p.Lys18=) n.816G>A | gnomAD v4 |
1 | g.154571387G>C | CA342630352 | CHRNB2 | c.564G>C (p.Lys188Asn) c.570G>C (p.Lys190Asn) c.54G>C (p.Lys18Asn) n.816G>C | |
1 | g.154571387G>T | CA342630354 | CHRNB2 | c.564G>T (p.Lys188Asn) c.570G>T (p.Lys190Asn) c.54G>T (p.Lys18Asn) n.816G>T | COSMIC |
1 | g.154571388A>C | CA342630360 | CHRNB2 | c.565A>C (p.Ser189Arg) c.571A>C (p.Ser191Arg) c.55A>C (p.Ser19Arg) n.817A>C | |
1 | g.154571388A>G | CA342630362 | CHRNB2 | c.565A>G (p.Ser189Gly) c.571A>G (p.Ser191Gly) c.55A>G (p.Ser19Gly) n.817A>G | gnomAD v4 |
1 | g.154571388A>T | CA342630357 | CHRNB2 | c.565A>T (p.Ser189Cys) c.571A>T (p.Ser191Cys) c.55A>T (p.Ser19Cys) n.817A>T | |
1 | g.154571389G>A | CA342630365 | CHRNB2 | c.566G>A (p.Ser189Asn) c.572G>A (p.Ser191Asn) c.56G>A (p.Ser19Asn) n.818G>A | |
1 | g.154571389G>C | CA342630366 | CHRNB2 | c.566G>C (p.Ser189Thr) c.572G>C (p.Ser191Thr) c.56G>C (p.Ser19Thr) n.818G>C | |
1 | g.154571389G>T | CA342630367 | CHRNB2 | c.566G>T (p.Ser189Ile) c.572G>T (p.Ser191Ile) c.56G>T (p.Ser19Ile) n.818G>T | |
1 | g.154571390T>A | CA342630368 | CHRNB2 | c.567T>A (p.Ser189Arg) c.573T>A (p.Ser191Arg) c.57T>A (p.Ser19Arg) n.819T>A | |
1 | g.154571390T>C | CA421230954 | CHRNB2 | c.567T>C (p.Ser189=) c.573T>C (p.Ser191=) c.57T>C (p.Ser19=) n.819T>C | |
1 | g.154571390T>G | CA342630369 | CHRNB2 | c.567T>G (p.Ser189Arg) c.573T>G (p.Ser191Arg) c.57T>G (p.Ser19Arg) n.819T>G | |
1 | g.154571391G>A | CA342630372 | CHRNB2 | c.568G>A (p.Glu190Lys) c.574G>A (p.Glu192Lys) c.58G>A (p.Glu20Lys) n.820G>A | |
1 | g.154571391G>C | CA342630370 | CHRNB2 | c.568G>C (p.Glu190Gln) c.574G>C (p.Glu192Gln) c.58G>C (p.Glu20Gln) n.820G>C | |
1 | g.154571391G= | CA2480925245 | CHRNB2 | c.568G= (p.Glu190=) c.574G= (p.Glu192=) c.58G= (p.Glu20=) n.820G= | |
1 | g.154571391G>T | CA342630371 | CHRNB2 | c.568G>T (p.Glu190Ter) c.574G>T (p.Glu192Ter) c.58G>T (p.Glu20Ter) n.820G>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.154571392A>C | CA342630373 | CHRNB2 | c.569A>C (p.Glu190Ala) c.575A>C (p.Glu192Ala) c.59A>C (p.Glu20Ala) n.821A>C | |
1 | g.154571392A>G | CA342630374 | CHRNB2 | c.569A>G (p.Glu190Gly) c.575A>G (p.Glu192Gly) c.59A>G (p.Glu20Gly) n.821A>G | |
1 | g.154571392A>T | CA342630375 | CHRNB2 | c.569A>T (p.Glu190Val) c.575A>T (p.Glu192Val) c.59A>T (p.Glu20Val) n.821A>T | |
1 | g.154571393G>A | CA421231004 | CHRNB2 | c.570G>A (p.Glu190=) c.576G>A (p.Glu192=) c.60G>A (p.Glu20=) n.822G>A | gnomAD v4 |
1 | g.154571393G>C | CA342630376 | CHRNB2 | c.570G>C (p.Glu190Asp) c.576G>C (p.Glu192Asp) c.60G>C (p.Glu20Asp) n.822G>C | |
1 | g.154571393G>T | CA342630377 | CHRNB2 | c.570G>T (p.Glu190Asp) c.576G>T (p.Glu192Asp) c.60G>T (p.Glu20Asp) n.822G>T | COSMIC |
1 | g.154571394G>A | CA342630378 | CHRNB2 | c.571G>A (p.Val191Met) c.577G>A (p.Val193Met) c.61G>A (p.Val21Met) n.823G>A | |
1 | g.154571394G>C | CA342630380 | CHRNB2 | c.571G>C (p.Val191Leu) c.577G>C (p.Val193Leu) c.61G>C (p.Val21Leu) n.823G>C | |
1 | g.154571394G>T | CA342630379 | CHRNB2 | c.571G>T (p.Val191Leu) c.577G>T (p.Val193Leu) c.61G>T (p.Val21Leu) n.823G>T | ClinVar dbSNP |
1 | g.154571395T>A | CA342630381 | CHRNB2 | c.572T>A (p.Val191Glu) c.578T>A (p.Val193Glu) c.62T>A (p.Val21Glu) n.824T>A | |
1 | g.154571395T>C | CA342630382 | CHRNB2 | c.572T>C (p.Val191Ala) c.578T>C (p.Val193Ala) c.62T>C (p.Val21Ala) n.824T>C | |
1 | g.154571395T>G | CA342630383 | CHRNB2 | c.572T>G (p.Val191Gly) c.578T>G (p.Val193Gly) c.62T>G (p.Val21Gly) n.824T>G | |
1 | g.154571396G>A | CA421231006 | CHRNB2 | c.573G>A (p.Val191=) c.579G>A (p.Val193=) c.63G>A (p.Val21=) n.825G>A | |
1 | g.154571396G>C | CA421231008 | CHRNB2 | c.573G>C (p.Val191=) c.579G>C (p.Val193=) c.63G>C (p.Val21=) n.825G>C | |
1 | g.154571396G>T | CA421231009 | CHRNB2 | c.573G>T (p.Val191=) c.579G>T (p.Val193=) c.63G>T (p.Val21=) n.825G>T | |
1 | g.154571397del | CA2648169931 | CHRNB2 | c.574del (p.Ala192ProfsTer?) c.580del (p.Ala194ProfsTer?) c.64del (p.Ala22ProfsTer?) n.826del | gnomAD v4 |
1 | g.154571397G>A | CA342630384 | CHRNB2 | c.574G>A (p.Ala192Thr) c.580G>A (p.Ala194Thr) c.64G>A (p.Ala22Thr) n.826G>A | |
1 | g.154571397G>C | CA342630385 | CHRNB2 | c.574G>C (p.Ala192Pro) c.580G>C (p.Ala194Pro) c.64G>C (p.Ala22Pro) n.826G>C | |
1 | g.154571397G>T | CA342630386 | CHRNB2 | c.574G>T (p.Ala192Ser) c.580G>T (p.Ala194Ser) c.64G>T (p.Ala22Ser) n.826G>T | |
1 | g.154571398C>A | CA342630387 | CHRNB2 | c.575C>A (p.Ala192Asp) c.581C>A (p.Ala194Asp) c.65C>A (p.Ala22Asp) n.827C>A | |
1 | g.154571398C>G | CA342630388 | CHRNB2 | c.575C>G (p.Ala192Gly) c.581C>G (p.Ala194Gly) c.65C>G (p.Ala22Gly) n.827C>G | gnomAD v4 |
1 | g.154571398C>T | CA342630389 | CHRNB2 | c.575C>T (p.Ala192Val) c.581C>T (p.Ala194Val) c.65C>T (p.Ala22Val) n.827C>T | |
1 | g.154571399C>A | CA421231013 | CHRNB2 | c.576C>A (p.Ala192=) c.582C>A (p.Ala194=) c.66C>A (p.Ala22=) n.828C>A | |
1 | g.154571399C>G | CA421231014 | CHRNB2 | c.576C>G (p.Ala192=) c.582C>G (p.Ala194=) c.66C>G (p.Ala22=) n.828C>G | |
1 | g.154571399C>T | CA421231015 | CHRNB2 | c.576C>T (p.Ala192=) c.582C>T (p.Ala194=) c.66C>T (p.Ala22=) n.828C>T | gnomAD v4 |
1 | g.154571400A>C | CA342630390 | CHRNB2 | c.577A>C (p.Ser193Arg) c.583A>C (p.Ser195Arg) c.67A>C (p.Ser23Arg) n.829A>C | |
1 | g.154571400A>G | CA342630391 | CHRNB2 | c.577A>G (p.Ser193Gly) c.583A>G (p.Ser195Gly) c.67A>G (p.Ser23Gly) n.829A>G | gnomAD v4 |
1 | g.154571400A>T | CA342630392 | CHRNB2 | c.577A>T (p.Ser193Cys) c.583A>T (p.Ser195Cys) c.67A>T (p.Ser23Cys) n.829A>T | gnomAD v4 |
1 | g.154571401G>A | CA342630394 | CHRNB2 | c.578G>A (p.Ser193Asn) c.584G>A (p.Ser195Asn) c.68G>A (p.Ser23Asn) n.830G>A | |
1 | g.154571401G>C | CA342630395 | CHRNB2 | c.578G>C (p.Ser193Thr) c.584G>C (p.Ser195Thr) c.68G>C (p.Ser23Thr) n.830G>C | |
1 | g.154571401G>T | CA342630393 | CHRNB2 | c.578G>T (p.Ser193Ile) c.584G>T (p.Ser195Ile) c.68G>T (p.Ser23Ile) n.830G>T | ClinVar dbSNP |
1 | g.154571402C>A | CA342630397 | CHRNB2 | c.579C>A (p.Ser193Arg) c.585C>A (p.Ser195Arg) c.69C>A (p.Ser23Arg) n.831C>A | |
1 | g.154571402C>G | CA342630396 | CHRNB2 | c.579C>G (p.Ser193Arg) c.585C>G (p.Ser195Arg) c.69C>G (p.Ser23Arg) n.831C>G | |
1 | g.154571402C>T | CA421231022 | CHRNB2 | c.579C>T (p.Ser193=) c.585C>T (p.Ser195=) c.69C>T (p.Ser23=) n.831C>T | |
1 | g.154571403C>A | CA342630398 | CHRNB2 | c.580C>A (p.Leu194Met) c.586C>A (p.Leu196Met) c.70C>A (p.Leu24Met) n.832C>A | COSMIC |
1 | g.154571403C= | CA2480925246 | CHRNB2 | c.580C= (p.Leu194=) c.586C= (p.Leu196=) c.70C= (p.Leu24=) n.832C= | |
1 | g.154571403C>G | CA342630399 | CHRNB2 | c.580C>G (p.Leu194Val) c.586C>G (p.Leu196Val) c.70C>G (p.Leu24Val) n.832C>G | dbSNP |
1 | g.154571403C>T | CA421231025 | CHRNB2 | c.580C>T (p.Leu194=) c.586C>T (p.Leu196=) c.70C>T (p.Leu24=) n.832C>T | gnomAD v4 |
1 | g.154571404T>A | CA342630400 | CHRNB2 | c.581T>A (p.Leu194Gln) c.587T>A (p.Leu196Gln) c.71T>A (p.Leu24Gln) n.833T>A | |
1 | g.154571404T>C | CA342630401 | CHRNB2 | c.581T>C (p.Leu194Pro) c.587T>C (p.Leu196Pro) c.71T>C (p.Leu24Pro) n.833T>C | |
1 | g.154571404T>G | CA342630402 | CHRNB2 | c.581T>G (p.Leu194Arg) c.587T>G (p.Leu196Arg) c.71T>G (p.Leu24Arg) n.833T>G | |
1 | g.154571405G>A | CA421231026 | CHRNB2 | c.582G>A (p.Leu194=) c.588G>A (p.Leu196=) c.72G>A (p.Leu24=) n.834G>A | |
1 | g.154571405G>C | CA421231027 | CHRNB2 | c.582G>C (p.Leu194=) c.588G>C (p.Leu196=) c.72G>C (p.Leu24=) n.834G>C | |
1 | g.154571405G>T | CA421231029 | CHRNB2 | c.582G>T (p.Leu194=) c.588G>T (p.Leu196=) c.72G>T (p.Leu24=) n.834G>T | |
1 | g.154571406G>A | CA342630403 | CHRNB2 | c.583G>A (p.Asp195Asn) c.589G>A (p.Asp197Asn) c.73G>A (p.Asp25Asn) n.835G>A | |
1 | g.154571406G>C | CA342630404 | CHRNB2 | c.583G>C (p.Asp195His) c.589G>C (p.Asp197His) c.73G>C (p.Asp25His) n.835G>C | |
1 | g.154571406G>T | CA342630405 | CHRNB2 | c.583G>T (p.Asp195Tyr) c.589G>T (p.Asp197Tyr) c.73G>T (p.Asp25Tyr) n.835G>T | |
1 | g.154571409_154571411del | CA2573914294 | CHRNB2 | c.586_588del (p.Asp196del) c.592_594del (p.Asp198del) c.76_78del (p.Asp26del) n.838_840del | |
1 | g.154571407A>C | CA342630406 | CHRNB2 | c.584A>C (p.Asp195Ala) c.590A>C (p.Asp197Ala) c.74A>C (p.Asp25Ala) n.836A>C | |
1 | g.154571407A>G | CA342630407 | CHRNB2 | c.584A>G (p.Asp195Gly) c.590A>G (p.Asp197Gly) c.74A>G (p.Asp25Gly) n.836A>G | |
1 | g.154571407A>T | CA342630408 | CHRNB2 | c.584A>T (p.Asp195Val) c.590A>T (p.Asp197Val) c.74A>T (p.Asp25Val) n.836A>T | |
1 | g.154571408C>A | CA342630410 | CHRNB2 | c.585C>A (p.Asp195Glu) c.591C>A (p.Asp197Glu) c.75C>A (p.Asp25Glu) n.837C>A | |
1 | g.154571408C= | CA2480925247 | CHRNB2 | c.585C= (p.Asp195=) c.591C= (p.Asp197=) c.75C= (p.Asp25=) n.837C= | |
1 | g.154571408C>G | CA342630409 | CHRNB2 | c.585C>G (p.Asp195Glu) c.591C>G (p.Asp197Glu) c.75C>G (p.Asp25Glu) n.837C>G | |
1 | g.154571408C>T | CA1130745 | CHRNB2 | c.585C>T (p.Asp195=) c.591C>T (p.Asp197=) c.75C>T (p.Asp25=) n.837C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154571409G>A | CA342630411 | CHRNB2 | c.586G>A (p.Asp196Asn) c.592G>A (p.Asp198Asn) c.76G>A (p.Asp26Asn) n.838G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.154571409G>C | CA342630412 | CHRNB2 | c.586G>C (p.Asp196His) c.592G>C (p.Asp198His) c.76G>C (p.Asp26His) n.838G>C | |
1 | g.154571409G= | CA2480925248 | CHRNB2 | c.586G= (p.Asp196=) c.592G= (p.Asp198=) c.76G= (p.Asp26=) n.838G= | |
1 | g.154571409G>T | CA342630413 | CHRNB2 | c.586G>T (p.Asp196Tyr) c.592G>T (p.Asp198Tyr) c.76G>T (p.Asp26Tyr) n.838G>T | COSMIC |
1 | g.154571410A>C | CA342630414 | CHRNB2 | c.587A>C (p.Asp196Ala) c.593A>C (p.Asp198Ala) c.77A>C (p.Asp26Ala) n.839A>C | |
1 | g.154571410A>G | CA342630415 | CHRNB2 | c.587A>G (p.Asp196Gly) c.593A>G (p.Asp198Gly) c.77A>G (p.Asp26Gly) n.839A>G | |
1 | g.154571410A>T | CA342630416 | CHRNB2 | c.587A>T (p.Asp196Val) c.593A>T (p.Asp198Val) c.77A>T (p.Asp26Val) n.839A>T | |
1 | g.154571411C>A | CA342630417 | CHRNB2 | c.588C>A (p.Asp196Glu) c.594C>A (p.Asp198Glu) c.78C>A (p.Asp26Glu) n.840C>A | |
1 | g.154571411C>G | CA342630418 | CHRNB2 | c.588C>G (p.Asp196Glu) c.594C>G (p.Asp198Glu) c.78C>G (p.Asp26Glu) n.840C>G | |
1 | g.154571411C>T | CA421231040 | CHRNB2 | c.588C>T (p.Asp196=) c.594C>T (p.Asp198=) c.78C>T (p.Asp26=) n.840C>T | |
1 | g.154571412T>A | CA342630419 | CHRNB2 | c.589T>A (p.Phe197Ile) c.595T>A (p.Phe199Ile) c.79T>A (p.Phe27Ile) n.841T>A | |
1 | g.154571412T>C | CA342630420 | CHRNB2 | c.589T>C (p.Phe197Leu) c.595T>C (p.Phe199Leu) c.79T>C (p.Phe27Leu) n.841T>C | |
1 | g.154571412T>G | CA342630421 | CHRNB2 | c.589T>G (p.Phe197Val) c.595T>G (p.Phe199Val) c.79T>G (p.Phe27Val) n.841T>G | |
1 | g.154571413T>A | CA342630423 | CHRNB2 | c.590T>A (p.Phe197Tyr) c.596T>A (p.Phe199Tyr) c.80T>A (p.Phe27Tyr) n.842T>A | |
1 | g.154571413T>C | CA342630424 | CHRNB2 | c.590T>C (p.Phe197Ser) c.596T>C (p.Phe199Ser) c.80T>C (p.Phe27Ser) n.842T>C | dbSNP |
1 | g.154571413T>G | CA342630422 | CHRNB2 | c.590T>G (p.Phe197Cys) c.596T>G (p.Phe199Cys) c.80T>G (p.Phe27Cys) n.842T>G | |
1 | g.154571414C>A | CA342630425 | CHRNB2 | c.591C>A (p.Phe197Leu) c.597C>A (p.Phe199Leu) c.81C>A (p.Phe27Leu) n.843C>A | |
1 | g.154571414C>G | CA342630426 | CHRNB2 | c.591C>G (p.Phe197Leu) c.597C>G (p.Phe199Leu) c.81C>G (p.Phe27Leu) n.843C>G | |
1 | g.154571414C>T | CA421231047 | CHRNB2 | c.591C>T (p.Phe197=) c.597C>T (p.Phe199=) c.81C>T (p.Phe27=) n.843C>T | gnomAD v4 |
1 | g.154571415A>C | CA342630427 | CHRNB2 | c.592A>C (p.Thr198Pro) c.598A>C (p.Thr200Pro) c.82A>C (p.Thr28Pro) n.844A>C | |
1 | g.154571415A>G | CA342630428 | CHRNB2 | c.592A>G (p.Thr198Ala) c.598A>G (p.Thr200Ala) c.82A>G (p.Thr28Ala) n.844A>G | gnomAD v4 |
1 | g.154571415A>T | CA342630429 | CHRNB2 | c.592A>T (p.Thr198Ser) c.598A>T (p.Thr200Ser) c.82A>T (p.Thr28Ser) n.844A>T | gnomAD v4 |
1 | g.154571416C>A | CA342630430 | CHRNB2 | c.593C>A (p.Thr198Lys) c.599C>A (p.Thr200Lys) c.83C>A (p.Thr28Lys) n.845C>A | |
1 | g.154571416C= | CA1143427474 | CHRNB2 | c.593C= (p.Thr198=) c.599C= (p.Thr200=) c.83C= (p.Thr28=) n.845C= | |
1 | g.154571416C>G | CA342630431 | CHRNB2 | c.593C>G (p.Thr198Arg) c.599C>G (p.Thr200Arg) c.83C>G (p.Thr28Arg) n.845C>G | |
1 | g.154571416C>T | CA30834216 | CHRNB2 | c.593C>T (p.Thr198Ile) c.599C>T (p.Thr200Ile) c.83C>T (p.Thr28Ile) n.845C>T | ClinVar dbSNP gnomAD v4 |
1 | g.154571417A= | CA1149154710 | CHRNB2 | c.594A= (p.Thr198=) c.600A= (p.Thr200=) c.84A= (p.Thr28=) n.846A= | |
1 | g.154571417A>C | CA421231054 | CHRNB2 | c.594A>C (p.Thr198=) c.600A>C (p.Thr200=) c.84A>C (p.Thr28=) n.846A>C | |
1 | g.154571417A>G | CA1130746 | CHRNB2 | c.594A>G (p.Thr198=) c.600A>G (p.Thr200=) c.84A>G (p.Thr28=) n.846A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571417A>T | CA421231056 | CHRNB2 | c.594A>T (p.Thr198=) c.600A>T (p.Thr200=) c.84A>T (p.Thr28=) n.846A>T | |
1 | g.154571418C>A | CA342630432 | CHRNB2 | c.595C>A (p.Pro199Thr) c.601C>A (p.Pro201Thr) c.85C>A (p.Pro29Thr) n.847C>A | |
1 | g.154571418C>G | CA342630433 | CHRNB2 | c.595C>G (p.Pro199Ala) c.601C>G (p.Pro201Ala) c.85C>G (p.Pro29Ala) n.847C>G | |
1 | g.154571418C>T | CA342630434 | CHRNB2 | c.595C>T (p.Pro199Ser) c.601C>T (p.Pro201Ser) c.85C>T (p.Pro29Ser) n.847C>T | |
1 | g.154571419C>A | CA342630436 | CHRNB2 | c.596C>A (p.Pro199His) c.602C>A (p.Pro201His) c.86C>A (p.Pro29His) n.848C>A | |
1 | g.154571419C>G | CA342630437 | CHRNB2 | c.596C>G (p.Pro199Arg) c.602C>G (p.Pro201Arg) c.86C>G (p.Pro29Arg) n.848C>G | |
1 | g.154571419C>T | CA342630435 | CHRNB2 | c.596C>T (p.Pro199Leu) c.602C>T (p.Pro201Leu) c.86C>T (p.Pro29Leu) n.848C>T | |
1 | g.154571420T>A | CA421231061 | CHRNB2 | c.597T>A (p.Pro199=) c.603T>A (p.Pro201=) c.87T>A (p.Pro29=) n.849T>A | |
1 | g.154571420T>C | CA421231063 | CHRNB2 | c.597T>C (p.Pro199=) c.603T>C (p.Pro201=) c.87T>C (p.Pro29=) n.849T>C | |
1 | g.154571420T>G | CA421231064 | CHRNB2 | c.597T>G (p.Pro199=) c.603T>G (p.Pro201=) c.87T>G (p.Pro29=) n.849T>G | |
1 | g.154571421A>C | CA342630438 | CHRNB2 | c.598A>C (p.Ser200Arg) c.604A>C (p.Ser202Arg) c.88A>C (p.Ser30Arg) n.850A>C | |
1 | g.154571421A>G | CA342630439 | CHRNB2 | c.598A>G (p.Ser200Gly) c.604A>G (p.Ser202Gly) c.88A>G (p.Ser30Gly) n.850A>G | |
1 | g.154571421A>T | CA342630440 | CHRNB2 | c.598A>T (p.Ser200Cys) c.604A>T (p.Ser202Cys) c.88A>T (p.Ser30Cys) n.850A>T | |
1 | g.154571422G>A | CA342630441 | CHRNB2 | c.599G>A (p.Ser200Asn) c.605G>A (p.Ser202Asn) c.89G>A (p.Ser30Asn) n.851G>A | ClinVar dbSNP gnomAD v4 |
1 | g.154571422G>C | CA1130747 | CHRNB2 | c.599G>C (p.Ser200Thr) c.605G>C (p.Ser202Thr) c.89G>C (p.Ser30Thr) n.851G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154571422G= | CA2480925249 | CHRNB2 | c.599G= (p.Ser200=) c.605G= (p.Ser202=) c.89G= (p.Ser30=) n.851G= | |
1 | g.154571422G>T | CA342630442 | CHRNB2 | c.599G>T (p.Ser200Ile) c.605G>T (p.Ser202Ile) c.89G>T (p.Ser30Ile) n.851G>T | |
1 | g.154571423T>A | CA342630444 | CHRNB2 | c.600T>A (p.Ser200Arg) c.606T>A (p.Ser202Arg) c.90T>A (p.Ser30Arg) n.852T>A | |
1 | g.154571423T>C | CA421231071 | CHRNB2 | c.600T>C (p.Ser200=) c.606T>C (p.Ser202=) c.90T>C (p.Ser30=) n.852T>C | dbSNP gnomAD v4 |
1 | g.154571423T>G | CA342630443 | CHRNB2 | c.600T>G (p.Ser200Arg) c.606T>G (p.Ser202Arg) c.90T>G (p.Ser30Arg) n.852T>G | |
1 | g.154571424G>A | CA342630445 | CHRNB2 | c.601G>A (p.Gly201Ser) c.607G>A (p.Gly203Ser) c.91G>A (p.Gly31Ser) n.853G>A | |
1 | g.154571424G>C | CA342630446 | CHRNB2 | c.601G>C (p.Gly201Arg) c.607G>C (p.Gly203Arg) c.91G>C (p.Gly31Arg) n.853G>C | |
1 | g.154571424G>T | CA342630447 | CHRNB2 | c.601G>T (p.Gly201Cys) c.607G>T (p.Gly203Cys) c.91G>T (p.Gly31Cys) n.853G>T | |
1 | g.154571425G>A | CA1130748 | CHRNB2 | c.602G>A (p.Gly201Asp) c.608G>A (p.Gly203Asp) c.92G>A (p.Gly31Asp) n.854G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154571425G>C | CA342630448 | CHRNB2 | c.602G>C (p.Gly201Ala) c.608G>C (p.Gly203Ala) c.92G>C (p.Gly31Ala) n.854G>C | |
1 | g.154571425G= | CA2480925250 | CHRNB2 | c.602G= (p.Gly201=) c.608G= (p.Gly203=) c.92G= (p.Gly31=) n.854G= | |
1 | g.154571425G>T | CA342630449 | CHRNB2 | c.602G>T (p.Gly201Val) c.608G>T (p.Gly203Val) c.92G>T (p.Gly31Val) n.854G>T | |
1 | g.154571426T>A | CA421231078 | CHRNB2 | c.603T>A (p.Gly201=) c.609T>A (p.Gly203=) c.93T>A (p.Gly31=) n.855T>A | |
1 | g.154571426T>C | CA421231081 | CHRNB2 | c.603T>C (p.Gly201=) c.609T>C (p.Gly203=) c.93T>C (p.Gly31=) n.855T>C | COSMIC |
1 | g.154571426T>G | CA421231082 | CHRNB2 | c.603T>G (p.Gly201=) c.609T>G (p.Gly203=) c.93T>G (p.Gly31=) n.855T>G | |
1 | g.154571427G>A | CA342630452 | CHRNB2 | c.604G>A (p.Glu202Lys) c.610G>A (p.Glu204Lys) c.94G>A (p.Glu32Lys) n.856G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571427G>C | CA342630451 | CHRNB2 | c.604G>C (p.Glu202Gln) c.610G>C (p.Glu204Gln) c.94G>C (p.Glu32Gln) n.856G>C | |
1 | g.154571427G= | CA2480925251 | CHRNB2 | c.604G= (p.Glu202=) c.610G= (p.Glu204=) c.94G= (p.Glu32=) n.856G= | |
1 | g.154571427G>T | CA342630450 | CHRNB2 | c.604G>T (p.Glu202Ter) c.610G>T (p.Glu204Ter) c.94G>T (p.Glu32Ter) n.856G>T | |
1 | g.154571428A>C | CA342630453 | CHRNB2 | c.605A>C (p.Glu202Ala) c.611A>C (p.Glu204Ala) c.95A>C (p.Glu32Ala) n.857A>C | |
1 | g.154571428A>G | CA342630455 | CHRNB2 | c.605A>G (p.Glu202Gly) c.611A>G (p.Glu204Gly) c.95A>G (p.Glu32Gly) n.857A>G | gnomAD v4 |
1 | g.154571428A>T | CA342630454 | CHRNB2 | c.605A>T (p.Glu202Val) c.611A>T (p.Glu204Val) c.95A>T (p.Glu32Val) n.857A>T | |
1 | g.154571429G>A | CA421231083 | CHRNB2 | c.606G>A (p.Glu202=) c.612G>A (p.Glu204=) c.96G>A (p.Glu32=) n.858G>A | |
1 | g.154571429G>C | CA342630456 | CHRNB2 | c.606G>C (p.Glu202Asp) c.612G>C (p.Glu204Asp) c.96G>C (p.Glu32Asp) n.858G>C | dbSNP gnomAD v3 gnomAD v4 |
1 | g.154571429G= | CA2480925252 | CHRNB2 | c.606G= (p.Glu202=) c.612G= (p.Glu204=) c.96G= (p.Glu32=) n.858G= | |
1 | g.154571429G>T | CA342630457 | CHRNB2 | c.606G>T (p.Glu202Asp) c.612G>T (p.Glu204Asp) c.96G>T (p.Glu32Asp) n.858G>T | |
1 | g.154571430T>A | CA342630458 | CHRNB2 | c.607T>A (p.Trp203Arg) c.613T>A (p.Trp205Arg) c.97T>A (p.Trp33Arg) n.859T>A | |
1 | g.154571430T>C | CA342630460 | CHRNB2 | c.607T>C (p.Trp203Arg) c.613T>C (p.Trp205Arg) c.97T>C (p.Trp33Arg) n.859T>C | |
1 | g.154571430T>G | CA342630459 | CHRNB2 | c.607T>G (p.Trp203Gly) c.613T>G (p.Trp205Gly) c.97T>G (p.Trp33Gly) n.859T>G | |
1 | g.154571431G>A | CA342630461 | CHRNB2 | c.608G>A (p.Trp203Ter) c.614G>A (p.Trp205Ter) c.98G>A (p.Trp33Ter) n.860G>A | gnomAD v4 |
1 | g.154571431G>C | CA342630462 | CHRNB2 | c.608G>C (p.Trp203Ser) c.614G>C (p.Trp205Ser) c.98G>C (p.Trp33Ser) n.860G>C | |
1 | g.154571431G>T | CA342630463 | CHRNB2 | c.608G>T (p.Trp203Leu) c.614G>T (p.Trp205Leu) c.98G>T (p.Trp33Leu) n.860G>T | |
1 | g.154571432G>A | CA342630464 | CHRNB2 | c.609G>A (p.Trp203Ter) c.615G>A (p.Trp205Ter) c.99G>A (p.Trp33Ter) n.861G>A | |
1 | g.154571432G>C | CA342630465 | CHRNB2 | c.609G>C (p.Trp203Cys) c.615G>C (p.Trp205Cys) c.99G>C (p.Trp33Cys) n.861G>C | |
1 | g.154571432G>T | CA342630466 | CHRNB2 | c.609G>T (p.Trp203Cys) c.615G>T (p.Trp205Cys) c.99G>T (p.Trp33Cys) n.861G>T | |
1 | g.154571433G>A | CA342630467 | CHRNB2 | c.610G>A (p.Asp204Asn) c.616G>A (p.Asp206Asn) c.100G>A (p.Asp34Asn) n.862G>A | |
1 | g.154571433G>C | CA342630468 | CHRNB2 | c.610G>C (p.Asp204His) c.616G>C (p.Asp206His) c.100G>C (p.Asp34His) n.862G>C | |
1 | g.154571433G>T | CA342630469 | CHRNB2 | c.610G>T (p.Asp204Tyr) c.616G>T (p.Asp206Tyr) c.100G>T (p.Asp34Tyr) n.862G>T | |
1 | g.154571434A>C | CA342630470 | CHRNB2 | c.611A>C (p.Asp204Ala) c.617A>C (p.Asp206Ala) c.101A>C (p.Asp34Ala) n.863A>C | |
1 | g.154571434A>G | CA342630471 | CHRNB2 | c.611A>G (p.Asp204Gly) c.617A>G (p.Asp206Gly) c.101A>G (p.Asp34Gly) n.863A>G | |
1 | g.154571434A>T | CA342630472 | CHRNB2 | c.611A>T (p.Asp204Val) c.617A>T (p.Asp206Val) c.101A>T (p.Asp34Val) n.863A>T | |
1 | g.154571435C>A | CA342630474 | CHRNB2 | c.612C>A (p.Asp204Glu) c.618C>A (p.Asp206Glu) c.102C>A (p.Asp34Glu) n.864C>A | |
1 | g.154571435C>G | CA342630473 | CHRNB2 | c.612C>G (p.Asp204Glu) c.618C>G (p.Asp206Glu) c.102C>G (p.Asp34Glu) n.864C>G | |
1 | g.154571435C>T | CA421231102 | CHRNB2 | c.612C>T (p.Asp204=) c.618C>T (p.Asp206=) c.102C>T (p.Asp34=) n.864C>T | |
1 | g.154571436A= | CA1147397697 | CHRNB2 | c.613A= (p.Ile205=) c.619A= (p.Ile207=) c.103A= (p.Ile35=) n.865A= | |
1 | g.154571436A>C | CA342630475 | CHRNB2 | c.613A>C (p.Ile205Leu) c.619A>C (p.Ile207Leu) c.103A>C (p.Ile35Leu) n.865A>C | |
1 | g.154571436A>G | CA1130749 | CHRNB2 | c.613A>G (p.Ile205Val) c.619A>G (p.Ile207Val) c.103A>G (p.Ile35Val) n.865A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571436A>T | CA342630476 | CHRNB2 | c.613A>T (p.Ile205Phe) c.619A>T (p.Ile207Phe) c.103A>T (p.Ile35Phe) n.865A>T | |
1 | g.154571437T>A | CA342630477 | CHRNB2 | c.614T>A (p.Ile205Asn) c.620T>A (p.Ile207Asn) c.104T>A (p.Ile35Asn) n.866T>A | gnomAD v4 |
1 | g.154571437T>C | CA342630478 | CHRNB2 | c.614T>C (p.Ile205Thr) c.620T>C (p.Ile207Thr) c.104T>C (p.Ile35Thr) n.866T>C | |
1 | g.154571437T>G | CA342630479 | CHRNB2 | c.614T>G (p.Ile205Ser) c.620T>G (p.Ile207Ser) c.104T>G (p.Ile35Ser) n.866T>G | |
1 | g.154571438C>A | CA421231122 | CHRNB2 | c.615C>A (p.Ile205=) c.621C>A (p.Ile207=) c.105C>A (p.Ile35=) n.867C>A | |
1 | g.154571438C= | CA1143535426 | CHRNB2 | c.615C= (p.Ile205=) c.621C= (p.Ile207=) c.105C= (p.Ile35=) n.867C= | |
1 | g.154571438C>G | CA30834237 | CHRNB2 | c.615C>G (p.Ile205Met) c.621C>G (p.Ile207Met) c.105C>G (p.Ile35Met) n.867C>G | dbSNP gnomAD v4 |
1 | g.154571438C>T | CA1130750 | CHRNB2 | c.615C>T (p.Ile205=) c.621C>T (p.Ile207=) c.105C>T (p.Ile35=) n.867C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571439G>A | CA342630480 | CHRNB2 | c.616G>A (p.Val206Met) c.622G>A (p.Val208Met) c.106G>A (p.Val36Met) n.868G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.154571439G>C | CA342630481 | CHRNB2 | c.616G>C (p.Val206Leu) c.622G>C (p.Val208Leu) c.106G>C (p.Val36Leu) n.868G>C | |
1 | g.154571439G= | CA2480925253 | CHRNB2 | c.616G= (p.Val206=) c.622G= (p.Val208=) c.106G= (p.Val36=) n.868G= | |
1 | g.154571439G>T | CA342630482 | CHRNB2 | c.616G>T (p.Val206Leu) c.622G>T (p.Val208Leu) c.106G>T (p.Val36Leu) n.868G>T | |
1 | g.154571440T>A | CA342630485 | CHRNB2 | c.617T>A (p.Val206Glu) c.623T>A (p.Val208Glu) c.107T>A (p.Val36Glu) n.869T>A | |
1 | g.154571440T>C | CA342630484 | CHRNB2 | c.617T>C (p.Val206Ala) c.623T>C (p.Val208Ala) c.107T>C (p.Val36Ala) n.869T>C | |
1 | g.154571440T>G | CA342630483 | CHRNB2 | c.617T>G (p.Val206Gly) c.623T>G (p.Val208Gly) c.107T>G (p.Val36Gly) n.869T>G | |
1 | g.154571441G>A | CA421231128 | CHRNB2 | c.618G>A (p.Val206=) c.624G>A (p.Val208=) c.108G>A (p.Val36=) n.870G>A | |
1 | g.154571441G>C | CA421231129 | CHRNB2 | c.618G>C (p.Val206=) c.624G>C (p.Val208=) c.108G>C (p.Val36=) n.870G>C | |
1 | g.154571441G>T | CA421231130 | CHRNB2 | c.618G>T (p.Val206=) c.624G>T (p.Val208=) c.108G>T (p.Val36=) n.870G>T | |
1 | g.154571442G>A | CA342630486 | CHRNB2 | c.619G>A (p.Ala207Thr) c.625G>A (p.Ala209Thr) c.109G>A (p.Ala37Thr) n.871G>A | |
1 | g.154571442G>C | CA342630487 | CHRNB2 | c.619G>C (p.Ala207Pro) c.625G>C (p.Ala209Pro) c.109G>C (p.Ala37Pro) n.871G>C | |
1 | g.154571442G>T | CA342630488 | CHRNB2 | c.619G>T (p.Ala207Ser) c.625G>T (p.Ala209Ser) c.109G>T (p.Ala37Ser) n.871G>T | |
1 | g.154571443C>A | CA342630489 | CHRNB2 | c.620C>A (p.Ala207Glu) c.626C>A (p.Ala209Glu) c.110C>A (p.Ala37Glu) n.872C>A | |
1 | g.154571443C= | CA1143494582 | CHRNB2 | c.620C= (p.Ala207=) c.626C= (p.Ala209=) c.110C= (p.Ala37=) n.872C= | |
1 | g.154571443C>G | CA313653 | CHRNB2 | c.620C>G (p.Ala207Gly) c.626C>G (p.Ala209Gly) c.110C>G (p.Ala37Gly) n.872C>G | ClinVar dbSNP |
1 | g.154571443C>T | CA1130751 | CHRNB2 | c.620C>T (p.Ala207Val) c.626C>T (p.Ala209Val) c.110C>T (p.Ala37Val) n.872C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.154571444G>A | CA421231137 | CHRNB2 | c.621G>A (p.Ala207=) c.627G>A (p.Ala209=) c.111G>A (p.Ala37=) n.873G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571444G>C | CA421231135 | CHRNB2 | c.621G>C (p.Ala207=) c.627G>C (p.Ala209=) c.111G>C (p.Ala37=) n.873G>C | |
1 | g.154571444G= | CA2480925254 | CHRNB2 | c.621G= (p.Ala207=) c.627G= (p.Ala209=) c.111G= (p.Ala37=) n.873G= | |
1 | g.154571444G>T | CA421231136 | CHRNB2 | c.621G>T (p.Ala207=) c.627G>T (p.Ala209=) c.111G>T (p.Ala37=) n.873G>T | |
1 | g.154571445C>A | CA342630490 | CHRNB2 | c.622C>A (p.Leu208Met) c.628C>A (p.Leu210Met) c.112C>A (p.Leu38Met) n.874C>A | |
1 | g.154571445C= | CA2480925255 | CHRNB2 | c.622C= (p.Leu208=) c.628C= (p.Leu210=) c.112C= (p.Leu38=) n.874C= | |
1 | g.154571445C>G | CA342630491 | CHRNB2 | c.622C>G (p.Leu208Val) c.628C>G (p.Leu210Val) c.112C>G (p.Leu38Val) n.874C>G | |
1 | g.154571445C>T | CA30834260 | CHRNB2 | c.622C>T (p.Leu208=) c.628C>T (p.Leu210=) c.112C>T (p.Leu38=) n.874C>T | ClinVar dbSNP gnomAD v4 |
1 | g.154571446T>A | CA342630492 | CHRNB2 | c.623T>A (p.Leu208Gln) c.629T>A (p.Leu210Gln) c.113T>A (p.Leu38Gln) n.875T>A | |
1 | g.154571446T>C | CA342630493 | CHRNB2 | c.623T>C (p.Leu208Pro) c.629T>C (p.Leu210Pro) c.113T>C (p.Leu38Pro) n.875T>C | |
1 | g.154571446T>G | CA342630494 | CHRNB2 | c.623T>G (p.Leu208Arg) c.629T>G (p.Leu210Arg) c.113T>G (p.Leu38Arg) n.875T>G | |
1 | g.154571447G>A | CA421231149 | CHRNB2 | c.624G>A (p.Leu208=) c.630G>A (p.Leu210=) c.114G>A (p.Leu38=) n.876G>A | gnomAD v4 |
1 | g.154571447G>C | CA421231151 | CHRNB2 | c.624G>C (p.Leu208=) c.630G>C (p.Leu210=) c.114G>C (p.Leu38=) n.876G>C | |
1 | g.154571447G>T | CA421231153 | CHRNB2 | c.624G>T (p.Leu208=) c.630G>T (p.Leu210=) c.114G>T (p.Leu38=) n.876G>T | |
1 | g.154571448C>A | CA342630497 | CHRNB2 | c.625C>A (p.Pro209Thr) c.631C>A (p.Pro211Thr) c.115C>A (p.Pro39Thr) n.877C>A | |
1 | g.154571448C>G | CA342630496 | CHRNB2 | c.625C>G (p.Pro209Ala) c.631C>G (p.Pro211Ala) c.115C>G (p.Pro39Ala) n.877C>G | |
1 | g.154571448C>T | CA342630495 | CHRNB2 | c.625C>T (p.Pro209Ser) c.631C>T (p.Pro211Ser) c.115C>T (p.Pro39Ser) n.877C>T | |
1 | g.154571449C>A | CA342630498 | CHRNB2 | c.626C>A (p.Pro209Gln) c.632C>A (p.Pro211Gln) c.116C>A (p.Pro39Gln) n.878C>A | |
1 | g.154571449C= | CA2480925256 | CHRNB2 | c.626C= (p.Pro209=) c.632C= (p.Pro211=) c.116C= (p.Pro39=) n.878C= | |
1 | g.154571449C>G | CA342630499 | CHRNB2 | c.626C>G (p.Pro209Arg) c.632C>G (p.Pro211Arg) c.116C>G (p.Pro39Arg) n.878C>G | gnomAD v4 |
1 | g.154571449C>T | CA30834265 | CHRNB2 | c.626C>T (p.Pro209Leu) c.632C>T (p.Pro211Leu) c.116C>T (p.Pro39Leu) n.878C>T | ClinVar dbSNP gnomAD v4 COSMIC |
1 | g.154571451_154571458del | CA2648170004 | CHRNB2 | c.628_635del (p.Gly210GlnfsTer15) c.634_641del (p.Gly212GlnfsTer15) c.118_125del (p.Gly40GlnfsTer15) n.880_887del | gnomAD v4 |
1 | g.154571450G>A | CA1130752 | CHRNB2 | c.627G>A (p.Pro209=) c.633G>A (p.Pro211=) c.117G>A (p.Pro39=) n.879G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571450G>C | CA421231160 | CHRNB2 | c.627G>C (p.Pro209=) c.633G>C (p.Pro211=) c.117G>C (p.Pro39=) n.879G>C | |
1 | g.154571450G= | CA2480925257 | CHRNB2 | c.627G= (p.Pro209=) c.633G= (p.Pro211=) c.117G= (p.Pro39=) n.879G= | |
1 | g.154571450G>T | CA421231162 | CHRNB2 | c.627G>T (p.Pro209=) c.633G>T (p.Pro211=) c.117G>T (p.Pro39=) n.879G>T | |
1 | g.154571451G>A | CA342630500 | CHRNB2 | c.628G>A (p.Gly210Ser) c.634G>A (p.Gly212Ser) c.118G>A (p.Gly40Ser) n.880G>A | |
1 | g.154571451G>C | CA342630501 | CHRNB2 | c.628G>C (p.Gly210Arg) c.634G>C (p.Gly212Arg) c.118G>C (p.Gly40Arg) n.880G>C | |
1 | g.154571451G>T | CA342630502 | CHRNB2 | c.628G>T (p.Gly210Cys) c.634G>T (p.Gly212Cys) c.118G>T (p.Gly40Cys) n.880G>T | |
1 | g.154571452G>A | CA342630503 | CHRNB2 | c.629G>A (p.Gly210Asp) c.635G>A (p.Gly212Asp) c.119G>A (p.Gly40Asp) n.881G>A | |
1 | g.154571452G>C | CA342630504 | CHRNB2 | c.629G>C (p.Gly210Ala) c.635G>C (p.Gly212Ala) c.119G>C (p.Gly40Ala) n.881G>C | |
1 | g.154571452G>T | CA342630505 | CHRNB2 | c.629G>T (p.Gly210Val) c.635G>T (p.Gly212Val) c.119G>T (p.Gly40Val) n.881G>T | |
1 | g.154571453C>A | CA421231169 | CHRNB2 | c.630C>A (p.Gly210=) c.636C>A (p.Gly212=) c.120C>A (p.Gly40=) n.882C>A | |
1 | g.154571453C>G | CA421231170 | CHRNB2 | c.630C>G (p.Gly210=) c.636C>G (p.Gly212=) c.120C>G (p.Gly40=) n.882C>G | |
1 | g.154571453C>T | CA421231171 | CHRNB2 | c.630C>T (p.Gly210=) c.636C>T (p.Gly212=) c.120C>T (p.Gly40=) n.882C>T | |
1 | g.154571454C>A | CA421231173 | CHRNB2 | c.631C>A (p.Arg211=) c.637C>A (p.Arg213=) c.121C>A (p.Arg41=) n.883C>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.154571454C= | CA1143396276 | CHRNB2 | c.631C= (p.Arg211=) c.637C= (p.Arg213=) c.121C= (p.Arg41=) n.883C= | |
1 | g.154571454C>G | CA342630506 | CHRNB2 | c.631C>G (p.Arg211Gly) c.637C>G (p.Arg213Gly) c.121C>G (p.Arg41Gly) n.883C>G | |
1 | g.154571454C>T | CA1130753 | CHRNB2 | c.631C>T (p.Arg211Trp) c.637C>T (p.Arg213Trp) c.121C>T (p.Arg41Trp) n.883C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571455G>A | CA342630509 | CHRNB2 | c.632G>A (p.Arg211Gln) c.638G>A (p.Arg213Gln) c.122G>A (p.Arg41Gln) n.884G>A | ClinVar dbSNP gnomAD v4 |
1 | g.154571455G>C | CA342630508 | CHRNB2 | c.632G>C (p.Arg211Pro) c.638G>C (p.Arg213Pro) c.122G>C (p.Arg41Pro) n.884G>C | |
1 | g.154571455G= | CA2480925258 | CHRNB2 | c.632G= (p.Arg211=) c.638G= (p.Arg213=) c.122G= (p.Arg41=) n.884G= | |
1 | g.154571455G>T | CA342630507 | CHRNB2 | c.632G>T (p.Arg211Leu) c.638G>T (p.Arg213Leu) c.122G>T (p.Arg41Leu) n.884G>T | |
1 | g.154571456G>A | CA421231176 | CHRNB2 | c.633G>A (p.Arg211=) c.639G>A (p.Arg213=) c.123G>A (p.Arg41=) n.885G>A | |
1 | g.154571456G>C | CA421231177 | CHRNB2 | c.633G>C (p.Arg211=) c.639G>C (p.Arg213=) c.123G>C (p.Arg41=) n.885G>C | gnomAD v4 |
1 | g.154571456G>T | CA421231183 | CHRNB2 | c.633G>T (p.Arg211=) c.639G>T (p.Arg213=) c.123G>T (p.Arg41=) n.885G>T | |
1 | g.154571457C>A | CA342630510 | CHRNB2 | c.634C>A (p.Arg212Ser) c.640C>A (p.Arg214Ser) c.124C>A (p.Arg42Ser) n.886C>A | |
1 | g.154571457C= | CA1147690155 | CHRNB2 | c.634C= (p.Arg212=) c.640C= (p.Arg214=) c.124C= (p.Arg42=) n.886C= | |
1 | g.154571457C>G | CA342630511 | CHRNB2 | c.634C>G (p.Arg212Gly) c.640C>G (p.Arg214Gly) c.124C>G (p.Arg42Gly) n.886C>G | gnomAD v4 |
1 | g.154571457C>T | CA1130754 | CHRNB2 | c.634C>T (p.Arg212Cys) c.640C>T (p.Arg214Cys) c.124C>T (p.Arg42Cys) n.886C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571458G>A | CA1130755 | CHRNB2 | c.635G>A (p.Arg212His) c.641G>A (p.Arg214His) c.125G>A (p.Arg42His) n.887G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571458G>C | CA342630512 | CHRNB2 | c.635G>C (p.Arg212Pro) c.641G>C (p.Arg214Pro) c.125G>C (p.Arg42Pro) n.887G>C | |
1 | g.154571458G= | CA1149111108 | CHRNB2 | c.635G= (p.Arg212=) c.641G= (p.Arg214=) c.125G= (p.Arg42=) n.887G= | |
1 | g.154571458G>T | CA342630513 | CHRNB2 | c.635G>T (p.Arg212Leu) c.641G>T (p.Arg214Leu) c.125G>T (p.Arg42Leu) n.887G>T | |
1 | g.154571459C>A | CA421231186 | CHRNB2 | c.636C>A (p.Arg212=) c.642C>A (p.Arg214=) c.126C>A (p.Arg42=) n.888C>A | |
1 | g.154571459C>G | CA421231188 | CHRNB2 | c.636C>G (p.Arg212=) c.642C>G (p.Arg214=) c.126C>G (p.Arg42=) n.888C>G | |
1 | g.154571459C>T | CA421231190 | CHRNB2 | c.636C>T (p.Arg212=) c.642C>T (p.Arg214=) c.126C>T (p.Arg42=) n.888C>T | gnomAD v4 |
1 | g.154571460A>C | CA342630514 | CHRNB2 | c.637A>C (p.Asn213His) c.643A>C (p.Asn215His) c.127A>C (p.Asn43His) n.889A>C | gnomAD v4 |
1 | g.154571460A>G | CA342630515 | CHRNB2 | c.637A>G (p.Asn213Asp) c.643A>G (p.Asn215Asp) c.127A>G (p.Asn43Asp) n.889A>G | |
1 | g.154571460A>T | CA342630516 | CHRNB2 | c.637A>T (p.Asn213Tyr) c.643A>T (p.Asn215Tyr) c.127A>T (p.Asn43Tyr) n.889A>T | |
1 | g.154571461A>C | CA342630517 | CHRNB2 | c.638A>C (p.Asn213Thr) c.644A>C (p.Asn215Thr) c.128A>C (p.Asn43Thr) n.890A>C | |
1 | g.154571461A>G | CA342630518 | CHRNB2 | c.638A>G (p.Asn213Ser) c.644A>G (p.Asn215Ser) c.128A>G (p.Asn43Ser) n.890A>G | gnomAD v4 |
1 | g.154571461A>T | CA342630519 | CHRNB2 | c.638A>T (p.Asn213Ile) c.644A>T (p.Asn215Ile) c.128A>T (p.Asn43Ile) n.890A>T | |
1 | g.154571462C>A | CA342630520 | CHRNB2 | c.639C>A (p.Asn213Lys) c.645C>A (p.Asn215Lys) c.129C>A (p.Asn43Lys) n.891C>A | |
1 | g.154571462C= | CA2480925259 | CHRNB2 | c.639C= (p.Asn213=) c.645C= (p.Asn215=) c.129C= (p.Asn43=) n.891C= | |
1 | g.154571462C>G | CA342630521 | CHRNB2 | c.639C>G (p.Asn213Lys) c.645C>G (p.Asn215Lys) c.129C>G (p.Asn43Lys) n.891C>G | gnomAD v4 |
1 | g.154571462C>T | CA1130756 | CHRNB2 | c.639C>T (p.Asn213=) c.645C>T (p.Asn215=) c.129C>T (p.Asn43=) n.891C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.154571463G>A | CA313655 | CHRNB2 | c.640G>A (p.Glu214Lys) c.646G>A (p.Glu216Lys) c.130G>A (p.Glu44Lys) n.892G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571463G>C | CA342630522 | CHRNB2 | c.640G>C (p.Glu214Gln) c.646G>C (p.Glu216Gln) c.130G>C (p.Glu44Gln) n.892G>C | ClinVar dbSNP |
1 | g.154571463G= | CA2480925260 | CHRNB2 | c.640G= (p.Glu214=) c.646G= (p.Glu216=) c.130G= (p.Glu44=) n.892G= | |
1 | g.154571463G>T | CA342630523 | CHRNB2 | c.640G>T (p.Glu214Ter) c.646G>T (p.Glu216Ter) c.130G>T (p.Glu44Ter) n.892G>T | |
1 | g.154571464A>C | CA342630524 | CHRNB2 | c.641A>C (p.Glu214Ala) c.647A>C (p.Glu216Ala) c.131A>C (p.Glu44Ala) n.893A>C | |
1 | g.154571464A>G | CA342630525 | CHRNB2 | c.641A>G (p.Glu214Gly) c.647A>G (p.Glu216Gly) c.131A>G (p.Glu44Gly) n.893A>G | |
1 | g.154571464A>T | CA342630526 | CHRNB2 | c.641A>T (p.Glu214Val) c.647A>T (p.Glu216Val) c.131A>T (p.Glu44Val) n.893A>T | |
1 | g.154571465G>A | CA421231206 | CHRNB2 | c.642G>A (p.Glu214=) c.648G>A (p.Glu216=) c.132G>A (p.Glu44=) n.894G>A | |
1 | g.154571465G>C | CA342630527 | CHRNB2 | c.642G>C (p.Glu214Asp) c.648G>C (p.Glu216Asp) c.132G>C (p.Glu44Asp) n.894G>C | gnomAD v4 |
1 | g.154571465G>T | CA342630528 | CHRNB2 | c.642G>T (p.Glu214Asp) c.648G>T (p.Glu216Asp) c.132G>T (p.Glu44Asp) n.894G>T | |
1 | g.154571466A>C | CA342630529 | CHRNB2 | c.643A>C (p.Asn215His) c.649A>C (p.Asn217His) c.133A>C (p.Asn45His) n.895A>C | |
1 | g.154571466A>G | CA342630530 | CHRNB2 | c.643A>G (p.Asn215Asp) c.649A>G (p.Asn217Asp) c.133A>G (p.Asn45Asp) n.895A>G | |
1 | g.154571466A>T | CA342630531 | CHRNB2 | c.643A>T (p.Asn215Tyr) c.649A>T (p.Asn217Tyr) c.133A>T (p.Asn45Tyr) n.895A>T | |
1 | g.154571467A= | CA2480925261 | CHRNB2 | c.644A= (p.Asn215=) c.650A= (p.Asn217=) c.134A= (p.Asn45=) n.896A= | |
1 | g.154571467A>C | CA342630532 | CHRNB2 | c.644A>C (p.Asn215Thr) c.650A>C (p.Asn217Thr) c.134A>C (p.Asn45Thr) n.896A>C | dbSNP gnomAD v4 |
1 | g.154571467A>G | CA342630533 | CHRNB2 | c.644A>G (p.Asn215Ser) c.650A>G (p.Asn217Ser) c.134A>G (p.Asn45Ser) n.896A>G | |
1 | g.154571467A>T | CA342630534 | CHRNB2 | c.644A>T (p.Asn215Ile) c.650A>T (p.Asn217Ile) c.134A>T (p.Asn45Ile) n.896A>T | |
1 | g.154571468C>A | CA342630535 | CHRNB2 | c.645C>A (p.Asn215Lys) c.651C>A (p.Asn217Lys) c.135C>A (p.Asn45Lys) n.897C>A | |
1 | g.154571468C>G | CA342630536 | CHRNB2 | c.645C>G (p.Asn215Lys) c.651C>G (p.Asn217Lys) c.135C>G (p.Asn45Lys) n.897C>G | |
1 | g.154571468C>T | CA421231216 | CHRNB2 | c.645C>T (p.Asn215=) c.651C>T (p.Asn217=) c.135C>T (p.Asn45=) n.897C>T | ClinVar |
1 | g.154571471dup | CA2648170054 | CHRNB2 | c.648dup (p.Asp217ArgfsTer11) c.654dup (p.Asp219ArgfsTer11) c.138dup (p.Asp47ArgfsTer11) n.900dup | gnomAD v4 |
1 | g.154571471del | CA2499214194 | CHRNB2 | c.648del (p.Asp217ThrfsTer?) c.654del (p.Asp219ThrfsTer?) c.138del (p.Asp47ThrfsTer?) n.900del | ClinVar dbSNP |
1 | g.154571469_154571471del | CA2648170056 | CHRNB2 | c.646_648del (p.Pro216del) c.652_654del (p.Pro218del) c.136_138del (p.Pro46del) n.898_900del | gnomAD v4 |
1 | g.154571469C>A | CA30834320 | CHRNB2 | c.646C>A (p.Pro216Thr) c.652C>A (p.Pro218Thr) c.136C>A (p.Pro46Thr) n.898C>A | dbSNP gnomAD v4 |
1 | g.154571469C= | CA1143440722 | CHRNB2 | c.646C= (p.Pro216=) c.652C= (p.Pro218=) c.136C= (p.Pro46=) n.898C= | |
1 | g.154571469C>G | CA342630537 | CHRNB2 | c.646C>G (p.Pro216Ala) c.652C>G (p.Pro218Ala) c.136C>G (p.Pro46Ala) n.898C>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.154571469C>T | CA1130757 | CHRNB2 | c.646C>T (p.Pro216Ser) c.652C>T (p.Pro218Ser) c.136C>T (p.Pro46Ser) n.898C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571469_154571470delinsCC | CA2480925262 | CHRNB2 | c.646_647delinsCC (p.Pro216=) c.652_653delinsCC (p.Pro218=) c.136_137delinsCC (p.Pro46=) n.898_899delinsCC | |
1 | g.154571469_154571470delinsTT | CA30834309 | CHRNB2 | c.646_647delinsTT (p.Pro216Phe) c.652_653delinsTT (p.Pro218Phe) c.136_137delinsTT (p.Pro46Phe) n.898_899delinsTT | dbSNP |
1 | g.154571470C>A | CA342630538 | CHRNB2 | c.647C>A (p.Pro216His) c.653C>A (p.Pro218His) c.137C>A (p.Pro46His) n.899C>A | |
1 | g.154571470C>G | CA342630539 | CHRNB2 | c.647C>G (p.Pro216Arg) c.653C>G (p.Pro218Arg) c.137C>G (p.Pro46Arg) n.899C>G | |
1 | g.154571470C>T | CA342630540 | CHRNB2 | c.647C>T (p.Pro216Leu) c.653C>T (p.Pro218Leu) c.137C>T (p.Pro46Leu) n.899C>T | |
1 | g.154571471C>A | CA421231220 | CHRNB2 | c.648C>A (p.Pro216=) c.654C>A (p.Pro218=) c.138C>A (p.Pro46=) n.900C>A | COSMIC |
1 | g.154571471C= | CA1143759580 | CHRNB2 | c.648C= (p.Pro216=) c.654C= (p.Pro218=) c.138C= (p.Pro46=) n.900C= | |
1 | g.154571471C>G | CA421231223 | CHRNB2 | c.648C>G (p.Pro216=) c.654C>G (p.Pro218=) c.138C>G (p.Pro46=) n.900C>G | ClinVar dbSNP gnomAD v4 |
1 | g.154571471C>T | CA1130758 | CHRNB2 | c.648C>T (p.Pro216=) c.654C>T (p.Pro218=) c.138C>T (p.Pro46=) n.900C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571472G>A | CA1130759 | CHRNB2 | c.649G>A (p.Asp217Asn) c.655G>A (p.Asp219Asn) c.139G>A (p.Asp47Asn) n.901G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571472G>C | CA342630541 | CHRNB2 | c.649G>C (p.Asp217His) c.655G>C (p.Asp219His) c.139G>C (p.Asp47His) n.901G>C | |
1 | g.154571472G= | CA2480925263 | CHRNB2 | c.649G= (p.Asp217=) c.655G= (p.Asp219=) c.139G= (p.Asp47=) n.901G= | |
1 | g.154571472G>T | CA342630542 | CHRNB2 | c.649G>T (p.Asp217Tyr) c.655G>T (p.Asp219Tyr) c.139G>T (p.Asp47Tyr) n.901G>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.154571473A>C | CA342630543 | CHRNB2 | c.650A>C (p.Asp217Ala) c.656A>C (p.Asp219Ala) c.140A>C (p.Asp47Ala) n.902A>C | |
1 | g.154571473A>G | CA342630544 | CHRNB2 | c.650A>G (p.Asp217Gly) c.656A>G (p.Asp219Gly) c.140A>G (p.Asp47Gly) n.902A>G | |
1 | g.154571473A>T | CA342630545 | CHRNB2 | c.650A>T (p.Asp217Val) c.656A>T (p.Asp219Val) c.140A>T (p.Asp47Val) n.902A>T | |
1 | g.154571476_154571483dup | CA2746189168 | CHRNB2 | c.653_660dup (p.Tyr221ThrfsTer?) c.659_666dup (p.Tyr223ThrfsTer?) c.143_150dup (p.Tyr51ThrfsTer?) n.905_912dup |