Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.127426189G>A | CA348401522 | PROC | c.640G>A (p.Asp214Asn) c.121-2168G>A c.742G>A (p.Asp248Asn) n.226G>A c.823G>A (p.Asp275Asn) c.805G>A (p.Asp269Asn) c.703G>A (p.Asp235Asn) c.883G>A (p.Asp295Asn) c.985G>A (p.Asp329Asn) c.925G>A (p.Asp309Asn) n.4396C>T c.808G>A (p.Asp270Asn) c.826G>A (p.Asp276Asn) c.583G>A (p.Asp195Asn) c.616G>A (p.Asp206Asn) c.634G>A (p.Asp212Asn) | gnomAD v4 |
2 | g.127426189G>C | CA348401523 | PROC | c.640G>C (p.Asp214His) c.121-2168G>C c.742G>C (p.Asp248His) n.226G>C c.823G>C (p.Asp275His) c.805G>C (p.Asp269His) c.703G>C (p.Asp235His) c.883G>C (p.Asp295His) c.985G>C (p.Asp329His) c.925G>C (p.Asp309His) n.4396C>G c.808G>C (p.Asp270His) c.826G>C (p.Asp276His) c.583G>C (p.Asp195His) c.616G>C (p.Asp206His) c.634G>C (p.Asp212His) | |
2 | g.127426189G>T | CA348401524 | PROC | c.640G>T (p.Asp214Tyr) c.121-2168G>T c.742G>T (p.Asp248Tyr) n.226G>T c.823G>T (p.Asp275Tyr) c.805G>T (p.Asp269Tyr) c.703G>T (p.Asp235Tyr) c.883G>T (p.Asp295Tyr) c.985G>T (p.Asp329Tyr) c.925G>T (p.Asp309Tyr) n.4396C>A c.808G>T (p.Asp270Tyr) c.826G>T (p.Asp276Tyr) c.583G>T (p.Asp195Tyr) c.616G>T (p.Asp206Tyr) c.634G>T (p.Asp212Tyr) | |
2 | g.127426190A>C | CA348401526 | PROC | c.641A>C (p.Asp214Ala) c.121-2167A>C c.743A>C (p.Asp248Ala) n.227A>C c.824A>C (p.Asp275Ala) c.806A>C (p.Asp269Ala) c.704A>C (p.Asp235Ala) c.884A>C (p.Asp295Ala) c.986A>C (p.Asp329Ala) c.926A>C (p.Asp309Ala) n.4395T>G c.809A>C (p.Asp270Ala) c.827A>C (p.Asp276Ala) c.584A>C (p.Asp195Ala) c.617A>C (p.Asp206Ala) c.635A>C (p.Asp212Ala) | gnomAD v4 |
2 | g.127426190A>G | CA348401527 | PROC | c.641A>G (p.Asp214Gly) c.121-2167A>G c.743A>G (p.Asp248Gly) n.227A>G c.824A>G (p.Asp275Gly) c.806A>G (p.Asp269Gly) c.704A>G (p.Asp235Gly) c.884A>G (p.Asp295Gly) c.986A>G (p.Asp329Gly) c.926A>G (p.Asp309Gly) n.4395T>C c.809A>G (p.Asp270Gly) c.827A>G (p.Asp276Gly) c.584A>G (p.Asp195Gly) c.617A>G (p.Asp206Gly) c.635A>G (p.Asp212Gly) | |
2 | g.127426190A>T | CA348401529 | PROC | c.641A>T (p.Asp214Val) c.121-2167A>T c.743A>T (p.Asp248Val) n.227A>T c.824A>T (p.Asp275Val) c.806A>T (p.Asp269Val) c.704A>T (p.Asp235Val) c.884A>T (p.Asp295Val) c.986A>T (p.Asp329Val) c.926A>T (p.Asp309Val) n.4395T>A c.809A>T (p.Asp270Val) c.827A>T (p.Asp276Val) c.584A>T (p.Asp195Val) c.617A>T (p.Asp206Val) c.635A>T (p.Asp212Val) | |
2 | g.127426191T>A | CA348401536 | PROC | c.642T>A (p.Asp214Glu) c.121-2166T>A c.744T>A (p.Asp248Glu) n.228T>A c.825T>A (p.Asp275Glu) c.807T>A (p.Asp269Glu) c.705T>A (p.Asp235Glu) c.885T>A (p.Asp295Glu) c.987T>A (p.Asp329Glu) c.927T>A (p.Asp309Glu) n.4394A>T c.810T>A (p.Asp270Glu) c.828T>A (p.Asp276Glu) c.585T>A (p.Asp195Glu) c.618T>A (p.Asp206Glu) c.636T>A (p.Asp212Glu) | |
2 | g.127426191T>C | CA1859403 | PROC | c.642T>C (p.Asp214=) c.121-2166T>C c.744T>C (p.Asp248=) n.228T>C c.825T>C (p.Asp275=) c.807T>C (p.Asp269=) c.705T>C (p.Asp235=) c.885T>C (p.Asp295=) c.987T>C (p.Asp329=) c.927T>C (p.Asp309=) n.4394A>G c.810T>C (p.Asp270=) c.828T>C (p.Asp276=) c.585T>C (p.Asp195=) c.618T>C (p.Asp206=) c.636T>C (p.Asp212=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127426191T>G | CA348401531 | PROC | c.642T>G (p.Asp214Glu) c.121-2166T>G c.744T>G (p.Asp248Glu) n.228T>G c.825T>G (p.Asp275Glu) c.807T>G (p.Asp269Glu) c.705T>G (p.Asp235Glu) c.885T>G (p.Asp295Glu) c.987T>G (p.Asp329Glu) c.927T>G (p.Asp309Glu) n.4394A>C c.810T>G (p.Asp270Glu) c.828T>G (p.Asp276Glu) c.585T>G (p.Asp195Glu) c.618T>G (p.Asp206Glu) c.636T>G (p.Asp212Glu) | |
2 | g.127426191T= | CA1286883445 | PROC | c.642T= (p.Asp214=) c.121-2166T= c.744T= (p.Asp248=) n.228T= c.825T= (p.Asp275=) c.807T= (p.Asp269=) c.705T= (p.Asp235=) c.885T= (p.Asp295=) c.987T= (p.Asp329=) c.927T= (p.Asp309=) n.4394A= c.810T= (p.Asp270=) c.828T= (p.Asp276=) c.585T= (p.Asp195=) c.618T= (p.Asp206=) c.636T= (p.Asp212=) | |
2 | g.127426192G>A | CA348401541 | PROC | c.643G>A (p.Gly215Arg) c.121-2165G>A c.745G>A (p.Gly249Arg) n.229G>A c.826G>A (p.Gly276Arg) c.808G>A (p.Gly270Arg) c.706G>A (p.Gly236Arg) c.886G>A (p.Gly296Arg) c.988G>A (p.Gly330Arg) c.928G>A (p.Gly310Arg) n.4393C>T c.811G>A (p.Gly271Arg) c.829G>A (p.Gly277Arg) c.586G>A (p.Gly196Arg) c.619G>A (p.Gly207Arg) c.637G>A (p.Gly213Arg) | gnomAD v4 |
2 | g.127426192G>C | CA348401544 | PROC | c.643G>C (p.Gly215Arg) c.121-2165G>C c.745G>C (p.Gly249Arg) n.229G>C c.826G>C (p.Gly276Arg) c.808G>C (p.Gly270Arg) c.706G>C (p.Gly236Arg) c.886G>C (p.Gly296Arg) c.988G>C (p.Gly330Arg) c.928G>C (p.Gly310Arg) n.4393C>G c.811G>C (p.Gly271Arg) c.829G>C (p.Gly277Arg) c.586G>C (p.Gly196Arg) c.619G>C (p.Gly207Arg) c.637G>C (p.Gly213Arg) | |
2 | g.127426192G>T | CA348401543 | PROC | c.643G>T (p.Gly215Trp) c.121-2165G>T c.745G>T (p.Gly249Trp) n.229G>T c.826G>T (p.Gly276Trp) c.808G>T (p.Gly270Trp) c.706G>T (p.Gly236Trp) c.886G>T (p.Gly296Trp) c.988G>T (p.Gly330Trp) c.928G>T (p.Gly310Trp) n.4393C>A c.811G>T (p.Gly271Trp) c.829G>T (p.Gly277Trp) c.586G>T (p.Gly196Trp) c.619G>T (p.Gly207Trp) c.637G>T (p.Gly213Trp) | |
2 | g.127426193G>A | CA348401547 | PROC | c.644G>A (p.Gly215Glu) c.121-2164G>A c.746G>A (p.Gly249Glu) n.230G>A c.827G>A (p.Gly276Glu) c.809G>A (p.Gly270Glu) c.707G>A (p.Gly236Glu) c.887G>A (p.Gly296Glu) c.989G>A (p.Gly330Glu) c.929G>A (p.Gly310Glu) n.4392C>T c.812G>A (p.Gly271Glu) c.830G>A (p.Gly277Glu) c.587G>A (p.Gly196Glu) c.620G>A (p.Gly207Glu) c.638G>A (p.Gly213Glu) | |
2 | g.127426193G>C | CA348401551 | PROC | c.644G>C (p.Gly215Ala) c.121-2164G>C c.746G>C (p.Gly249Ala) n.230G>C c.827G>C (p.Gly276Ala) c.809G>C (p.Gly270Ala) c.707G>C (p.Gly236Ala) c.887G>C (p.Gly296Ala) c.989G>C (p.Gly330Ala) c.929G>C (p.Gly310Ala) n.4392C>G c.812G>C (p.Gly271Ala) c.830G>C (p.Gly277Ala) c.587G>C (p.Gly196Ala) c.620G>C (p.Gly207Ala) c.638G>C (p.Gly213Ala) | |
2 | g.127426193G>T | CA348401554 | PROC | c.644G>T (p.Gly215Val) c.121-2164G>T c.746G>T (p.Gly249Val) n.230G>T c.827G>T (p.Gly276Val) c.809G>T (p.Gly270Val) c.707G>T (p.Gly236Val) c.887G>T (p.Gly296Val) c.989G>T (p.Gly330Val) c.929G>T (p.Gly310Val) n.4392C>A c.812G>T (p.Gly271Val) c.830G>T (p.Gly277Val) c.587G>T (p.Gly196Val) c.620G>T (p.Gly207Val) c.638G>T (p.Gly213Val) | |
2 | g.127426194G>A | CA428618333 | PROC | c.645G>A (p.Gly215=) c.121-2163G>A c.747G>A (p.Gly249=) n.231G>A c.828G>A (p.Gly276=) c.810G>A (p.Gly270=) c.708G>A (p.Gly236=) c.888G>A (p.Gly296=) c.990G>A (p.Gly330=) c.930G>A (p.Gly310=) n.4391C>T c.813G>A (p.Gly271=) c.831G>A (p.Gly277=) c.588G>A (p.Gly196=) c.621G>A (p.Gly207=) c.639G>A (p.Gly213=) | |
2 | g.127426194G>C | CA428618335 | PROC | c.645G>C (p.Gly215=) c.121-2163G>C c.747G>C (p.Gly249=) n.231G>C c.828G>C (p.Gly276=) c.810G>C (p.Gly270=) c.708G>C (p.Gly236=) c.888G>C (p.Gly296=) c.990G>C (p.Gly330=) c.930G>C (p.Gly310=) n.4391C>G c.813G>C (p.Gly271=) c.831G>C (p.Gly277=) c.588G>C (p.Gly196=) c.621G>C (p.Gly207=) c.639G>C (p.Gly213=) | |
2 | g.127426194G>T | CA428618334 | PROC | c.645G>T (p.Gly215=) c.121-2163G>T c.747G>T (p.Gly249=) n.231G>T c.828G>T (p.Gly276=) c.810G>T (p.Gly270=) c.708G>T (p.Gly236=) c.888G>T (p.Gly296=) c.990G>T (p.Gly330=) c.930G>T (p.Gly310=) n.4391C>A c.813G>T (p.Gly271=) c.831G>T (p.Gly277=) c.588G>T (p.Gly196=) c.621G>T (p.Gly207=) c.639G>T (p.Gly213=) | |
2 | g.127426195A>C | CA348401555 | PROC | c.646A>C (p.Lys216Gln) c.121-2162A>C c.748A>C (p.Lys250Gln) n.232A>C c.829A>C (p.Lys277Gln) c.811A>C (p.Lys271Gln) c.709A>C (p.Lys237Gln) c.889A>C (p.Lys297Gln) c.991A>C (p.Lys331Gln) c.931A>C (p.Lys311Gln) n.4390T>G c.814A>C (p.Lys272Gln) c.832A>C (p.Lys278Gln) c.589A>C (p.Lys197Gln) c.622A>C (p.Lys208Gln) c.640A>C (p.Lys214Gln) | |
2 | g.127426195A>G | CA348401556 | PROC | c.646A>G (p.Lys216Glu) c.121-2162A>G c.748A>G (p.Lys250Glu) n.232A>G c.829A>G (p.Lys277Glu) c.811A>G (p.Lys271Glu) c.709A>G (p.Lys237Glu) c.889A>G (p.Lys297Glu) c.991A>G (p.Lys331Glu) c.931A>G (p.Lys311Glu) n.4390T>C c.814A>G (p.Lys272Glu) c.832A>G (p.Lys278Glu) c.589A>G (p.Lys197Glu) c.622A>G (p.Lys208Glu) c.640A>G (p.Lys214Glu) | |
2 | g.127426195A>T | CA348401557 | PROC | c.646A>T (p.Lys216Ter) c.121-2162A>T c.748A>T (p.Lys250Ter) n.232A>T c.829A>T (p.Lys277Ter) c.811A>T (p.Lys271Ter) c.709A>T (p.Lys237Ter) c.889A>T (p.Lys297Ter) c.991A>T (p.Lys331Ter) c.931A>T (p.Lys311Ter) n.4390T>A c.814A>T (p.Lys272Ter) c.832A>T (p.Lys278Ter) c.589A>T (p.Lys197Ter) c.622A>T (p.Lys208Ter) c.640A>T (p.Lys214Ter) | |
2 | g.127426196A>C | CA348401559 | PROC | c.647A>C (p.Lys216Thr) c.121-2161A>C c.749A>C (p.Lys250Thr) n.233A>C c.830A>C (p.Lys277Thr) c.812A>C (p.Lys271Thr) c.710A>C (p.Lys237Thr) c.890A>C (p.Lys297Thr) c.992A>C (p.Lys331Thr) c.932A>C (p.Lys311Thr) n.4389T>G c.815A>C (p.Lys272Thr) c.833A>C (p.Lys278Thr) c.590A>C (p.Lys197Thr) c.623A>C (p.Lys208Thr) c.641A>C (p.Lys214Thr) | |
2 | g.127426196A>G | CA348401562 | PROC | c.647A>G (p.Lys216Arg) c.121-2161A>G c.749A>G (p.Lys250Arg) n.233A>G c.830A>G (p.Lys277Arg) c.812A>G (p.Lys271Arg) c.710A>G (p.Lys237Arg) c.890A>G (p.Lys297Arg) c.992A>G (p.Lys331Arg) c.932A>G (p.Lys311Arg) n.4389T>C c.815A>G (p.Lys272Arg) c.833A>G (p.Lys278Arg) c.590A>G (p.Lys197Arg) c.623A>G (p.Lys208Arg) c.641A>G (p.Lys214Arg) | |
2 | g.127426196A>T | CA348401564 | PROC | c.647A>T (p.Lys216Met) c.121-2161A>T c.749A>T (p.Lys250Met) n.233A>T c.830A>T (p.Lys277Met) c.812A>T (p.Lys271Met) c.710A>T (p.Lys237Met) c.890A>T (p.Lys297Met) c.992A>T (p.Lys331Met) c.932A>T (p.Lys311Met) n.4389T>A c.815A>T (p.Lys272Met) c.833A>T (p.Lys278Met) c.590A>T (p.Lys197Met) c.623A>T (p.Lys208Met) c.641A>T (p.Lys214Met) | |
2 | g.127426199_127426214del | CA2586969898 | PROC | c.650_665del (p.Met217ThrfsTer28) c.121-2158_121-2143del c.752_767del (p.Met251ThrfsTer28) n.236_251del c.833_848del (p.Met278ThrfsTer28) c.815_830del (p.Met272ThrfsTer28) c.713_728del (p.Met238ThrfsTer28) c.893_908del (p.Met298ThrfsTer28) c.995_1010del (p.Met332ThrfsTer28) c.935_950del (p.Met312ThrfsTer28) n.4374_4389del c.818_833del (p.Met273ThrfsTer28) c.836_851del (p.Met279ThrfsTer28) c.593_608del (p.Met198ThrfsTer28) c.626_641del (p.Met209ThrfsTer28) c.644_659del (p.Met215ThrfsTer28) | |
2 | g.127426197G>A | CA428618337 | PROC | c.648G>A (p.Lys216=) c.121-2160G>A c.750G>A (p.Lys250=) n.234G>A c.831G>A (p.Lys277=) c.813G>A (p.Lys271=) c.711G>A (p.Lys237=) c.891G>A (p.Lys297=) c.993G>A (p.Lys331=) c.933G>A (p.Lys311=) n.4388C>T c.816G>A (p.Lys272=) c.834G>A (p.Lys278=) c.591G>A (p.Lys197=) c.624G>A (p.Lys208=) c.642G>A (p.Lys214=) | |
2 | g.127426197G>C | CA348401566 | PROC | c.648G>C (p.Lys216Asn) c.121-2160G>C c.750G>C (p.Lys250Asn) n.234G>C c.831G>C (p.Lys277Asn) c.813G>C (p.Lys271Asn) c.711G>C (p.Lys237Asn) c.891G>C (p.Lys297Asn) c.993G>C (p.Lys331Asn) c.933G>C (p.Lys311Asn) n.4388C>G c.816G>C (p.Lys272Asn) c.834G>C (p.Lys278Asn) c.591G>C (p.Lys197Asn) c.624G>C (p.Lys208Asn) c.642G>C (p.Lys214Asn) | |
2 | g.127426197G>T | CA348401570 | PROC | c.648G>T (p.Lys216Asn) c.121-2160G>T c.750G>T (p.Lys250Asn) n.234G>T c.831G>T (p.Lys277Asn) c.813G>T (p.Lys271Asn) c.711G>T (p.Lys237Asn) c.891G>T (p.Lys297Asn) c.993G>T (p.Lys331Asn) c.933G>T (p.Lys311Asn) n.4388C>A c.816G>T (p.Lys272Asn) c.834G>T (p.Lys278Asn) c.591G>T (p.Lys197Asn) c.624G>T (p.Lys208Asn) c.642G>T (p.Lys214Asn) | |
2 | g.127426198A>C | CA348401578 | PROC | c.649A>C (p.Met217Leu) c.121-2159A>C c.751A>C (p.Met251Leu) n.235A>C c.832A>C (p.Met278Leu) c.814A>C (p.Met272Leu) c.712A>C (p.Met238Leu) c.892A>C (p.Met298Leu) c.994A>C (p.Met332Leu) c.934A>C (p.Met312Leu) n.4387T>G c.817A>C (p.Met273Leu) c.835A>C (p.Met279Leu) c.592A>C (p.Met198Leu) c.625A>C (p.Met209Leu) c.643A>C (p.Met215Leu) | |
2 | g.127426198A>G | CA348401576 | PROC | c.649A>G (p.Met217Val) c.121-2159A>G c.751A>G (p.Met251Val) n.235A>G c.832A>G (p.Met278Val) c.814A>G (p.Met272Val) c.712A>G (p.Met238Val) c.892A>G (p.Met298Val) c.994A>G (p.Met332Val) c.934A>G (p.Met312Val) n.4387T>C c.817A>G (p.Met273Val) c.835A>G (p.Met279Val) c.592A>G (p.Met198Val) c.625A>G (p.Met209Val) c.643A>G (p.Met215Val) | |
2 | g.127426198A>T | CA348401574 | PROC | c.649A>T (p.Met217Leu) c.121-2159A>T c.751A>T (p.Met251Leu) n.235A>T c.832A>T (p.Met278Leu) c.814A>T (p.Met272Leu) c.712A>T (p.Met238Leu) c.892A>T (p.Met298Leu) c.994A>T (p.Met332Leu) c.934A>T (p.Met312Leu) n.4387T>A c.817A>T (p.Met273Leu) c.835A>T (p.Met279Leu) c.592A>T (p.Met198Leu) c.625A>T (p.Met209Leu) c.643A>T (p.Met215Leu) | |
2 | g.127426199T>A | CA348401579 | PROC | c.650T>A (p.Met217Lys) c.121-2158T>A c.752T>A (p.Met251Lys) n.236T>A c.833T>A (p.Met278Lys) c.815T>A (p.Met272Lys) c.713T>A (p.Met238Lys) c.893T>A (p.Met298Lys) c.995T>A (p.Met332Lys) c.935T>A (p.Met312Lys) n.4386A>T c.818T>A (p.Met273Lys) c.836T>A (p.Met279Lys) c.593T>A (p.Met198Lys) c.626T>A (p.Met209Lys) c.644T>A (p.Met215Lys) | |
2 | g.127426199T>C | CA348401582 | PROC | c.650T>C (p.Met217Thr) c.121-2158T>C c.752T>C (p.Met251Thr) n.236T>C c.833T>C (p.Met278Thr) c.815T>C (p.Met272Thr) c.713T>C (p.Met238Thr) c.893T>C (p.Met298Thr) c.995T>C (p.Met332Thr) c.935T>C (p.Met312Thr) n.4386A>G c.818T>C (p.Met273Thr) c.836T>C (p.Met279Thr) c.593T>C (p.Met198Thr) c.626T>C (p.Met209Thr) c.644T>C (p.Met215Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127426199T>G | CA348401585 | PROC | c.650T>G (p.Met217Arg) c.121-2158T>G c.752T>G (p.Met251Arg) n.236T>G c.833T>G (p.Met278Arg) c.815T>G (p.Met272Arg) c.713T>G (p.Met238Arg) c.893T>G (p.Met298Arg) c.995T>G (p.Met332Arg) c.935T>G (p.Met312Arg) n.4386A>C c.818T>G (p.Met273Arg) c.836T>G (p.Met279Arg) c.593T>G (p.Met198Arg) c.626T>G (p.Met209Arg) c.644T>G (p.Met215Arg) | dbSNP |
2 | g.127426199T= | CA1286883446 | PROC | c.650T= (p.Met217=) c.121-2158T= c.752T= (p.Met251=) n.236T= c.833T= (p.Met278=) c.815T= (p.Met272=) c.713T= (p.Met238=) c.893T= (p.Met298=) c.995T= (p.Met332=) c.935T= (p.Met312=) n.4386A= c.818T= (p.Met273=) c.836T= (p.Met279=) c.593T= (p.Met198=) c.626T= (p.Met209=) c.644T= (p.Met215=) | |
2 | g.127426200G>A | CA348401589 | PROC | c.651G>A (p.Met217Ile) c.121-2157G>A c.753G>A (p.Met251Ile) n.237G>A c.834G>A (p.Met278Ile) c.816G>A (p.Met272Ile) c.714G>A (p.Met238Ile) c.894G>A (p.Met298Ile) c.996G>A (p.Met332Ile) c.936G>A (p.Met312Ile) n.4385C>T c.819G>A (p.Met273Ile) c.837G>A (p.Met279Ile) c.594G>A (p.Met198Ile) c.627G>A (p.Met209Ile) c.645G>A (p.Met215Ile) | |
2 | g.127426200G>C | CA348401591 | PROC | c.651G>C (p.Met217Ile) c.121-2157G>C c.753G>C (p.Met251Ile) n.237G>C c.834G>C (p.Met278Ile) c.816G>C (p.Met272Ile) c.714G>C (p.Met238Ile) c.894G>C (p.Met298Ile) c.996G>C (p.Met332Ile) c.936G>C (p.Met312Ile) n.4385C>G c.819G>C (p.Met273Ile) c.837G>C (p.Met279Ile) c.594G>C (p.Met198Ile) c.627G>C (p.Met209Ile) c.645G>C (p.Met215Ile) | |
2 | g.127426200G>T | CA348401595 | PROC | c.651G>T (p.Met217Ile) c.121-2157G>T c.753G>T (p.Met251Ile) n.237G>T c.834G>T (p.Met278Ile) c.816G>T (p.Met272Ile) c.714G>T (p.Met238Ile) c.894G>T (p.Met298Ile) c.996G>T (p.Met332Ile) c.936G>T (p.Met312Ile) n.4385C>A c.819G>T (p.Met273Ile) c.837G>T (p.Met279Ile) c.594G>T (p.Met198Ile) c.627G>T (p.Met209Ile) c.645G>T (p.Met215Ile) | |
2 | g.127426201A>C | CA348401599 | PROC | c.652A>C (p.Thr218Pro) c.121-2156A>C c.754A>C (p.Thr252Pro) n.238A>C c.835A>C (p.Thr279Pro) c.817A>C (p.Thr273Pro) c.715A>C (p.Thr239Pro) c.895A>C (p.Thr299Pro) c.997A>C (p.Thr333Pro) c.937A>C (p.Thr313Pro) n.4384T>G c.820A>C (p.Thr274Pro) c.838A>C (p.Thr280Pro) c.595A>C (p.Thr199Pro) c.628A>C (p.Thr210Pro) c.646A>C (p.Thr216Pro) | |
2 | g.127426201A>G | CA348401609 | PROC | c.652A>G (p.Thr218Ala) c.121-2156A>G c.754A>G (p.Thr252Ala) n.238A>G c.835A>G (p.Thr279Ala) c.817A>G (p.Thr273Ala) c.715A>G (p.Thr239Ala) c.895A>G (p.Thr299Ala) c.997A>G (p.Thr333Ala) c.937A>G (p.Thr313Ala) n.4384T>C c.820A>G (p.Thr274Ala) c.838A>G (p.Thr280Ala) c.595A>G (p.Thr199Ala) c.628A>G (p.Thr210Ala) c.646A>G (p.Thr216Ala) | |
2 | g.127426201A>T | CA348401613 | PROC | c.652A>T (p.Thr218Ser) c.121-2156A>T c.754A>T (p.Thr252Ser) n.238A>T c.835A>T (p.Thr279Ser) c.817A>T (p.Thr273Ser) c.715A>T (p.Thr239Ser) c.895A>T (p.Thr299Ser) c.997A>T (p.Thr333Ser) c.937A>T (p.Thr313Ser) n.4384T>A c.820A>T (p.Thr274Ser) c.838A>T (p.Thr280Ser) c.595A>T (p.Thr199Ser) c.628A>T (p.Thr210Ser) c.646A>T (p.Thr216Ser) | COSMIC COSMIC |
2 | g.127426202C>A | CA348401617 | PROC | c.653C>A (p.Thr218Asn) c.121-2155C>A c.755C>A (p.Thr252Asn) n.239C>A c.836C>A (p.Thr279Asn) c.818C>A (p.Thr273Asn) c.716C>A (p.Thr239Asn) c.896C>A (p.Thr299Asn) c.998C>A (p.Thr333Asn) c.938C>A (p.Thr313Asn) n.4383G>T c.821C>A (p.Thr274Asn) c.839C>A (p.Thr280Asn) c.596C>A (p.Thr199Asn) c.629C>A (p.Thr210Asn) c.647C>A (p.Thr216Asn) | |
2 | g.127426202C>G | CA348401626 | PROC | c.653C>G (p.Thr218Ser) c.121-2155C>G c.755C>G (p.Thr252Ser) n.239C>G c.836C>G (p.Thr279Ser) c.818C>G (p.Thr273Ser) c.716C>G (p.Thr239Ser) c.896C>G (p.Thr299Ser) c.998C>G (p.Thr333Ser) c.938C>G (p.Thr313Ser) n.4383G>C c.821C>G (p.Thr274Ser) c.839C>G (p.Thr280Ser) c.596C>G (p.Thr199Ser) c.629C>G (p.Thr210Ser) c.647C>G (p.Thr216Ser) | |
2 | g.127426202C>T | CA348401628 | PROC | c.653C>T (p.Thr218Ile) c.121-2155C>T c.755C>T (p.Thr252Ile) n.239C>T c.836C>T (p.Thr279Ile) c.818C>T (p.Thr273Ile) c.716C>T (p.Thr239Ile) c.896C>T (p.Thr299Ile) c.998C>T (p.Thr333Ile) c.938C>T (p.Thr313Ile) n.4383G>A c.821C>T (p.Thr274Ile) c.839C>T (p.Thr280Ile) c.596C>T (p.Thr199Ile) c.629C>T (p.Thr210Ile) c.647C>T (p.Thr216Ile) | |
2 | g.127426203C>A | CA428618341 | PROC | c.654C>A (p.Thr218=) c.121-2154C>A c.756C>A (p.Thr252=) n.240C>A c.837C>A (p.Thr279=) c.819C>A (p.Thr273=) c.717C>A (p.Thr239=) c.897C>A (p.Thr299=) c.999C>A (p.Thr333=) c.939C>A (p.Thr313=) n.4382G>T c.822C>A (p.Thr274=) c.840C>A (p.Thr280=) c.597C>A (p.Thr199=) c.630C>A (p.Thr210=) c.648C>A (p.Thr216=) | |
2 | g.127426203C>G | CA428618343 | PROC | c.654C>G (p.Thr218=) c.121-2154C>G c.756C>G (p.Thr252=) n.240C>G c.837C>G (p.Thr279=) c.819C>G (p.Thr273=) c.717C>G (p.Thr239=) c.897C>G (p.Thr299=) c.999C>G (p.Thr333=) c.939C>G (p.Thr313=) n.4382G>C c.822C>G (p.Thr274=) c.840C>G (p.Thr280=) c.597C>G (p.Thr199=) c.630C>G (p.Thr210=) c.648C>G (p.Thr216=) | |
2 | g.127426203C>T | CA428618345 | PROC | c.654C>T (p.Thr218=) c.121-2154C>T c.756C>T (p.Thr252=) n.240C>T c.837C>T (p.Thr279=) c.819C>T (p.Thr273=) c.717C>T (p.Thr239=) c.897C>T (p.Thr299=) c.999C>T (p.Thr333=) c.939C>T (p.Thr313=) n.4382G>A c.822C>T (p.Thr274=) c.840C>T (p.Thr280=) c.597C>T (p.Thr199=) c.630C>T (p.Thr210=) c.648C>T (p.Thr216=) | |
2 | g.127426204A= | CA1286883447 | PROC | c.655A= (p.Arg219=) c.121-2153A= c.757A= (p.Arg253=) n.241A= c.838A= (p.Arg280=) c.820A= (p.Arg274=) c.718A= (p.Arg240=) c.898A= (p.Arg300=) c.1000A= (p.Arg334=) c.940A= (p.Arg314=) n.4381T= c.823A= (p.Arg275=) c.841A= (p.Arg281=) c.598A= (p.Arg200=) c.631A= (p.Arg211=) c.649A= (p.Arg217=) | |
2 | g.127426204A>C | CA428618346 | PROC | c.655A>C (p.Arg219=) c.121-2153A>C c.757A>C (p.Arg253=) n.241A>C c.838A>C (p.Arg280=) c.820A>C (p.Arg274=) c.718A>C (p.Arg240=) c.898A>C (p.Arg300=) c.1000A>C (p.Arg334=) c.940A>C (p.Arg314=) n.4381T>G c.823A>C (p.Arg275=) c.841A>C (p.Arg281=) c.598A>C (p.Arg200=) c.631A>C (p.Arg211=) c.649A>C (p.Arg217=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127426204A>G | CA348401633 | PROC | c.655A>G (p.Arg219Gly) c.121-2153A>G c.757A>G (p.Arg253Gly) n.241A>G c.838A>G (p.Arg280Gly) c.820A>G (p.Arg274Gly) c.718A>G (p.Arg240Gly) c.898A>G (p.Arg300Gly) c.1000A>G (p.Arg334Gly) c.940A>G (p.Arg314Gly) n.4381T>C c.823A>G (p.Arg275Gly) c.841A>G (p.Arg281Gly) c.598A>G (p.Arg200Gly) c.631A>G (p.Arg211Gly) c.649A>G (p.Arg217Gly) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127426204A>T | CA348401636 | PROC | c.655A>T (p.Arg219Trp) c.121-2153A>T c.757A>T (p.Arg253Trp) n.241A>T c.838A>T (p.Arg280Trp) c.820A>T (p.Arg274Trp) c.718A>T (p.Arg240Trp) c.898A>T (p.Arg300Trp) c.1000A>T (p.Arg334Trp) c.940A>T (p.Arg314Trp) n.4381T>A c.823A>T (p.Arg275Trp) c.841A>T (p.Arg281Trp) c.598A>T (p.Arg200Trp) c.631A>T (p.Arg211Trp) c.649A>T (p.Arg217Trp) | |
2 | g.127426205G>A | CA348401640 | PROC | c.656G>A (p.Arg219Lys) c.121-2152G>A c.758G>A (p.Arg253Lys) n.242G>A c.839G>A (p.Arg280Lys) c.821G>A (p.Arg274Lys) c.719G>A (p.Arg240Lys) c.899G>A (p.Arg300Lys) c.1001G>A (p.Arg334Lys) c.941G>A (p.Arg314Lys) n.4380C>T c.824G>A (p.Arg275Lys) c.842G>A (p.Arg281Lys) c.599G>A (p.Arg200Lys) c.632G>A (p.Arg211Lys) c.650G>A (p.Arg217Lys) | |
2 | g.127426205G>C | CA348401642 | PROC | c.656G>C (p.Arg219Thr) c.121-2152G>C c.758G>C (p.Arg253Thr) n.242G>C c.839G>C (p.Arg280Thr) c.821G>C (p.Arg274Thr) c.719G>C (p.Arg240Thr) c.899G>C (p.Arg300Thr) c.1001G>C (p.Arg334Thr) c.941G>C (p.Arg314Thr) n.4380C>G c.824G>C (p.Arg275Thr) c.842G>C (p.Arg281Thr) c.599G>C (p.Arg200Thr) c.632G>C (p.Arg211Thr) c.650G>C (p.Arg217Thr) | gnomAD v4 |
2 | g.127426205G>T | CA348401647 | PROC | c.656G>T (p.Arg219Met) c.121-2152G>T c.758G>T (p.Arg253Met) n.242G>T c.839G>T (p.Arg280Met) c.821G>T (p.Arg274Met) c.719G>T (p.Arg240Met) c.899G>T (p.Arg300Met) c.1001G>T (p.Arg334Met) c.941G>T (p.Arg314Met) n.4380C>A c.824G>T (p.Arg275Met) c.842G>T (p.Arg281Met) c.599G>T (p.Arg200Met) c.632G>T (p.Arg211Met) c.650G>T (p.Arg217Met) | |
2 | g.127426206G>A | CA428618348 | PROC | c.657G>A (p.Arg219=) c.121-2151G>A c.759G>A (p.Arg253=) n.243G>A c.840G>A (p.Arg280=) c.822G>A (p.Arg274=) c.720G>A (p.Arg240=) c.900G>A (p.Arg300=) c.1002G>A (p.Arg334=) c.942G>A (p.Arg314=) n.4379C>T c.825G>A (p.Arg275=) c.843G>A (p.Arg281=) c.600G>A (p.Arg200=) c.633G>A (p.Arg211=) c.651G>A (p.Arg217=) | COSMIC |
2 | g.127426206G>C | CA348401651 | PROC | c.657G>C (p.Arg219Ser) c.121-2151G>C c.759G>C (p.Arg253Ser) n.243G>C c.840G>C (p.Arg280Ser) c.822G>C (p.Arg274Ser) c.720G>C (p.Arg240Ser) c.900G>C (p.Arg300Ser) c.1002G>C (p.Arg334Ser) c.942G>C (p.Arg314Ser) n.4379C>G c.825G>C (p.Arg275Ser) c.843G>C (p.Arg281Ser) c.600G>C (p.Arg200Ser) c.633G>C (p.Arg211Ser) c.651G>C (p.Arg217Ser) | |
2 | g.127426206G>T | CA348401652 | PROC | c.657G>T (p.Arg219Ser) c.121-2151G>T c.759G>T (p.Arg253Ser) n.243G>T c.840G>T (p.Arg280Ser) c.822G>T (p.Arg274Ser) c.720G>T (p.Arg240Ser) c.900G>T (p.Arg300Ser) c.1002G>T (p.Arg334Ser) c.942G>T (p.Arg314Ser) n.4379C>A c.825G>T (p.Arg275Ser) c.843G>T (p.Arg281Ser) c.600G>T (p.Arg200Ser) c.633G>T (p.Arg211Ser) c.651G>T (p.Arg217Ser) | |
2 | g.127426207C>A | CA428618351 | PROC | c.658C>A (p.Arg220=) c.121-2150C>A c.760C>A (p.Arg254=) n.244C>A c.841C>A (p.Arg281=) c.823C>A (p.Arg275=) c.721C>A (p.Arg241=) c.901C>A (p.Arg301=) c.1003C>A (p.Arg335=) c.943C>A (p.Arg315=) n.4378G>T c.826C>A (p.Arg276=) c.844C>A (p.Arg282=) c.601C>A (p.Arg201=) c.634C>A (p.Arg212=) c.652C>A (p.Arg218=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127426207C= | CA1286883448 | PROC | c.658C= (p.Arg220=) c.121-2150C= c.760C= (p.Arg254=) n.244C= c.841C= (p.Arg281=) c.823C= (p.Arg275=) c.721C= (p.Arg241=) c.901C= (p.Arg301=) c.1003C= (p.Arg335=) c.943C= (p.Arg315=) n.4378G= c.826C= (p.Arg276=) c.844C= (p.Arg282=) c.601C= (p.Arg201=) c.634C= (p.Arg212=) c.652C= (p.Arg218=) | |
2 | g.127426207C>G | CA348401654 | PROC | c.658C>G (p.Arg220Gly) c.121-2150C>G c.760C>G (p.Arg254Gly) n.244C>G c.841C>G (p.Arg281Gly) c.823C>G (p.Arg275Gly) c.721C>G (p.Arg241Gly) c.901C>G (p.Arg301Gly) c.1003C>G (p.Arg335Gly) c.943C>G (p.Arg315Gly) n.4378G>C c.826C>G (p.Arg276Gly) c.844C>G (p.Arg282Gly) c.601C>G (p.Arg201Gly) c.634C>G (p.Arg212Gly) c.652C>G (p.Arg218Gly) | |
2 | g.127426207C>T | CA114410 | PROC | c.658C>T (p.Arg220Trp) c.121-2150C>T c.760C>T (p.Arg254Trp) n.244C>T c.841C>T (p.Arg281Trp) c.823C>T (p.Arg275Trp) c.721C>T (p.Arg241Trp) c.901C>T (p.Arg301Trp) c.1003C>T (p.Arg335Trp) c.943C>T (p.Arg315Trp) n.4378G>A c.826C>T (p.Arg276Trp) c.844C>T (p.Arg282Trp) c.601C>T (p.Arg201Trp) c.634C>T (p.Arg212Trp) c.652C>T (p.Arg218Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.127426208G>A | CA114412 | PROC | c.659G>A (p.Arg220Gln) c.121-2149G>A c.761G>A (p.Arg254Gln) n.245G>A c.842G>A (p.Arg281Gln) c.824G>A (p.Arg275Gln) c.722G>A (p.Arg241Gln) c.902G>A (p.Arg301Gln) c.1004G>A (p.Arg335Gln) c.944G>A (p.Arg315Gln) n.4377C>T c.827G>A (p.Arg276Gln) c.845G>A (p.Arg282Gln) c.602G>A (p.Arg201Gln) c.635G>A (p.Arg212Gln) c.653G>A (p.Arg218Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127426208G>C | CA348401661 | PROC | c.659G>C (p.Arg220Pro) c.121-2149G>C c.761G>C (p.Arg254Pro) n.245G>C c.842G>C (p.Arg281Pro) c.824G>C (p.Arg275Pro) c.722G>C (p.Arg241Pro) c.902G>C (p.Arg301Pro) c.1004G>C (p.Arg335Pro) c.944G>C (p.Arg315Pro) n.4377C>G c.827G>C (p.Arg276Pro) c.845G>C (p.Arg282Pro) c.602G>C (p.Arg201Pro) c.635G>C (p.Arg212Pro) c.653G>C (p.Arg218Pro) | ClinVar dbSNP |
2 | g.127426208G= | CA1286883449 | PROC | c.659G= (p.Arg220=) c.121-2149G= c.761G= (p.Arg254=) n.245G= c.842G= (p.Arg281=) c.824G= (p.Arg275=) c.722G= (p.Arg241=) c.902G= (p.Arg301=) c.1004G= (p.Arg335=) c.944G= (p.Arg315=) n.4377C= c.827G= (p.Arg276=) c.845G= (p.Arg282=) c.602G= (p.Arg201=) c.635G= (p.Arg212=) c.653G= (p.Arg218=) | |
2 | g.127426208G>T | CA1859404 | PROC | c.659G>T (p.Arg220Leu) c.121-2149G>T c.761G>T (p.Arg254Leu) n.245G>T c.842G>T (p.Arg281Leu) c.824G>T (p.Arg275Leu) c.722G>T (p.Arg241Leu) c.902G>T (p.Arg301Leu) c.1004G>T (p.Arg335Leu) c.944G>T (p.Arg315Leu) n.4377C>A c.827G>T (p.Arg276Leu) c.845G>T (p.Arg282Leu) c.602G>T (p.Arg201Leu) c.635G>T (p.Arg212Leu) c.653G>T (p.Arg218Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127426209G>A | CA428618353 | PROC | c.660G>A (p.Arg220=) c.121-2148G>A c.762G>A (p.Arg254=) n.246G>A c.843G>A (p.Arg281=) c.825G>A (p.Arg275=) c.723G>A (p.Arg241=) c.903G>A (p.Arg301=) c.1005G>A (p.Arg335=) c.945G>A (p.Arg315=) n.4376C>T c.828G>A (p.Arg276=) c.846G>A (p.Arg282=) c.603G>A (p.Arg201=) c.636G>A (p.Arg212=) c.654G>A (p.Arg218=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.127426209G>C | CA428618354 | PROC | c.660G>C (p.Arg220=) c.121-2148G>C c.762G>C (p.Arg254=) n.246G>C c.843G>C (p.Arg281=) c.825G>C (p.Arg275=) c.723G>C (p.Arg241=) c.903G>C (p.Arg301=) c.1005G>C (p.Arg335=) c.945G>C (p.Arg315=) n.4376C>G c.828G>C (p.Arg276=) c.846G>C (p.Arg282=) c.603G>C (p.Arg201=) c.636G>C (p.Arg212=) c.654G>C (p.Arg218=) | |
2 | g.127426209G= | CA1286883450 | PROC | c.660G= (p.Arg220=) c.121-2148G= c.762G= (p.Arg254=) n.246G= c.843G= (p.Arg281=) c.825G= (p.Arg275=) c.723G= (p.Arg241=) c.903G= (p.Arg301=) c.1005G= (p.Arg335=) c.945G= (p.Arg315=) n.4376C= c.828G= (p.Arg276=) c.846G= (p.Arg282=) c.603G= (p.Arg201=) c.636G= (p.Arg212=) c.654G= (p.Arg218=) | |
2 | g.127426209G>T | CA428618355 | PROC | c.660G>T (p.Arg220=) c.121-2148G>T c.762G>T (p.Arg254=) n.246G>T c.843G>T (p.Arg281=) c.825G>T (p.Arg275=) c.723G>T (p.Arg241=) c.903G>T (p.Arg301=) c.1005G>T (p.Arg335=) c.945G>T (p.Arg315=) n.4376C>A c.828G>T (p.Arg276=) c.846G>T (p.Arg282=) c.603G>T (p.Arg201=) c.636G>T (p.Arg212=) c.654G>T (p.Arg218=) | |
2 | g.127426210G>A | CA55348430 | PROC | c.661G>A (p.Gly221Arg) c.121-2147G>A c.763G>A (p.Gly255Arg) n.247G>A c.844G>A (p.Gly282Arg) c.826G>A (p.Gly276Arg) c.724G>A (p.Gly242Arg) c.904G>A (p.Gly302Arg) c.1006G>A (p.Gly336Arg) c.946G>A (p.Gly316Arg) n.4375C>T c.829G>A (p.Gly277Arg) c.847G>A (p.Gly283Arg) c.604G>A (p.Gly202Arg) c.637G>A (p.Gly213Arg) c.655G>A (p.Gly219Arg) | dbSNP |
2 | g.127426210G>C | CA348401668 | PROC | c.661G>C (p.Gly221Arg) c.121-2147G>C c.763G>C (p.Gly255Arg) n.247G>C c.844G>C (p.Gly282Arg) c.826G>C (p.Gly276Arg) c.724G>C (p.Gly242Arg) c.904G>C (p.Gly302Arg) c.1006G>C (p.Gly336Arg) c.946G>C (p.Gly316Arg) n.4375C>G c.829G>C (p.Gly277Arg) c.847G>C (p.Gly283Arg) c.604G>C (p.Gly202Arg) c.637G>C (p.Gly213Arg) c.655G>C (p.Gly219Arg) | |
2 | g.127426210G= | CA1286883451 | PROC | c.661G= (p.Gly221=) c.121-2147G= c.763G= (p.Gly255=) n.247G= c.844G= (p.Gly282=) c.826G= (p.Gly276=) c.724G= (p.Gly242=) c.904G= (p.Gly302=) c.1006G= (p.Gly336=) c.946G= (p.Gly316=) n.4375C= c.829G= (p.Gly277=) c.847G= (p.Gly283=) c.604G= (p.Gly202=) c.637G= (p.Gly213=) c.655G= (p.Gly219=) | |
2 | g.127426210G>T | CA348401671 | PROC | c.661G>T (p.Gly221Ter) c.121-2147G>T c.763G>T (p.Gly255Ter) n.247G>T c.844G>T (p.Gly282Ter) c.826G>T (p.Gly276Ter) c.724G>T (p.Gly242Ter) c.904G>T (p.Gly302Ter) c.1006G>T (p.Gly336Ter) c.946G>T (p.Gly316Ter) n.4375C>A c.829G>T (p.Gly277Ter) c.847G>T (p.Gly283Ter) c.604G>T (p.Gly202Ter) c.637G>T (p.Gly213Ter) c.655G>T (p.Gly219Ter) | |
2 | g.127426211G>A | CA348401679 | PROC | c.662G>A (p.Gly221Glu) c.121-2146G>A c.764G>A (p.Gly255Glu) n.248G>A c.845G>A (p.Gly282Glu) c.827G>A (p.Gly276Glu) c.725G>A (p.Gly242Glu) c.905G>A (p.Gly302Glu) c.1007G>A (p.Gly336Glu) c.947G>A (p.Gly316Glu) n.4374C>T c.830G>A (p.Gly277Glu) c.848G>A (p.Gly283Glu) c.605G>A (p.Gly202Glu) c.638G>A (p.Gly213Glu) c.656G>A (p.Gly219Glu) | |
2 | g.127426211G>C | CA348401674 | PROC | c.662G>C (p.Gly221Ala) c.121-2146G>C c.764G>C (p.Gly255Ala) n.248G>C c.845G>C (p.Gly282Ala) c.827G>C (p.Gly276Ala) c.725G>C (p.Gly242Ala) c.905G>C (p.Gly302Ala) c.1007G>C (p.Gly336Ala) c.947G>C (p.Gly316Ala) n.4374C>G c.830G>C (p.Gly277Ala) c.848G>C (p.Gly283Ala) c.605G>C (p.Gly202Ala) c.638G>C (p.Gly213Ala) c.656G>C (p.Gly219Ala) | |
2 | g.127426211G>T | CA348401677 | PROC | c.662G>T (p.Gly221Val) c.121-2146G>T c.764G>T (p.Gly255Val) n.248G>T c.845G>T (p.Gly282Val) c.827G>T (p.Gly276Val) c.725G>T (p.Gly242Val) c.905G>T (p.Gly302Val) c.1007G>T (p.Gly336Val) c.947G>T (p.Gly316Val) n.4374C>A c.830G>T (p.Gly277Val) c.848G>T (p.Gly283Val) c.605G>T (p.Gly202Val) c.638G>T (p.Gly213Val) c.656G>T (p.Gly219Val) | |
2 | g.127426212A= | CA1286883452 | PROC | c.663A= (p.Gly221=) c.121-2145A= c.765A= (p.Gly255=) n.249A= c.846A= (p.Gly282=) c.828A= (p.Gly276=) c.726A= (p.Gly242=) c.906A= (p.Gly302=) c.1008A= (p.Gly336=) c.948A= (p.Gly316=) n.4373T= c.831A= (p.Gly277=) c.849A= (p.Gly283=) c.606A= (p.Gly202=) c.639A= (p.Gly213=) c.657A= (p.Gly219=) | |
2 | g.127426212A>C | CA428618357 | PROC | c.663A>C (p.Gly221=) c.121-2145A>C c.765A>C (p.Gly255=) n.249A>C c.846A>C (p.Gly282=) c.828A>C (p.Gly276=) c.726A>C (p.Gly242=) c.906A>C (p.Gly302=) c.1008A>C (p.Gly336=) c.948A>C (p.Gly316=) n.4373T>G c.831A>C (p.Gly277=) c.849A>C (p.Gly283=) c.606A>C (p.Gly202=) c.639A>C (p.Gly213=) c.657A>C (p.Gly219=) | |
2 | g.127426212A>G | CA428618359 | PROC | c.663A>G (p.Gly221=) c.121-2145A>G c.765A>G (p.Gly255=) n.249A>G c.846A>G (p.Gly282=) c.828A>G (p.Gly276=) c.726A>G (p.Gly242=) c.906A>G (p.Gly302=) c.1008A>G (p.Gly336=) c.948A>G (p.Gly316=) n.4373T>C c.831A>G (p.Gly277=) c.849A>G (p.Gly283=) c.606A>G (p.Gly202=) c.639A>G (p.Gly213=) c.657A>G (p.Gly219=) | |
2 | g.127426212A>T | CA55348435 | PROC | c.663A>T (p.Gly221=) c.121-2145A>T c.765A>T (p.Gly255=) n.249A>T c.846A>T (p.Gly282=) c.828A>T (p.Gly276=) c.726A>T (p.Gly242=) c.906A>T (p.Gly302=) c.1008A>T (p.Gly336=) c.948A>T (p.Gly316=) n.4373T>A c.831A>T (p.Gly277=) c.849A>T (p.Gly283=) c.606A>T (p.Gly202=) c.639A>T (p.Gly213=) c.657A>T (p.Gly219=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127426213G>A | CA348401682 | PROC | c.664G>A (p.Asp222Asn) c.121-2144G>A c.766G>A (p.Asp256Asn) n.250G>A c.847G>A (p.Asp283Asn) c.829G>A (p.Asp277Asn) c.727G>A (p.Asp243Asn) c.907G>A (p.Asp303Asn) c.1009G>A (p.Asp337Asn) c.949G>A (p.Asp317Asn) n.4372C>T c.832G>A (p.Asp278Asn) c.850G>A (p.Asp284Asn) c.607G>A (p.Asp203Asn) c.640G>A (p.Asp214Asn) c.658G>A (p.Asp220Asn) | gnomAD v4 |
2 | g.127426213G>C | CA348401691 | PROC | c.664G>C (p.Asp222His) c.121-2144G>C c.766G>C (p.Asp256His) n.250G>C c.847G>C (p.Asp283His) c.829G>C (p.Asp277His) c.727G>C (p.Asp243His) c.907G>C (p.Asp303His) c.1009G>C (p.Asp337His) c.949G>C (p.Asp317His) n.4372C>G c.832G>C (p.Asp278His) c.850G>C (p.Asp284His) c.607G>C (p.Asp203His) c.640G>C (p.Asp214His) c.658G>C (p.Asp220His) | |
2 | g.127426213G>T | CA348401694 | PROC | c.664G>T (p.Asp222Tyr) c.121-2144G>T c.766G>T (p.Asp256Tyr) n.250G>T c.847G>T (p.Asp283Tyr) c.829G>T (p.Asp277Tyr) c.727G>T (p.Asp243Tyr) c.907G>T (p.Asp303Tyr) c.1009G>T (p.Asp337Tyr) c.949G>T (p.Asp317Tyr) n.4372C>A c.832G>T (p.Asp278Tyr) c.850G>T (p.Asp284Tyr) c.607G>T (p.Asp203Tyr) c.640G>T (p.Asp214Tyr) c.658G>T (p.Asp220Tyr) | |
2 | g.127426214A= | CA1286883453 | PROC | c.665A= (p.Asp222=) c.121-2143A= c.767A= (p.Asp256=) n.251A= c.848A= (p.Asp283=) c.830A= (p.Asp277=) c.728A= (p.Asp243=) c.908A= (p.Asp303=) c.1010A= (p.Asp337=) c.950A= (p.Asp317=) n.4371T= c.833A= (p.Asp278=) c.851A= (p.Asp284=) c.608A= (p.Asp203=) c.641A= (p.Asp214=) c.659A= (p.Asp220=) | |
2 | g.127426214A>C | CA348401696 | PROC | c.665A>C (p.Asp222Ala) c.121-2143A>C c.767A>C (p.Asp256Ala) n.251A>C c.848A>C (p.Asp283Ala) c.830A>C (p.Asp277Ala) c.728A>C (p.Asp243Ala) c.908A>C (p.Asp303Ala) c.1010A>C (p.Asp337Ala) c.950A>C (p.Asp317Ala) n.4371T>G c.833A>C (p.Asp278Ala) c.851A>C (p.Asp284Ala) c.608A>C (p.Asp203Ala) c.641A>C (p.Asp214Ala) c.659A>C (p.Asp220Ala) | |
2 | g.127426214A>G | CA348401698 | PROC | c.665A>G (p.Asp222Gly) c.121-2143A>G c.767A>G (p.Asp256Gly) n.251A>G c.848A>G (p.Asp283Gly) c.830A>G (p.Asp277Gly) c.728A>G (p.Asp243Gly) c.908A>G (p.Asp303Gly) c.1010A>G (p.Asp337Gly) c.950A>G (p.Asp317Gly) n.4371T>C c.833A>G (p.Asp278Gly) c.851A>G (p.Asp284Gly) c.608A>G (p.Asp203Gly) c.641A>G (p.Asp214Gly) c.659A>G (p.Asp220Gly) | dbSNP |
2 | g.127426214A>T | CA348401700 | PROC | c.665A>T (p.Asp222Val) c.121-2143A>T c.767A>T (p.Asp256Val) n.251A>T c.848A>T (p.Asp283Val) c.830A>T (p.Asp277Val) c.728A>T (p.Asp243Val) c.908A>T (p.Asp303Val) c.1010A>T (p.Asp337Val) c.950A>T (p.Asp317Val) n.4371T>A c.833A>T (p.Asp278Val) c.851A>T (p.Asp284Val) c.608A>T (p.Asp203Val) c.641A>T (p.Asp214Val) c.659A>T (p.Asp220Val) | |
2 | g.127426215C>A | CA348401704 | PROC | c.666C>A (p.Asp222Glu) c.121-2142C>A c.768C>A (p.Asp256Glu) n.252C>A c.849C>A (p.Asp283Glu) c.831C>A (p.Asp277Glu) c.729C>A (p.Asp243Glu) c.909C>A (p.Asp303Glu) c.1011C>A (p.Asp337Glu) c.951C>A (p.Asp317Glu) n.4370G>T c.834C>A (p.Asp278Glu) c.852C>A (p.Asp284Glu) c.609C>A (p.Asp203Glu) c.642C>A (p.Asp214Glu) c.660C>A (p.Asp220Glu) | |
2 | g.127426215C= | CA1286883454 | PROC | c.666C= (p.Asp222=) c.121-2142C= c.768C= (p.Asp256=) n.252C= c.849C= (p.Asp283=) c.831C= (p.Asp277=) c.729C= (p.Asp243=) c.909C= (p.Asp303=) c.1011C= (p.Asp337=) c.951C= (p.Asp317=) n.4370G= c.834C= (p.Asp278=) c.852C= (p.Asp284=) c.609C= (p.Asp203=) c.642C= (p.Asp214=) c.660C= (p.Asp220=) | |
2 | g.127426215C>G | CA10612100 | PROC | c.666C>G (p.Asp222Glu) c.121-2142C>G c.768C>G (p.Asp256Glu) n.252C>G c.849C>G (p.Asp283Glu) c.831C>G (p.Asp277Glu) c.729C>G (p.Asp243Glu) c.909C>G (p.Asp303Glu) c.1011C>G (p.Asp337Glu) c.951C>G (p.Asp317Glu) n.4370G>C c.834C>G (p.Asp278Glu) c.852C>G (p.Asp284Glu) c.609C>G (p.Asp203Glu) c.642C>G (p.Asp214Glu) c.660C>G (p.Asp220Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.127426215C>T | CA428618361 | PROC | c.666C>T (p.Asp222=) c.121-2142C>T c.768C>T (p.Asp256=) n.252C>T c.849C>T (p.Asp283=) c.831C>T (p.Asp277=) c.729C>T (p.Asp243=) c.909C>T (p.Asp303=) c.1011C>T (p.Asp337=) c.951C>T (p.Asp317=) n.4370G>A c.834C>T (p.Asp278=) c.852C>T (p.Asp284=) c.609C>T (p.Asp203=) c.642C>T (p.Asp214=) c.660C>T (p.Asp220=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127426216A>C | CA348401707 | PROC | c.667A>C (p.Ser223Arg) c.121-2141A>C c.769A>C (p.Ser257Arg) n.253A>C c.850A>C (p.Ser284Arg) c.832A>C (p.Ser278Arg) c.730A>C (p.Ser244Arg) c.910A>C (p.Ser304Arg) c.1012A>C (p.Ser338Arg) c.952A>C (p.Ser318Arg) n.4369T>G c.835A>C (p.Ser279Arg) c.853A>C (p.Ser285Arg) c.610A>C (p.Ser204Arg) c.643A>C (p.Ser215Arg) c.661A>C (p.Ser221Arg) | |
2 | g.127426216A>G | CA348401709 | PROC | c.667A>G (p.Ser223Gly) c.121-2141A>G c.769A>G (p.Ser257Gly) n.253A>G c.850A>G (p.Ser284Gly) c.832A>G (p.Ser278Gly) c.730A>G (p.Ser244Gly) c.910A>G (p.Ser304Gly) c.1012A>G (p.Ser338Gly) c.952A>G (p.Ser318Gly) n.4369T>C c.835A>G (p.Ser279Gly) c.853A>G (p.Ser285Gly) c.610A>G (p.Ser204Gly) c.643A>G (p.Ser215Gly) c.661A>G (p.Ser221Gly) | gnomAD v4 |
2 | g.127426216A>T | CA348401712 | PROC | c.667A>T (p.Ser223Cys) c.121-2141A>T c.769A>T (p.Ser257Cys) n.253A>T c.850A>T (p.Ser284Cys) c.832A>T (p.Ser278Cys) c.730A>T (p.Ser244Cys) c.910A>T (p.Ser304Cys) c.1012A>T (p.Ser338Cys) c.952A>T (p.Ser318Cys) n.4369T>A c.835A>T (p.Ser279Cys) c.853A>T (p.Ser285Cys) c.610A>T (p.Ser204Cys) c.643A>T (p.Ser215Cys) c.661A>T (p.Ser221Cys) | |
2 | g.127426217G>A | CA348401719 | PROC | c.668G>A (p.Ser223Asn) c.121-2140G>A c.770G>A (p.Ser257Asn) n.254G>A c.851G>A (p.Ser284Asn) c.833G>A (p.Ser278Asn) c.731G>A (p.Ser244Asn) c.911G>A (p.Ser304Asn) c.1013G>A (p.Ser338Asn) c.953G>A (p.Ser318Asn) n.4368C>T c.836G>A (p.Ser279Asn) c.854G>A (p.Ser285Asn) c.611G>A (p.Ser204Asn) c.644G>A (p.Ser215Asn) c.662G>A (p.Ser221Asn) | gnomAD v4 |
2 | g.127426217G>C | CA348401717 | PROC | c.668G>C (p.Ser223Thr) c.121-2140G>C c.770G>C (p.Ser257Thr) n.254G>C c.851G>C (p.Ser284Thr) c.833G>C (p.Ser278Thr) c.731G>C (p.Ser244Thr) c.911G>C (p.Ser304Thr) c.1013G>C (p.Ser338Thr) c.953G>C (p.Ser318Thr) n.4368C>G c.836G>C (p.Ser279Thr) c.854G>C (p.Ser285Thr) c.611G>C (p.Ser204Thr) c.644G>C (p.Ser215Thr) c.662G>C (p.Ser221Thr) | |
2 | g.127426217G>T | CA348401715 | PROC | c.668G>T (p.Ser223Ile) c.121-2140G>T c.770G>T (p.Ser257Ile) n.254G>T c.851G>T (p.Ser284Ile) c.833G>T (p.Ser278Ile) c.731G>T (p.Ser244Ile) c.911G>T (p.Ser304Ile) c.1013G>T (p.Ser338Ile) c.953G>T (p.Ser318Ile) n.4368C>A c.836G>T (p.Ser279Ile) c.854G>T (p.Ser285Ile) c.611G>T (p.Ser204Ile) c.644G>T (p.Ser215Ile) c.662G>T (p.Ser221Ile) | |
2 | g.127426218C>A | CA55348452 | PROC | c.669C>A (p.Ser223Arg) c.121-2139C>A c.771C>A (p.Ser257Arg) n.255C>A c.852C>A (p.Ser284Arg) c.834C>A (p.Ser278Arg) c.732C>A (p.Ser244Arg) c.912C>A (p.Ser304Arg) c.1014C>A (p.Ser338Arg) c.954C>A (p.Ser318Arg) n.4367G>T c.837C>A (p.Ser279Arg) c.855C>A (p.Ser285Arg) c.612C>A (p.Ser204Arg) c.645C>A (p.Ser215Arg) c.663C>A (p.Ser221Arg) | dbSNP gnomAD v4 |
2 | g.127426218C= | CA1286883455 | PROC | c.669C= (p.Ser223=) c.121-2139C= c.771C= (p.Ser257=) n.255C= c.852C= (p.Ser284=) c.834C= (p.Ser278=) c.732C= (p.Ser244=) c.912C= (p.Ser304=) c.1014C= (p.Ser338=) c.954C= (p.Ser318=) n.4367G= c.837C= (p.Ser279=) c.855C= (p.Ser285=) c.612C= (p.Ser204=) c.645C= (p.Ser215=) c.663C= (p.Ser221=) | |
2 | g.127426218C>G | CA348401722 | PROC | c.669C>G (p.Ser223Arg) c.121-2139C>G c.771C>G (p.Ser257Arg) n.255C>G c.852C>G (p.Ser284Arg) c.834C>G (p.Ser278Arg) c.732C>G (p.Ser244Arg) c.912C>G (p.Ser304Arg) c.1014C>G (p.Ser338Arg) c.954C>G (p.Ser318Arg) n.4367G>C c.837C>G (p.Ser279Arg) c.855C>G (p.Ser285Arg) c.612C>G (p.Ser204Arg) c.645C>G (p.Ser215Arg) c.663C>G (p.Ser221Arg) | |
2 | g.127426218C>T | CA428618362 | PROC | c.669C>T (p.Ser223=) c.121-2139C>T c.771C>T (p.Ser257=) n.255C>T c.852C>T (p.Ser284=) c.834C>T (p.Ser278=) c.732C>T (p.Ser244=) c.912C>T (p.Ser304=) c.1014C>T (p.Ser338=) c.954C>T (p.Ser318=) n.4367G>A c.837C>T (p.Ser279=) c.855C>T (p.Ser285=) c.612C>T (p.Ser204=) c.645C>T (p.Ser215=) c.663C>T (p.Ser221=) | |
2 | g.127426219C>A | CA348401723 | PROC | c.670C>A (p.Pro224Thr) c.121-2138C>A c.772C>A (p.Pro258Thr) n.256C>A c.853C>A (p.Pro285Thr) c.835C>A (p.Pro279Thr) c.733C>A (p.Pro245Thr) c.913C>A (p.Pro305Thr) c.1015C>A (p.Pro339Thr) c.955C>A (p.Pro319Thr) n.4366G>T c.838C>A (p.Pro280Thr) c.856C>A (p.Pro286Thr) c.613C>A (p.Pro205Thr) c.646C>A (p.Pro216Thr) c.664C>A (p.Pro222Thr) | |
2 | g.127426219C>G | CA348401727 | PROC | c.670C>G (p.Pro224Ala) c.121-2138C>G c.772C>G (p.Pro258Ala) n.256C>G c.853C>G (p.Pro285Ala) c.835C>G (p.Pro279Ala) c.733C>G (p.Pro245Ala) c.913C>G (p.Pro305Ala) c.1015C>G (p.Pro339Ala) c.955C>G (p.Pro319Ala) n.4366G>C c.838C>G (p.Pro280Ala) c.856C>G (p.Pro286Ala) c.613C>G (p.Pro205Ala) c.646C>G (p.Pro216Ala) c.664C>G (p.Pro222Ala) | |
2 | g.127426219C>T | CA348401725 | PROC | c.670C>T (p.Pro224Ser) c.121-2138C>T c.772C>T (p.Pro258Ser) n.256C>T c.853C>T (p.Pro285Ser) c.835C>T (p.Pro279Ser) c.733C>T (p.Pro245Ser) c.913C>T (p.Pro305Ser) c.1015C>T (p.Pro339Ser) c.955C>T (p.Pro319Ser) n.4366G>A c.838C>T (p.Pro280Ser) c.856C>T (p.Pro286Ser) c.613C>T (p.Pro205Ser) c.646C>T (p.Pro216Ser) c.664C>T (p.Pro222Ser) | |
2 | g.127426220C>A | CA348401729 | PROC | c.671C>A (p.Pro224His) c.121-2137C>A c.773C>A (p.Pro258His) n.257C>A c.854C>A (p.Pro285His) c.836C>A (p.Pro279His) c.734C>A (p.Pro245His) c.914C>A (p.Pro305His) c.1016C>A (p.Pro339His) c.956C>A (p.Pro319His) n.4365G>T c.839C>A (p.Pro280His) c.857C>A (p.Pro286His) c.614C>A (p.Pro205His) c.647C>A (p.Pro216His) c.665C>A (p.Pro222His) | |
2 | g.127426220C>G | CA348401732 | PROC | c.671C>G (p.Pro224Arg) c.121-2137C>G c.773C>G (p.Pro258Arg) n.257C>G c.854C>G (p.Pro285Arg) c.836C>G (p.Pro279Arg) c.734C>G (p.Pro245Arg) c.914C>G (p.Pro305Arg) c.1016C>G (p.Pro339Arg) c.956C>G (p.Pro319Arg) n.4365G>C c.839C>G (p.Pro280Arg) c.857C>G (p.Pro286Arg) c.614C>G (p.Pro205Arg) c.647C>G (p.Pro216Arg) c.665C>G (p.Pro222Arg) | |
2 | g.127426220C>T | CA348401734 | PROC | c.671C>T (p.Pro224Leu) c.121-2137C>T c.773C>T (p.Pro258Leu) n.257C>T c.854C>T (p.Pro285Leu) c.836C>T (p.Pro279Leu) c.734C>T (p.Pro245Leu) c.914C>T (p.Pro305Leu) c.1016C>T (p.Pro339Leu) c.956C>T (p.Pro319Leu) n.4365G>A c.839C>T (p.Pro280Leu) c.857C>T (p.Pro286Leu) c.614C>T (p.Pro205Leu) c.647C>T (p.Pro216Leu) c.665C>T (p.Pro222Leu) | |
2 | g.127426221C>A | CA428618364 | PROC | c.672C>A (p.Pro224=) c.121-2136C>A c.774C>A (p.Pro258=) n.258C>A c.855C>A (p.Pro285=) c.837C>A (p.Pro279=) c.735C>A (p.Pro245=) c.915C>A (p.Pro305=) c.1017C>A (p.Pro339=) c.957C>A (p.Pro319=) n.4364G>T c.840C>A (p.Pro280=) c.858C>A (p.Pro286=) c.615C>A (p.Pro205=) c.648C>A (p.Pro216=) c.666C>A (p.Pro222=) | dbSNP |
2 | g.127426221C>G | CA428618366 | PROC | c.672C>G (p.Pro224=) c.121-2136C>G c.774C>G (p.Pro258=) n.258C>G c.855C>G (p.Pro285=) c.837C>G (p.Pro279=) c.735C>G (p.Pro245=) c.915C>G (p.Pro305=) c.1017C>G (p.Pro339=) c.957C>G (p.Pro319=) n.4364G>C c.840C>G (p.Pro280=) c.858C>G (p.Pro286=) c.615C>G (p.Pro205=) c.648C>G (p.Pro216=) c.666C>G (p.Pro222=) | |
2 | g.127426221C>T | CA428618365 | PROC | c.672C>T (p.Pro224=) c.121-2136C>T c.774C>T (p.Pro258=) n.258C>T c.855C>T (p.Pro285=) c.837C>T (p.Pro279=) c.735C>T (p.Pro245=) c.915C>T (p.Pro305=) c.1017C>T (p.Pro339=) c.957C>T (p.Pro319=) n.4364G>A c.840C>T (p.Pro280=) c.858C>T (p.Pro286=) c.615C>T (p.Pro205=) c.648C>T (p.Pro216=) c.666C>T (p.Pro222=) | |
2 | g.127426221_127426222delinsCT | CA1286883456 | PROC | c.672_673delinsCT (p.Pro224=) c.121-2136_121-2135delinsCT c.774_775delinsCT (p.Pro258=) n.258_259delinsCT c.855_856delinsCT (p.Pro285=) c.837_838delinsCT (p.Pro279=) c.735_736delinsCT (p.Pro245=) c.915_916delinsCT (p.Pro305=) c.1017_1018delinsCT (p.Pro339=) c.957_958delinsCT (p.Pro319=) n.4363_4364delinsAG c.840_841delinsCT (p.Pro280=) c.858_859delinsCT (p.Pro286=) c.615_616delinsCT (p.Pro205=) c.648_649delinsCT (p.Pro216=) c.666_667delinsCT (p.Pro222=) | |
2 | g.127426222del | CA1286883457 | PROC | c.673del (p.Trp225GlyfsTer25) c.121-2135del c.775del (p.Trp259GlyfsTer25) n.259del c.856del (p.Trp286GlyfsTer25) c.838del (p.Trp280GlyfsTer25) c.736del (p.Trp246GlyfsTer25) c.916del (p.Trp306GlyfsTer25) c.1018del (p.Trp340GlyfsTer25) c.958del (p.Trp320GlyfsTer25) n.4363del c.841del (p.Trp281GlyfsTer25) c.859del (p.Trp287GlyfsTer25) c.616del (p.Trp206GlyfsTer25) c.649del (p.Trp217GlyfsTer25) c.667del (p.Trp223GlyfsTer25) | dbSNP |
2 | g.127426222T>A | CA348401741 | PROC | c.673T>A (p.Trp225Arg) c.121-2135T>A c.775T>A (p.Trp259Arg) n.259T>A c.856T>A (p.Trp286Arg) c.838T>A (p.Trp280Arg) c.736T>A (p.Trp246Arg) c.916T>A (p.Trp306Arg) c.1018T>A (p.Trp340Arg) c.958T>A (p.Trp320Arg) n.4363A>T c.841T>A (p.Trp281Arg) c.859T>A (p.Trp287Arg) c.616T>A (p.Trp206Arg) c.649T>A (p.Trp217Arg) c.667T>A (p.Trp223Arg) | |
2 | g.127426222T>C | CA348401743 | PROC | c.673T>C (p.Trp225Arg) c.121-2135T>C c.775T>C (p.Trp259Arg) n.259T>C c.856T>C (p.Trp286Arg) c.838T>C (p.Trp280Arg) c.736T>C (p.Trp246Arg) c.916T>C (p.Trp306Arg) c.1018T>C (p.Trp340Arg) c.958T>C (p.Trp320Arg) n.4363A>G c.841T>C (p.Trp281Arg) c.859T>C (p.Trp287Arg) c.616T>C (p.Trp206Arg) c.649T>C (p.Trp217Arg) c.667T>C (p.Trp223Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.127426222T>G | CA348401744 | PROC | c.673T>G (p.Trp225Gly) c.121-2135T>G c.775T>G (p.Trp259Gly) n.259T>G c.856T>G (p.Trp286Gly) c.838T>G (p.Trp280Gly) c.736T>G (p.Trp246Gly) c.916T>G (p.Trp306Gly) c.1018T>G (p.Trp340Gly) c.958T>G (p.Trp320Gly) n.4363A>C c.841T>G (p.Trp281Gly) c.859T>G (p.Trp287Gly) c.616T>G (p.Trp206Gly) c.649T>G (p.Trp217Gly) c.667T>G (p.Trp223Gly) | ClinVar dbSNP gnomAD v4 |
2 | g.127426222T= | CA1286883458 | PROC | c.673T= (p.Trp225=) c.121-2135T= c.775T= (p.Trp259=) n.259T= c.856T= (p.Trp286=) c.838T= (p.Trp280=) c.736T= (p.Trp246=) c.916T= (p.Trp306=) c.1018T= (p.Trp340=) c.958T= (p.Trp320=) n.4363A= c.841T= (p.Trp281=) c.859T= (p.Trp287=) c.616T= (p.Trp206=) c.649T= (p.Trp217=) c.667T= (p.Trp223=) | |
2 | g.127426223G>A | CA348401747 | PROC | c.674G>A (p.Trp225Ter) c.121-2134G>A c.776G>A (p.Trp259Ter) n.260G>A c.857G>A (p.Trp286Ter) c.839G>A (p.Trp280Ter) c.737G>A (p.Trp246Ter) c.917G>A (p.Trp306Ter) c.1019G>A (p.Trp340Ter) c.959G>A (p.Trp320Ter) n.4362C>T c.842G>A (p.Trp281Ter) c.860G>A (p.Trp287Ter) c.617G>A (p.Trp206Ter) c.650G>A (p.Trp217Ter) c.668G>A (p.Trp223Ter) | |
2 | g.127426223G>C | CA348401787 | PROC | c.674G>C (p.Trp225Ser) c.121-2134G>C c.776G>C (p.Trp259Ser) n.260G>C c.857G>C (p.Trp286Ser) c.839G>C (p.Trp280Ser) c.737G>C (p.Trp246Ser) c.917G>C (p.Trp306Ser) c.1019G>C (p.Trp340Ser) c.959G>C (p.Trp320Ser) n.4362C>G c.842G>C (p.Trp281Ser) c.860G>C (p.Trp287Ser) c.617G>C (p.Trp206Ser) c.650G>C (p.Trp217Ser) c.668G>C (p.Trp223Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127426223G= | CA1286883459 | PROC | c.674G= (p.Trp225=) c.121-2134G= c.776G= (p.Trp259=) n.260G= c.857G= (p.Trp286=) c.839G= (p.Trp280=) c.737G= (p.Trp246=) c.917G= (p.Trp306=) c.1019G= (p.Trp340=) c.959G= (p.Trp320=) n.4362C= c.842G= (p.Trp281=) c.860G= (p.Trp287=) c.617G= (p.Trp206=) c.650G= (p.Trp217=) c.668G= (p.Trp223=) | |
2 | g.127426223G>T | CA348401789 | PROC | c.674G>T (p.Trp225Leu) c.121-2134G>T c.776G>T (p.Trp259Leu) n.260G>T c.857G>T (p.Trp286Leu) c.839G>T (p.Trp280Leu) c.737G>T (p.Trp246Leu) c.917G>T (p.Trp306Leu) c.1019G>T (p.Trp340Leu) c.959G>T (p.Trp320Leu) n.4362C>A c.842G>T (p.Trp281Leu) c.860G>T (p.Trp287Leu) c.617G>T (p.Trp206Leu) c.650G>T (p.Trp217Leu) c.668G>T (p.Trp223Leu) | |
2 | g.127426224G>A | CA348401792 | PROC | c.675G>A (p.Trp225Ter) c.121-2133G>A c.777G>A (p.Trp259Ter) n.261G>A c.858G>A (p.Trp286Ter) c.840G>A (p.Trp280Ter) c.738G>A (p.Trp246Ter) c.918G>A (p.Trp306Ter) c.1020G>A (p.Trp340Ter) c.960G>A (p.Trp320Ter) n.4361C>T c.843G>A (p.Trp281Ter) c.861G>A (p.Trp287Ter) c.618G>A (p.Trp206Ter) c.651G>A (p.Trp217Ter) c.669G>A (p.Trp223Ter) | ClinVar dbSNP |
2 | g.127426224G>C | CA1859405 | PROC | c.675G>C (p.Trp225Cys) c.121-2133G>C c.777G>C (p.Trp259Cys) n.261G>C c.858G>C (p.Trp286Cys) c.840G>C (p.Trp280Cys) c.738G>C (p.Trp246Cys) c.918G>C (p.Trp306Cys) c.1020G>C (p.Trp340Cys) c.960G>C (p.Trp320Cys) n.4361C>G c.843G>C (p.Trp281Cys) c.861G>C (p.Trp287Cys) c.618G>C (p.Trp206Cys) c.651G>C (p.Trp217Cys) c.669G>C (p.Trp223Cys) | dbSNP ExAC gnomAD v2 |
2 | g.127426224G= | CA1286883460 | PROC | c.675G= (p.Trp225=) c.121-2133G= c.777G= (p.Trp259=) n.261G= c.858G= (p.Trp286=) c.840G= (p.Trp280=) c.738G= (p.Trp246=) c.918G= (p.Trp306=) c.1020G= (p.Trp340=) c.960G= (p.Trp320=) n.4361C= c.843G= (p.Trp281=) c.861G= (p.Trp287=) c.618G= (p.Trp206=) c.651G= (p.Trp217=) c.669G= (p.Trp223=) | |
2 | g.127426224G>T | CA348401801 | PROC | c.675G>T (p.Trp225Cys) c.121-2133G>T c.777G>T (p.Trp259Cys) n.261G>T c.858G>T (p.Trp286Cys) c.840G>T (p.Trp280Cys) c.738G>T (p.Trp246Cys) c.918G>T (p.Trp306Cys) c.1020G>T (p.Trp340Cys) c.960G>T (p.Trp320Cys) n.4361C>A c.843G>T (p.Trp281Cys) c.861G>T (p.Trp287Cys) c.618G>T (p.Trp206Cys) c.651G>T (p.Trp217Cys) c.669G>T (p.Trp223Cys) | |
2 | g.127426225C>A | CA348401817 | PROC | c.676C>A (p.Gln226Lys) c.121-2132C>A c.778C>A (p.Gln260Lys) n.262C>A c.859C>A (p.Gln287Lys) c.841C>A (p.Gln281Lys) c.739C>A (p.Gln247Lys) c.919C>A (p.Gln307Lys) c.1021C>A (p.Gln341Lys) c.961C>A (p.Gln321Lys) n.4360G>T c.844C>A (p.Gln282Lys) c.862C>A (p.Gln288Lys) c.619C>A (p.Gln207Lys) c.652C>A (p.Gln218Lys) c.670C>A (p.Gln224Lys) | |
2 | g.127426225C>G | CA348401812 | PROC | c.676C>G (p.Gln226Glu) c.121-2132C>G c.778C>G (p.Gln260Glu) n.262C>G c.859C>G (p.Gln287Glu) c.841C>G (p.Gln281Glu) c.739C>G (p.Gln247Glu) c.919C>G (p.Gln307Glu) c.1021C>G (p.Gln341Glu) c.961C>G (p.Gln321Glu) n.4360G>C c.844C>G (p.Gln282Glu) c.862C>G (p.Gln288Glu) c.619C>G (p.Gln207Glu) c.652C>G (p.Gln218Glu) c.670C>G (p.Gln224Glu) | |
2 | g.127426225C>T | CA348401814 | PROC | c.676C>T (p.Gln226Ter) c.121-2132C>T c.778C>T (p.Gln260Ter) n.262C>T c.859C>T (p.Gln287Ter) c.841C>T (p.Gln281Ter) c.739C>T (p.Gln247Ter) c.919C>T (p.Gln307Ter) c.1021C>T (p.Gln341Ter) c.961C>T (p.Gln321Ter) n.4360G>A c.844C>T (p.Gln282Ter) c.862C>T (p.Gln288Ter) c.619C>T (p.Gln207Ter) c.652C>T (p.Gln218Ter) c.670C>T (p.Gln224Ter) | |
2 | g.127426226A>C | CA348401820 | PROC | c.677A>C (p.Gln226Pro) c.121-2131A>C c.779A>C (p.Gln260Pro) n.263A>C c.860A>C (p.Gln287Pro) c.842A>C (p.Gln281Pro) c.740A>C (p.Gln247Pro) c.920A>C (p.Gln307Pro) c.1022A>C (p.Gln341Pro) c.962A>C (p.Gln321Pro) n.4359T>G c.845A>C (p.Gln282Pro) c.863A>C (p.Gln288Pro) c.620A>C (p.Gln207Pro) c.653A>C (p.Gln218Pro) c.671A>C (p.Gln224Pro) | |
2 | g.127426226A>G | CA348401823 | PROC | c.677A>G (p.Gln226Arg) c.121-2131A>G c.779A>G (p.Gln260Arg) n.263A>G c.860A>G (p.Gln287Arg) c.842A>G (p.Gln281Arg) c.740A>G (p.Gln247Arg) c.920A>G (p.Gln307Arg) c.1022A>G (p.Gln341Arg) c.962A>G (p.Gln321Arg) n.4359T>C c.845A>G (p.Gln282Arg) c.863A>G (p.Gln288Arg) c.620A>G (p.Gln207Arg) c.653A>G (p.Gln218Arg) c.671A>G (p.Gln224Arg) | ClinVar dbSNP |
2 | g.127426226A>T | CA348401825 | PROC | c.677A>T (p.Gln226Leu) c.121-2131A>T c.779A>T (p.Gln260Leu) n.263A>T c.860A>T (p.Gln287Leu) c.842A>T (p.Gln281Leu) c.740A>T (p.Gln247Leu) c.920A>T (p.Gln307Leu) c.1022A>T (p.Gln341Leu) c.962A>T (p.Gln321Leu) n.4359T>A c.845A>T (p.Gln282Leu) c.863A>T (p.Gln288Leu) c.620A>T (p.Gln207Leu) c.653A>T (p.Gln218Leu) c.671A>T (p.Gln224Leu) | |
2 | g.127426227G>A | CA428618368 | PROC | c.678G>A (p.Gln226=) c.121-2130G>A c.780G>A (p.Gln260=) n.264G>A c.861G>A (p.Gln287=) c.843G>A (p.Gln281=) c.741G>A (p.Gln247=) c.921G>A (p.Gln307=) c.1023G>A (p.Gln341=) c.963G>A (p.Gln321=) n.4358C>T c.846G>A (p.Gln282=) c.864G>A (p.Gln288=) c.621G>A (p.Gln207=) c.654G>A (p.Gln218=) c.672G>A (p.Gln224=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.127426227G>C | CA114416 | PROC | c.678G>C (p.Gln226His) c.121-2130G>C c.780G>C (p.Gln260His) n.264G>C c.861G>C (p.Gln287His) c.843G>C (p.Gln281His) c.741G>C (p.Gln247His) c.921G>C (p.Gln307His) c.1023G>C (p.Gln341His) c.963G>C (p.Gln321His) n.4358C>G c.846G>C (p.Gln282His) c.864G>C (p.Gln288His) c.621G>C (p.Gln207His) c.654G>C (p.Gln218His) c.672G>C (p.Gln224His) | ClinVar dbSNP |
2 | g.127426227G= | CA1286883461 | PROC | c.678G= (p.Gln226=) c.121-2130G= c.780G= (p.Gln260=) n.264G= c.861G= (p.Gln287=) c.843G= (p.Gln281=) c.741G= (p.Gln247=) c.921G= (p.Gln307=) c.1023G= (p.Gln341=) c.963G= (p.Gln321=) n.4358C= c.846G= (p.Gln282=) c.864G= (p.Gln288=) c.621G= (p.Gln207=) c.654G= (p.Gln218=) c.672G= (p.Gln224=) | |
2 | g.127426227G>T | CA348401830 | PROC | c.678G>T (p.Gln226His) c.121-2130G>T c.780G>T (p.Gln260His) n.264G>T c.861G>T (p.Gln287His) c.843G>T (p.Gln281His) c.741G>T (p.Gln247His) c.921G>T (p.Gln307His) c.1023G>T (p.Gln341His) c.963G>T (p.Gln321His) n.4358C>A c.846G>T (p.Gln282His) c.864G>T (p.Gln288His) c.621G>T (p.Gln207His) c.654G>T (p.Gln218His) c.672G>T (p.Gln224His) | |
2 | g.127426228G>A | CA1859406 | PROC | c.678+1G>A (n.678+1G>A) c.121-2129G>A c.780+1G>A (n.780+1G>A) n.265G>A c.861+1G>A (n.861+1G>A) c.843+1G>A (n.843+1G>A) c.741+1G>A (n.741+1G>A) c.921+1G>A (n.921+1G>A) c.1023+1G>A (n.1023+1G>A) c.963+1G>A (n.963+1G>A) n.4357C>T c.846+1G>A (n.846+1G>A) c.864+1G>A (n.864+1G>A) c.621+1G>A (n.621+1G>A) c.654+1G>A (n.654+1G>A) c.672+1G>A (n.672+1G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127426228G>C | CA348401835 | PROC | c.678+1G>C (n.678+1G>C) c.121-2129G>C c.780+1G>C (n.780+1G>C) n.265G>C c.861+1G>C (n.861+1G>C) c.843+1G>C (n.843+1G>C) c.741+1G>C (n.741+1G>C) c.921+1G>C (n.921+1G>C) c.1023+1G>C (n.1023+1G>C) c.963+1G>C (n.963+1G>C) n.4357C>G c.846+1G>C (n.846+1G>C) c.864+1G>C (n.864+1G>C) c.621+1G>C (n.621+1G>C) c.654+1G>C (n.654+1G>C) c.672+1G>C (n.672+1G>C) | gnomAD v4 |
2 | g.127426228G= | CA1286883462 | PROC | c.678+1G= (n.678+1G=) c.121-2129G= c.780+1G= (n.780+1G=) n.265G= c.861+1G= (n.861+1G=) c.843+1G= (n.843+1G=) c.741+1G= (n.741+1G=) c.921+1G= (n.921+1G=) c.1023+1G= (n.1023+1G=) c.963+1G= (n.963+1G=) n.4357C= c.846+1G= (n.846+1G=) c.864+1G= (n.864+1G=) c.621+1G= (n.621+1G=) c.654+1G= (n.654+1G=) c.672+1G= (n.672+1G=) | |
2 | g.127426228G>T | CA348401837 | PROC | c.678+1G>T (n.678+1G>T) c.121-2129G>T c.780+1G>T (n.780+1G>T) n.265G>T c.861+1G>T (n.861+1G>T) c.843+1G>T (n.843+1G>T) c.741+1G>T (n.741+1G>T) c.921+1G>T (n.921+1G>T) c.1023+1G>T (n.1023+1G>T) c.963+1G>T (n.963+1G>T) n.4357C>A c.846+1G>T (n.846+1G>T) c.864+1G>T (n.864+1G>T) c.621+1G>T (n.621+1G>T) c.654+1G>T (n.654+1G>T) c.672+1G>T (n.672+1G>T) | |
2 | g.127426229T>A | CA348401840 | PROC | c.678+2T>A (n.678+2T>A) c.121-2128T>A c.780+2T>A (n.780+2T>A) n.266T>A c.861+2T>A (n.861+2T>A) c.843+2T>A (n.843+2T>A) c.741+2T>A (n.741+2T>A) c.921+2T>A (n.921+2T>A) c.1023+2T>A (n.1023+2T>A) c.963+2T>A (n.963+2T>A) n.4356A>T c.846+2T>A (n.846+2T>A) c.864+2T>A (n.864+2T>A) c.621+2T>A (n.621+2T>A) c.654+2T>A (n.654+2T>A) c.672+2T>A (n.672+2T>A) | |
2 | g.127426229T>C | CA348401842 | PROC | c.678+2T>C (n.678+2T>C) c.121-2128T>C c.780+2T>C (n.780+2T>C) n.266T>C c.861+2T>C (n.861+2T>C) c.843+2T>C (n.843+2T>C) c.741+2T>C (n.741+2T>C) c.921+2T>C (n.921+2T>C) c.1023+2T>C (n.1023+2T>C) c.963+2T>C (n.963+2T>C) n.4356A>G c.846+2T>C (n.846+2T>C) c.864+2T>C (n.864+2T>C) c.621+2T>C (n.621+2T>C) c.654+2T>C (n.654+2T>C) c.672+2T>C (n.672+2T>C) | |
2 | g.127426229T>G | CA348401844 | PROC | c.678+2T>G (n.678+2T>G) c.121-2128T>G c.780+2T>G (n.780+2T>G) n.266T>G c.861+2T>G (n.861+2T>G) c.843+2T>G (n.843+2T>G) c.741+2T>G (n.741+2T>G) c.921+2T>G (n.921+2T>G) c.1023+2T>G (n.1023+2T>G) c.963+2T>G (n.963+2T>G) n.4356A>C c.846+2T>G (n.846+2T>G) c.864+2T>G (n.864+2T>G) c.621+2T>G (n.621+2T>G) c.654+2T>G (n.654+2T>G) c.672+2T>G (n.672+2T>G) | |
2 | g.127426230G>A | CA55348490 | PROC | c.678+3G>A (n.678+3G>A) c.121-2127G>A c.780+3G>A (n.780+3G>A) n.267G>A c.861+3G>A (n.861+3G>A) c.843+3G>A (n.843+3G>A) c.741+3G>A (n.741+3G>A) c.921+3G>A (n.921+3G>A) c.1023+3G>A (n.1023+3G>A) c.963+3G>A (n.963+3G>A) n.4355C>T c.846+3G>A (n.846+3G>A) c.864+3G>A (n.864+3G>A) c.621+3G>A (n.621+3G>A) c.654+3G>A (n.654+3G>A) c.672+3G>A (n.672+3G>A) | dbSNP |
2 | g.127426230G= | CA1286883463 | PROC | c.678+3G= (n.678+3G=) c.121-2127G= c.780+3G= (n.780+3G=) n.267G= c.861+3G= (n.861+3G=) c.843+3G= (n.843+3G=) c.741+3G= (n.741+3G=) c.921+3G= (n.921+3G=) c.1023+3G= (n.1023+3G=) c.963+3G= (n.963+3G=) n.4355C= c.846+3G= (n.846+3G=) c.864+3G= (n.864+3G=) c.621+3G= (n.621+3G=) c.654+3G= (n.654+3G=) c.672+3G= (n.672+3G=) | |
2 | g.127426231G>C | CA1286883464 | PROC | c.678+4G>C (n.678+4G>C) c.121-2126G>C c.780+4G>C (n.780+4G>C) n.268G>C c.861+4G>C (n.861+4G>C) c.843+4G>C (n.843+4G>C) c.741+4G>C (n.741+4G>C) c.921+4G>C (n.921+4G>C) c.1023+4G>C (n.1023+4G>C) c.963+4G>C (n.963+4G>C) n.4354C>G c.846+4G>C (n.846+4G>C) c.864+4G>C (n.864+4G>C) c.621+4G>C (n.621+4G>C) c.654+4G>C (n.654+4G>C) c.672+4G>C (n.672+4G>C) | dbSNP |
2 | g.127426231G= | CA1286883465 | PROC | c.678+4G= (n.678+4G=) c.121-2126G= c.780+4G= (n.780+4G=) n.268G= c.861+4G= (n.861+4G=) c.843+4G= (n.843+4G=) c.741+4G= (n.741+4G=) c.921+4G= (n.921+4G=) c.1023+4G= (n.1023+4G=) c.963+4G= (n.963+4G=) n.4354C= c.846+4G= (n.846+4G=) c.864+4G= (n.864+4G=) c.621+4G= (n.621+4G=) c.654+4G= (n.654+4G=) c.672+4G= (n.672+4G=) | |
2 | g.127426232G>T | CA2660996884 | PROC | c.678+5G>T (n.678+5G>T) c.121-2125G>T c.780+5G>T (n.780+5G>T) n.269G>T c.861+5G>T (n.861+5G>T) c.843+5G>T (n.843+5G>T) c.741+5G>T (n.741+5G>T) c.921+5G>T (n.921+5G>T) c.1023+5G>T (n.1023+5G>T) c.963+5G>T (n.963+5G>T) n.4353C>A c.846+5G>T (n.846+5G>T) c.864+5G>T (n.864+5G>T) c.621+5G>T (n.621+5G>T) c.654+5G>T (n.654+5G>T) c.672+5G>T (n.672+5G>T) | gnomAD v4 |
2 | g.127426234G>A | CA55348491 | PROC | c.678+7G>A (n.678+7G>A) c.121-2123G>A c.780+7G>A (n.780+7G>A) n.271G>A c.861+7G>A (n.861+7G>A) c.843+7G>A (n.843+7G>A) c.741+7G>A (n.741+7G>A) n.1640C>T c.921+7G>A (n.921+7G>A) c.1023+7G>A (n.1023+7G>A) c.963+7G>A (n.963+7G>A) n.4351C>T c.846+7G>A (n.846+7G>A) c.864+7G>A (n.864+7G>A) c.621+7G>A (n.621+7G>A) c.654+7G>A (n.654+7G>A) c.672+7G>A (n.672+7G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127426234G= | CA1286883466 | PROC | c.678+7G= (n.678+7G=) c.121-2123G= c.780+7G= (n.780+7G=) n.271G= c.861+7G= (n.861+7G=) c.843+7G= (n.843+7G=) c.741+7G= (n.741+7G=) n.1640C= c.921+7G= (n.921+7G=) c.1023+7G= (n.1023+7G=) c.963+7G= (n.963+7G=) n.4351C= c.846+7G= (n.846+7G=) c.864+7G= (n.864+7G=) c.621+7G= (n.621+7G=) c.654+7G= (n.654+7G=) c.672+7G= (n.672+7G=) | |
2 | g.127426236C= | CA1286883467 | PROC | c.678+9C= (n.678+9C=) c.121-2121C= c.780+9C= (n.780+9C=) n.273C= c.861+9C= (n.861+9C=) c.843+9C= (n.843+9C=) c.741+9C= (n.741+9C=) n.1638G= c.921+9C= (n.921+9C=) c.1023+9C= (n.1023+9C=) c.963+9C= (n.963+9C=) n.4349G= c.846+9C= (n.846+9C=) c.864+9C= (n.864+9C=) c.621+9C= (n.621+9C=) c.654+9C= (n.654+9C=) c.672+9C= (n.672+9C=) | |
2 | g.127426236C>T | CA55348498 | PROC | c.678+9C>T (n.678+9C>T) c.121-2121C>T c.780+9C>T (n.780+9C>T) n.273C>T c.861+9C>T (n.861+9C>T) c.843+9C>T (n.843+9C>T) c.741+9C>T (n.741+9C>T) n.1638G>A c.921+9C>T (n.921+9C>T) c.1023+9C>T (n.1023+9C>T) c.963+9C>T (n.963+9C>T) n.4349G>A c.846+9C>T (n.846+9C>T) c.864+9C>T (n.864+9C>T) c.621+9C>T (n.621+9C>T) c.654+9C>T (n.654+9C>T) c.672+9C>T (n.672+9C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.127426237G>A | CA1859407 | PROC | c.678+10G>A (n.678+10G>A) c.121-2120G>A c.780+10G>A (n.780+10G>A) n.274G>A c.861+10G>A (n.861+10G>A) c.843+10G>A (n.843+10G>A) c.741+10G>A (n.741+10G>A) n.1637C>T c.921+10G>A (n.921+10G>A) c.1023+10G>A (n.1023+10G>A) c.963+10G>A (n.963+10G>A) n.4348C>T c.846+10G>A (n.846+10G>A) c.864+10G>A (n.864+10G>A) c.621+10G>A (n.621+10G>A) c.654+10G>A (n.654+10G>A) c.672+10G>A (n.672+10G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127426237G= | CA1286883468 | PROC | c.678+10G= (n.678+10G=) c.121-2120G= c.780+10G= (n.780+10G=) n.274G= c.861+10G= (n.861+10G=) c.843+10G= (n.843+10G=) c.741+10G= (n.741+10G=) n.1637C= c.921+10G= (n.921+10G=) c.1023+10G= (n.1023+10G=) c.963+10G= (n.963+10G=) n.4348C= c.846+10G= (n.846+10G=) c.864+10G= (n.864+10G=) c.621+10G= (n.621+10G=) c.654+10G= (n.654+10G=) c.672+10G= (n.672+10G=) | |
2 | g.127426239G>A | CA535639830 | PROC | c.678+12G>A (n.678+12G>A) c.121-2118G>A c.780+12G>A (n.780+12G>A) n.276G>A c.861+12G>A (n.861+12G>A) c.843+12G>A (n.843+12G>A) c.741+12G>A (n.741+12G>A) n.1635C>T c.921+12G>A (n.921+12G>A) c.1023+12G>A (n.1023+12G>A) c.963+12G>A (n.963+12G>A) n.4346C>T c.846+12G>A (n.846+12G>A) c.864+12G>A (n.864+12G>A) c.621+12G>A (n.621+12G>A) c.654+12G>A (n.654+12G>A) c.672+12G>A (n.672+12G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127426239G>C | CA2577090376 | PROC | c.678+12G>C (n.678+12G>C) c.121-2118G>C c.780+12G>C (n.780+12G>C) n.276G>C c.861+12G>C (n.861+12G>C) c.843+12G>C (n.843+12G>C) c.741+12G>C (n.741+12G>C) n.1635C>G c.921+12G>C (n.921+12G>C) c.1023+12G>C (n.1023+12G>C) c.963+12G>C (n.963+12G>C) n.4346C>G c.846+12G>C (n.846+12G>C) c.864+12G>C (n.864+12G>C) c.621+12G>C (n.621+12G>C) c.654+12G>C (n.654+12G>C) c.672+12G>C (n.672+12G>C) | |
2 | g.127426239G= | CA1286883469 | PROC | c.678+12G= (n.678+12G=) c.121-2118G= c.780+12G= (n.780+12G=) n.276G= c.861+12G= (n.861+12G=) c.843+12G= (n.843+12G=) c.741+12G= (n.741+12G=) n.1635C= c.921+12G= (n.921+12G=) c.1023+12G= (n.1023+12G=) c.963+12G= (n.963+12G=) n.4346C= c.846+12G= (n.846+12G=) c.864+12G= (n.864+12G=) c.621+12G= (n.621+12G=) c.654+12G= (n.654+12G=) c.672+12G= (n.672+12G=) | |
2 | g.127426241C= | CA1286883470 | PROC | c.678+14C= (n.678+14C=) c.121-2116C= c.780+14C= (n.780+14C=) n.278C= c.861+14C= (n.861+14C=) c.843+14C= (n.843+14C=) c.741+14C= (n.741+14C=) n.1633G= c.921+14C= (n.921+14C=) c.1023+14C= (n.1023+14C=) c.963+14C= (n.963+14C=) n.4344G= c.846+14C= (n.846+14C=) c.864+14C= (n.864+14C=) c.621+14C= (n.621+14C=) c.654+14C= (n.654+14C=) c.672+14C= (n.672+14C=) | |
2 | g.127426241C>T | CA1859408 | PROC | c.678+14C>T (n.678+14C>T) c.121-2116C>T c.780+14C>T (n.780+14C>T) n.278C>T c.861+14C>T (n.861+14C>T) c.843+14C>T (n.843+14C>T) c.741+14C>T (n.741+14C>T) n.1633G>A c.921+14C>T (n.921+14C>T) c.1023+14C>T (n.1023+14C>T) c.963+14C>T (n.963+14C>T) n.4344G>A c.846+14C>T (n.846+14C>T) c.864+14C>T (n.864+14C>T) c.621+14C>T (n.621+14C>T) c.654+14C>T (n.654+14C>T) c.672+14C>T (n.672+14C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127426244C>T | CA2660996885 | PROC | c.678+17C>T (n.678+17C>T) c.121-2113C>T c.780+17C>T (n.780+17C>T) n.281C>T c.861+17C>T (n.861+17C>T) c.843+17C>T (n.843+17C>T) c.741+17C>T (n.741+17C>T) n.1630G>A c.921+17C>T (n.921+17C>T) c.1023+17C>T (n.1023+17C>T) c.963+17C>T (n.963+17C>T) n.4341G>A c.846+17C>T (n.846+17C>T) c.864+17C>T (n.864+17C>T) c.621+17C>T (n.621+17C>T) c.654+17C>T (n.654+17C>T) c.672+17C>T (n.672+17C>T) | gnomAD v4 |
2 | g.127426246C>T | CA2660996886 | PROC | c.678+19C>T (n.678+19C>T) c.121-2111C>T c.780+19C>T (n.780+19C>T) n.283C>T c.861+19C>T (n.861+19C>T) c.843+19C>T (n.843+19C>T) c.741+19C>T (n.741+19C>T) n.1628G>A c.921+19C>T (n.921+19C>T) c.1023+19C>T (n.1023+19C>T) c.963+19C>T (n.963+19C>T) n.4339G>A c.846+19C>T (n.846+19C>T) c.864+19C>T (n.864+19C>T) c.621+19C>T (n.621+19C>T) c.654+19C>T (n.654+19C>T) c.672+19C>T (n.672+19C>T) | gnomAD v4 |
2 | g.127426247C= | CA1286883471 | PROC | c.678+20C= (n.678+20C=) c.121-2110C= c.780+20C= (n.780+20C=) n.284C= c.861+20C= (n.861+20C=) c.843+20C= (n.843+20C=) c.741+20C= (n.741+20C=) n.1627G= c.921+20C= (n.921+20C=) c.1023+20C= (n.1023+20C=) c.963+20C= (n.963+20C=) n.4338G= c.846+20C= (n.846+20C=) c.864+20C= (n.864+20C=) c.621+20C= (n.621+20C=) c.654+20C= (n.654+20C=) c.672+20C= (n.672+20C=) | |
2 | g.127426247C>T | CA1859409 | PROC | c.678+20C>T (n.678+20C>T) c.121-2110C>T c.780+20C>T (n.780+20C>T) n.284C>T c.861+20C>T (n.861+20C>T) c.843+20C>T (n.843+20C>T) c.741+20C>T (n.741+20C>T) n.1627G>A c.921+20C>T (n.921+20C>T) c.1023+20C>T (n.1023+20C>T) c.963+20C>T (n.963+20C>T) n.4338G>A c.846+20C>T (n.846+20C>T) c.864+20C>T (n.864+20C>T) c.621+20C>T (n.621+20C>T) c.654+20C>T (n.654+20C>T) c.672+20C>T (n.672+20C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127426248G>A | CA1859410 | PROC | c.678+21G>A (n.678+21G>A) c.121-2109G>A c.780+21G>A (n.780+21G>A) n.285G>A c.861+21G>A (n.861+21G>A) c.843+21G>A (n.843+21G>A) c.741+21G>A (n.741+21G>A) n.1626C>T c.921+21G>A (n.921+21G>A) c.1023+21G>A (n.1023+21G>A) c.963+21G>A (n.963+21G>A) n.4337C>T c.846+21G>A (n.846+21G>A) c.864+21G>A (n.864+21G>A) c.621+21G>A (n.621+21G>A) c.654+21G>A (n.654+21G>A) c.672+21G>A (n.672+21G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127426248G>C | CA2577090377 | PROC | c.678+21G>C (n.678+21G>C) c.121-2109G>C c.780+21G>C (n.780+21G>C) n.285G>C c.861+21G>C (n.861+21G>C) c.843+21G>C (n.843+21G>C) c.741+21G>C (n.741+21G>C) n.1626C>G c.921+21G>C (n.921+21G>C) c.1023+21G>C (n.1023+21G>C) c.963+21G>C (n.963+21G>C) n.4337C>G c.846+21G>C (n.846+21G>C) c.864+21G>C (n.864+21G>C) c.621+21G>C (n.621+21G>C) c.654+21G>C (n.654+21G>C) c.672+21G>C (n.672+21G>C) | gnomAD v4 |
2 | g.127426248G= | CA1286883472 | PROC | c.678+21G= (n.678+21G=) c.121-2109G= c.780+21G= (n.780+21G=) n.285G= c.861+21G= (n.861+21G=) c.843+21G= (n.843+21G=) c.741+21G= (n.741+21G=) n.1626C= c.921+21G= (n.921+21G=) c.1023+21G= (n.1023+21G=) c.963+21G= (n.963+21G=) n.4337C= c.846+21G= (n.846+21G=) c.864+21G= (n.864+21G=) c.621+21G= (n.621+21G=) c.654+21G= (n.654+21G=) c.672+21G= (n.672+21G=) | |
2 | g.127426249G>C | CA1859411 | PROC | c.678+22G>C (n.678+22G>C) c.121-2108G>C c.780+22G>C (n.780+22G>C) n.286G>C c.861+22G>C (n.861+22G>C) c.843+22G>C (n.843+22G>C) c.741+22G>C (n.741+22G>C) n.1625C>G c.921+22G>C (n.921+22G>C) c.1023+22G>C (n.1023+22G>C) c.963+22G>C (n.963+22G>C) n.4336C>G c.846+22G>C (n.846+22G>C) c.864+22G>C (n.864+22G>C) c.621+22G>C (n.621+22G>C) c.654+22G>C (n.654+22G>C) c.672+22G>C (n.672+22G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127426249G= | CA1286883473 | PROC | c.678+22G= (n.678+22G=) c.121-2108G= c.780+22G= (n.780+22G=) n.286G= c.861+22G= (n.861+22G=) c.843+22G= (n.843+22G=) c.741+22G= (n.741+22G=) n.1625C= c.921+22G= (n.921+22G=) c.1023+22G= (n.1023+22G=) c.963+22G= (n.963+22G=) n.4336C= c.846+22G= (n.846+22G=) c.864+22G= (n.864+22G=) c.621+22G= (n.621+22G=) c.654+22G= (n.654+22G=) c.672+22G= (n.672+22G=) | |
2 | g.127426250C>T | CA2660996887 | PROC | c.678+23C>T (n.678+23C>T) c.121-2107C>T c.780+23C>T (n.780+23C>T) n.287C>T c.861+23C>T (n.861+23C>T) c.843+23C>T (n.843+23C>T) c.741+23C>T (n.741+23C>T) n.1624G>A c.921+23C>T (n.921+23C>T) c.1023+23C>T (n.1023+23C>T) c.963+23C>T (n.963+23C>T) n.4335G>A c.846+23C>T (n.846+23C>T) c.864+23C>T (n.864+23C>T) c.621+23C>T (n.621+23C>T) c.654+23C>T (n.654+23C>T) c.672+23C>T (n.672+23C>T) | gnomAD v4 |
2 | g.127426252G>A | CA2660996888 | PROC | c.678+25G>A (n.678+25G>A) c.121-2105G>A c.780+25G>A (n.780+25G>A) n.289G>A c.861+25G>A (n.861+25G>A) c.843+25G>A (n.843+25G>A) c.741+25G>A (n.741+25G>A) n.1622C>T c.921+25G>A (n.921+25G>A) c.1023+25G>A (n.1023+25G>A) c.963+25G>A (n.963+25G>A) n.4333C>T c.846+25G>A (n.846+25G>A) c.864+25G>A (n.864+25G>A) c.621+25G>A (n.621+25G>A) c.654+25G>A (n.654+25G>A) c.672+25G>A (n.672+25G>A) | gnomAD v4 |
2 | g.127426252G>C | CA55348551 | PROC | c.678+25G>C (n.678+25G>C) c.121-2105G>C c.780+25G>C (n.780+25G>C) n.289G>C c.861+25G>C (n.861+25G>C) c.843+25G>C (n.843+25G>C) c.741+25G>C (n.741+25G>C) n.1622C>G c.921+25G>C (n.921+25G>C) c.1023+25G>C (n.1023+25G>C) c.963+25G>C (n.963+25G>C) n.4333C>G c.846+25G>C (n.846+25G>C) c.864+25G>C (n.864+25G>C) c.621+25G>C (n.621+25G>C) c.654+25G>C (n.654+25G>C) c.672+25G>C (n.672+25G>C) | dbSNP |
2 | g.127426252G= | CA1286883474 | PROC | c.678+25G= (n.678+25G=) c.121-2105G= c.780+25G= (n.780+25G=) n.289G= c.861+25G= (n.861+25G=) c.843+25G= (n.843+25G=) c.741+25G= (n.741+25G=) n.1622C= c.921+25G= (n.921+25G=) c.1023+25G= (n.1023+25G=) c.963+25G= (n.963+25G=) n.4333C= c.846+25G= (n.846+25G=) c.864+25G= (n.864+25G=) c.621+25G= (n.621+25G=) c.654+25G= (n.654+25G=) c.672+25G= (n.672+25G=) | |
2 | g.127426253C= | CA1286883475 | PROC | c.678+26C= (n.678+26C=) c.121-2104C= c.780+26C= (n.780+26C=) n.290C= c.861+26C= (n.861+26C=) c.843+26C= (n.843+26C=) c.741+26C= (n.741+26C=) n.1621G= c.921+26C= (n.921+26C=) c.1023+26C= (n.1023+26C=) c.963+26C= (n.963+26C=) n.4332G= c.846+26C= (n.846+26C=) c.864+26C= (n.864+26C=) c.621+26C= (n.621+26C=) c.654+26C= (n.654+26C=) c.672+26C= (n.672+26C=) | |
2 | g.127426253C>T | CA535639833 | PROC | c.678+26C>T (n.678+26C>T) c.121-2104C>T c.780+26C>T (n.780+26C>T) n.290C>T c.861+26C>T (n.861+26C>T) c.843+26C>T (n.843+26C>T) c.741+26C>T (n.741+26C>T) n.1621G>A c.921+26C>T (n.921+26C>T) c.1023+26C>T (n.1023+26C>T) c.963+26C>T (n.963+26C>T) n.4332G>A c.846+26C>T (n.846+26C>T) c.864+26C>T (n.864+26C>T) c.621+26C>T (n.621+26C>T) c.654+26C>T (n.654+26C>T) c.672+26C>T (n.672+26C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127426254T>C | CA55348552 | PROC | c.678+27T>C (n.678+27T>C) c.121-2103T>C c.780+27T>C (n.780+27T>C) n.291T>C c.861+27T>C (n.861+27T>C) c.843+27T>C (n.843+27T>C) c.741+27T>C (n.741+27T>C) n.1620A>G c.921+27T>C (n.921+27T>C) c.1023+27T>C (n.1023+27T>C) c.963+27T>C (n.963+27T>C) n.4331A>G c.846+27T>C (n.846+27T>C) c.864+27T>C (n.864+27T>C) c.621+27T>C (n.621+27T>C) c.654+27T>C (n.654+27T>C) c.672+27T>C (n.672+27T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127426254T= | CA1286883476 | PROC | c.678+27T= (n.678+27T=) c.121-2103T= c.780+27T= (n.780+27T=) n.291T= c.861+27T= (n.861+27T=) c.843+27T= (n.843+27T=) c.741+27T= (n.741+27T=) n.1620A= c.921+27T= (n.921+27T=) c.1023+27T= (n.1023+27T=) c.963+27T= (n.963+27T=) n.4331A= c.846+27T= (n.846+27T=) c.864+27T= (n.864+27T=) c.621+27T= (n.621+27T=) c.654+27T= (n.654+27T=) c.672+27T= (n.672+27T=) | |
2 | g.127426255C= | CA1286883477 | PROC | c.678+28C= (n.678+28C=) c.121-2102C= c.780+28C= (n.780+28C=) n.292C= c.861+28C= (n.861+28C=) c.843+28C= (n.843+28C=) c.741+28C= (n.741+28C=) n.1619G= c.921+28C= (n.921+28C=) c.1023+28C= (n.1023+28C=) c.963+28C= (n.963+28C=) n.4330G= c.846+28C= (n.846+28C=) c.864+28C= (n.864+28C=) c.621+28C= (n.621+28C=) c.654+28C= (n.654+28C=) c.672+28C= (n.672+28C=) | |
2 | g.127426255C>T | CA1859412 | PROC | c.678+28C>T (n.678+28C>T) c.121-2102C>T c.780+28C>T (n.780+28C>T) n.292C>T c.861+28C>T (n.861+28C>T) c.843+28C>T (n.843+28C>T) c.741+28C>T (n.741+28C>T) n.1619G>A c.921+28C>T (n.921+28C>T) c.1023+28C>T (n.1023+28C>T) c.963+28C>T (n.963+28C>T) n.4330G>A c.846+28C>T (n.846+28C>T) c.864+28C>T (n.864+28C>T) c.621+28C>T (n.621+28C>T) c.654+28C>T (n.654+28C>T) c.672+28C>T (n.672+28C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127426255_127426256insGC | CA2660996889 | PROC | c.678+28_678+29insGC (n.678+28_678+29insGC) c.121-2102_121-2101insGC c.780+28_780+29insGC (n.780+28_780+29insGC) n.292_293insGC c.861+28_861+29insGC (n.861+28_861+29insGC) c.843+28_843+29insGC (n.843+28_843+29insGC) c.741+28_741+29insGC (n.741+28_741+29insGC) n.1619_1620insCG c.921+28_921+29insGC (n.921+28_921+29insGC) c.1023+28_1023+29insGC (n.1023+28_1023+29insGC) c.963+28_963+29insGC (n.963+28_963+29insGC) n.4330_4331insCG c.846+28_846+29insGC (n.846+28_846+29insGC) c.864+28_864+29insGC (n.864+28_864+29insGC) c.621+28_621+29insGC (n.621+28_621+29insGC) c.654+28_654+29insGC (n.654+28_654+29insGC) c.672+28_672+29insGC (n.672+28_672+29insGC) | gnomAD v4 |
2 | g.127426257C>A | CA2660996890 | PROC | c.678+30C>A (n.678+30C>A) c.121-2100C>A c.780+30C>A (n.780+30C>A) n.294C>A c.861+30C>A (n.861+30C>A) c.843+30C>A (n.843+30C>A) c.741+30C>A (n.741+30C>A) n.1617G>T c.921+30C>A (n.921+30C>A) c.1023+30C>A (n.1023+30C>A) c.963+30C>A (n.963+30C>A) n.4328G>T c.846+30C>A (n.846+30C>A) c.864+30C>A (n.864+30C>A) c.621+30C>A (n.621+30C>A) c.654+30C>A (n.654+30C>A) c.672+30C>A (n.672+30C>A) | gnomAD v4 |
2 | g.127426257C= | CA1286883478 | PROC | c.678+30C= (n.678+30C=) c.121-2100C= c.780+30C= (n.780+30C=) n.294C= c.861+30C= (n.861+30C=) c.843+30C= (n.843+30C=) c.741+30C= (n.741+30C=) n.1617G= c.921+30C= (n.921+30C=) c.1023+30C= (n.1023+30C=) c.963+30C= (n.963+30C=) n.4328G= c.846+30C= (n.846+30C=) c.864+30C= (n.864+30C=) c.621+30C= (n.621+30C=) c.654+30C= (n.654+30C=) c.672+30C= (n.672+30C=) | |
2 | g.127426257C>G | CA1286883479 | PROC | c.678+30C>G (n.678+30C>G) c.121-2100C>G c.780+30C>G (n.780+30C>G) n.294C>G c.861+30C>G (n.861+30C>G) c.843+30C>G (n.843+30C>G) c.741+30C>G (n.741+30C>G) n.1617G>C c.921+30C>G (n.921+30C>G) c.1023+30C>G (n.1023+30C>G) c.963+30C>G (n.963+30C>G) n.4328G>C c.846+30C>G (n.846+30C>G) c.864+30C>G (n.864+30C>G) c.621+30C>G (n.621+30C>G) c.654+30C>G (n.654+30C>G) c.672+30C>G (n.672+30C>G) | dbSNP |
2 | g.127426257C>T | CA1859413 | PROC | c.678+30C>T (n.678+30C>T) c.121-2100C>T c.780+30C>T (n.780+30C>T) n.294C>T c.861+30C>T (n.861+30C>T) c.843+30C>T (n.843+30C>T) c.741+30C>T (n.741+30C>T) n.1617G>A c.921+30C>T (n.921+30C>T) c.1023+30C>T (n.1023+30C>T) c.963+30C>T (n.963+30C>T) n.4328G>A c.846+30C>T (n.846+30C>T) c.864+30C>T (n.864+30C>T) c.621+30C>T (n.621+30C>T) c.654+30C>T (n.654+30C>T) c.672+30C>T (n.672+30C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.127426258G>A | CA1859414 | PROC | c.678+31G>A (n.678+31G>A) c.121-2099G>A c.780+31G>A (n.780+31G>A) n.295G>A c.861+31G>A (n.861+31G>A) c.843+31G>A (n.843+31G>A) c.741+31G>A (n.741+31G>A) n.1616C>T c.921+31G>A (n.921+31G>A) c.1023+31G>A (n.1023+31G>A) c.963+31G>A (n.963+31G>A) n.4327C>T c.846+31G>A (n.846+31G>A) c.864+31G>A (n.864+31G>A) c.621+31G>A (n.621+31G>A) c.654+31G>A (n.654+31G>A) c.672+31G>A (n.672+31G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127426258G= | CA1286883480 | PROC | c.678+31G= (n.678+31G=) c.121-2099G= c.780+31G= (n.780+31G=) n.295G= c.861+31G= (n.861+31G=) c.843+31G= (n.843+31G=) c.741+31G= (n.741+31G=) n.1616C= c.921+31G= (n.921+31G=) c.1023+31G= (n.1023+31G=) c.963+31G= (n.963+31G=) n.4327C= c.846+31G= (n.846+31G=) c.864+31G= (n.864+31G=) c.621+31G= (n.621+31G=) c.654+31G= (n.654+31G=) c.672+31G= (n.672+31G=) | |
2 | g.127426259T>C | CA2752102945 | PROC | c.678+32T>C (n.678+32T>C) c.121-2098T>C c.780+32T>C (n.780+32T>C) n.296T>C c.861+32T>C (n.861+32T>C) c.843+32T>C (n.843+32T>C) c.741+32T>C (n.741+32T>C) n.1615A>G c.921+32T>C (n.921+32T>C) c.1023+32T>C (n.1023+32T>C) c.963+32T>C (n.963+32T>C) n.4326A>G c.846+32T>C (n.846+32T>C) c.864+32T>C (n.864+32T>C) c.621+32T>C (n.621+32T>C) c.654+32T>C (n.654+32T>C) c.672+32T>C (n.672+32T>C) | |
2 | g.127426264G>A | CA2660996892 | PROC | c.678+37G>A (n.678+37G>A) c.121-2093G>A c.780+37G>A (n.780+37G>A) n.301G>A c.861+37G>A (n.861+37G>A) c.843+37G>A (n.843+37G>A) c.741+37G>A (n.741+37G>A) n.1610C>T c.921+37G>A (n.921+37G>A) c.1023+37G>A (n.1023+37G>A) c.963+37G>A (n.963+37G>A) n.4321C>T c.846+37G>A (n.846+37G>A) c.864+37G>A (n.864+37G>A) c.621+37G>A (n.621+37G>A) c.654+37G>A (n.654+37G>A) c.672+37G>A (n.672+37G>A) | gnomAD v4 |
2 | g.127426264G>T | CA2660996891 | PROC | c.678+37G>T (n.678+37G>T) c.121-2093G>T c.780+37G>T (n.780+37G>T) n.301G>T c.861+37G>T (n.861+37G>T) c.843+37G>T (n.843+37G>T) c.741+37G>T (n.741+37G>T) n.1610C>A c.921+37G>T (n.921+37G>T) c.1023+37G>T (n.1023+37G>T) c.963+37G>T (n.963+37G>T) n.4321C>A c.846+37G>T (n.846+37G>T) c.864+37G>T (n.864+37G>T) c.621+37G>T (n.621+37G>T) c.654+37G>T (n.654+37G>T) c.672+37G>T (n.672+37G>T) | gnomAD v4 |
2 | g.127426265G>A | CA1859415 | PROC | c.678+38G>A (n.678+38G>A) c.121-2092G>A c.780+38G>A (n.780+38G>A) n.302G>A c.861+38G>A (n.861+38G>A) c.843+38G>A (n.843+38G>A) c.741+38G>A (n.741+38G>A) n.1609C>T c.921+38G>A (n.921+38G>A) c.1023+38G>A (n.1023+38G>A) c.963+38G>A (n.963+38G>A) n.4320C>T c.846+38G>A (n.846+38G>A) c.864+38G>A (n.864+38G>A) c.621+38G>A (n.621+38G>A) c.654+38G>A (n.654+38G>A) c.672+38G>A (n.672+38G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127426265G>C | CA2660996893 | PROC | c.678+38G>C (n.678+38G>C) c.121-2092G>C c.780+38G>C (n.780+38G>C) n.302G>C c.861+38G>C (n.861+38G>C) c.843+38G>C (n.843+38G>C) c.741+38G>C (n.741+38G>C) n.1609C>G c.921+38G>C (n.921+38G>C) c.1023+38G>C (n.1023+38G>C) c.963+38G>C (n.963+38G>C) n.4320C>G c.846+38G>C (n.846+38G>C) c.864+38G>C (n.864+38G>C) c.621+38G>C (n.621+38G>C) c.654+38G>C (n.654+38G>C) c.672+38G>C (n.672+38G>C) | gnomAD v4 |
2 | g.127426265G= | CA1286883481 | PROC | c.678+38G= (n.678+38G=) c.121-2092G= c.780+38G= (n.780+38G=) n.302G= c.861+38G= (n.861+38G=) c.843+38G= (n.843+38G=) c.741+38G= (n.741+38G=) n.1609C= c.921+38G= (n.921+38G=) c.1023+38G= (n.1023+38G=) c.963+38G= (n.963+38G=) n.4320C= c.846+38G= (n.846+38G=) c.864+38G= (n.864+38G=) c.621+38G= (n.621+38G=) c.654+38G= (n.654+38G=) c.672+38G= (n.672+38G=) | |
2 | g.127426268C>A | CA1859417 | PROC | c.678+41C>A (n.678+41C>A) c.121-2089C>A c.780+41C>A (n.780+41C>A) n.305C>A c.861+41C>A (n.861+41C>A) c.843+41C>A (n.843+41C>A) c.741+41C>A (n.741+41C>A) n.1606G>T c.921+41C>A (n.921+41C>A) c.1023+41C>A (n.1023+41C>A) c.963+41C>A (n.963+41C>A) n.4317G>T c.846+41C>A (n.846+41C>A) c.864+41C>A (n.864+41C>A) c.621+41C>A (n.621+41C>A) c.654+41C>A (n.654+41C>A) c.672+41C>A (n.672+41C>A) | dbSNP ExAC |
2 | g.127426268C= | CA1286883482 | PROC | c.678+41C= (n.678+41C=) c.121-2089C= c.780+41C= (n.780+41C=) n.305C= c.861+41C= (n.861+41C=) c.843+41C= (n.843+41C=) c.741+41C= (n.741+41C=) n.1606G= c.921+41C= (n.921+41C=) c.1023+41C= (n.1023+41C=) c.963+41C= (n.963+41C=) n.4317G= c.846+41C= (n.846+41C=) c.864+41C= (n.864+41C=) c.621+41C= (n.621+41C=) c.654+41C= (n.654+41C=) c.672+41C= (n.672+41C=) | |
2 | g.127426268C>T | CA1859416 | PROC | c.678+41C>T (n.678+41C>T) c.121-2089C>T c.780+41C>T (n.780+41C>T) n.305C>T c.861+41C>T (n.861+41C>T) c.843+41C>T (n.843+41C>T) c.741+41C>T (n.741+41C>T) n.1606G>A c.921+41C>T (n.921+41C>T) c.1023+41C>T (n.1023+41C>T) c.963+41C>T (n.963+41C>T) n.4317G>A c.846+41C>T (n.846+41C>T) c.864+41C>T (n.864+41C>T) c.621+41C>T (n.621+41C>T) c.654+41C>T (n.654+41C>T) c.672+41C>T (n.672+41C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.127426269G>A | CA535639837 | PROC | c.678+42G>A (n.678+42G>A) c.121-2088G>A c.780+42G>A (n.780+42G>A) n.306G>A c.861+42G>A (n.861+42G>A) c.843+42G>A (n.843+42G>A) c.741+42G>A (n.741+42G>A) n.1605C>T c.921+42G>A (n.921+42G>A) c.1023+42G>A (n.1023+42G>A) c.963+42G>A (n.963+42G>A) n.4316C>T c.846+42G>A (n.846+42G>A) c.864+42G>A (n.864+42G>A) c.621+42G>A (n.621+42G>A) c.654+42G>A (n.654+42G>A) c.672+42G>A (n.672+42G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127426269G= | CA1286883483 | PROC | c.678+42G= (n.678+42G=) c.121-2088G= c.780+42G= (n.780+42G=) n.306G= c.861+42G= (n.861+42G=) c.843+42G= (n.843+42G=) c.741+42G= (n.741+42G=) n.1605C= c.921+42G= (n.921+42G=) c.1023+42G= (n.1023+42G=) c.963+42G= (n.963+42G=) n.4316C= c.846+42G= (n.846+42G=) c.864+42G= (n.864+42G=) c.621+42G= (n.621+42G=) c.654+42G= (n.654+42G=) c.672+42G= (n.672+42G=) | |
2 | g.127426270G>C | CA1036159643 | PROC | c.678+43G>C (n.678+43G>C) c.121-2087G>C c.780+43G>C (n.780+43G>C) n.307G>C c.861+43G>C (n.861+43G>C) c.843+43G>C (n.843+43G>C) c.741+43G>C (n.741+43G>C) n.1604C>G c.921+43G>C (n.921+43G>C) c.1023+43G>C (n.1023+43G>C) c.963+43G>C (n.963+43G>C) n.4315C>G c.846+43G>C (n.846+43G>C) c.864+43G>C (n.864+43G>C) c.621+43G>C (n.621+43G>C) c.654+43G>C (n.654+43G>C) c.672+43G>C (n.672+43G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127426270G= | CA1286883484 | PROC | c.678+43G= (n.678+43G=) c.121-2087G= c.780+43G= (n.780+43G=) n.307G= c.861+43G= (n.861+43G=) c.843+43G= (n.843+43G=) c.741+43G= (n.741+43G=) n.1604C= c.921+43G= (n.921+43G=) c.1023+43G= (n.1023+43G=) c.963+43G= (n.963+43G=) n.4315C= c.846+43G= (n.846+43G=) c.864+43G= (n.864+43G=) c.621+43G= (n.621+43G=) c.654+43G= (n.654+43G=) c.672+43G= (n.672+43G=) | |
2 | g.127426273T>A | CA1286883486 | PROC | c.678+46T>A (n.678+46T>A) c.121-2084T>A c.780+46T>A (n.780+46T>A) n.310T>A c.861+46T>A (n.861+46T>A) c.843+46T>A (n.843+46T>A) c.741+46T>A (n.741+46T>A) n.1601A>T c.921+46T>A (n.921+46T>A) c.1023+46T>A (n.1023+46T>A) c.963+46T>A (n.963+46T>A) n.4312A>T c.846+46T>A (n.846+46T>A) c.864+46T>A (n.864+46T>A) c.621+46T>A (n.621+46T>A) c.654+46T>A (n.654+46T>A) c.672+46T>A (n.672+46T>A) | dbSNP |
2 | g.127426273T= | CA1286883485 | PROC | c.678+46T= (n.678+46T=) c.121-2084T= c.780+46T= (n.780+46T=) n.310T= c.861+46T= (n.861+46T=) c.843+46T= (n.843+46T=) c.741+46T= (n.741+46T=) n.1601A= c.921+46T= (n.921+46T=) c.1023+46T= (n.1023+46T=) c.963+46T= (n.963+46T=) n.4312A= c.846+46T= (n.846+46T=) c.864+46T= (n.864+46T=) c.621+46T= (n.621+46T=) c.654+46T= (n.654+46T=) c.672+46T= (n.672+46T=) | |
2 | g.127426274C>A | CA2660996894 | PROC | c.678+47C>A (n.678+47C>A) c.121-2083C>A c.780+47C>A (n.780+47C>A) n.311C>A c.861+47C>A (n.861+47C>A) c.843+47C>A (n.843+47C>A) c.741+47C>A (n.741+47C>A) n.1600G>T c.921+47C>A (n.921+47C>A) c.1023+47C>A (n.1023+47C>A) c.963+47C>A (n.963+47C>A) n.4311G>T c.846+47C>A (n.846+47C>A) c.864+47C>A (n.864+47C>A) c.621+47C>A (n.621+47C>A) c.654+47C>A (n.654+47C>A) c.672+47C>A (n.672+47C>A) | gnomAD v4 |
2 | g.127426275A>C | CA2660996895 | PROC | c.678+48A>C (n.678+48A>C) c.121-2082A>C c.780+48A>C (n.780+48A>C) n.312A>C c.861+48A>C (n.861+48A>C) c.843+48A>C (n.843+48A>C) c.741+48A>C (n.741+48A>C) n.1599T>G c.921+48A>C (n.921+48A>C) c.1023+48A>C (n.1023+48A>C) c.963+48A>C (n.963+48A>C) n.4310T>G c.846+48A>C (n.846+48A>C) c.864+48A>C (n.864+48A>C) c.621+48A>C (n.621+48A>C) c.654+48A>C (n.654+48A>C) c.672+48A>C (n.672+48A>C) | gnomAD v4 |
2 | g.127426280G>A | CA2660996896 | PROC | c.678+53G>A (n.678+53G>A) c.121-2077G>A c.780+53G>A (n.780+53G>A) n.317G>A c.861+53G>A (n.861+53G>A) c.843+53G>A (n.843+53G>A) c.741+53G>A (n.741+53G>A) n.1594C>T c.921+53G>A (n.921+53G>A) c.1023+53G>A (n.1023+53G>A) c.963+53G>A (n.963+53G>A) n.4305C>T c.846+53G>A (n.846+53G>A) c.864+53G>A (n.864+53G>A) c.621+53G>A (n.621+53G>A) c.654+53G>A (n.654+53G>A) c.672+53G>A (n.672+53G>A) | gnomAD v4 |
2 | g.127426280G>C | CA55348627 | PROC | c.678+53G>C (n.678+53G>C) c.121-2077G>C c.780+53G>C (n.780+53G>C) n.317G>C c.861+53G>C (n.861+53G>C) c.843+53G>C (n.843+53G>C) c.741+53G>C (n.741+53G>C) n.1594C>G c.921+53G>C (n.921+53G>C) c.1023+53G>C (n.1023+53G>C) c.963+53G>C (n.963+53G>C) n.4305C>G c.846+53G>C (n.846+53G>C) c.864+53G>C (n.864+53G>C) c.621+53G>C (n.621+53G>C) c.654+53G>C (n.654+53G>C) c.672+53G>C (n.672+53G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127426280G= | CA1286883487 | PROC | c.678+53G= (n.678+53G=) c.121-2077G= c.780+53G= (n.780+53G=) n.317G= c.861+53G= (n.861+53G=) c.843+53G= (n.843+53G=) c.741+53G= (n.741+53G=) n.1594C= c.921+53G= (n.921+53G=) c.1023+53G= (n.1023+53G=) c.963+53G= (n.963+53G=) n.4305C= c.846+53G= (n.846+53G=) c.864+53G= (n.864+53G=) c.621+53G= (n.621+53G=) c.654+53G= (n.654+53G=) c.672+53G= (n.672+53G=) | |
2 | g.127426280_127426284delinsGTCCA | CA1286883488 | PROC | c.678+53_678+57delinsGTCCA (n.678+53_678+57delinsGTCCA) c.121-2077_121-2073delinsGTCCA c.780+53_780+57delinsGTCCA (n.780+53_780+57delinsGTCCA) n.317_321delinsGTCCA c.861+53_861+57delinsGTCCA (n.861+53_861+57delinsGTCCA) c.843+53_843+57delinsGTCCA (n.843+53_843+57delinsGTCCA) c.741+53_741+57delinsGTCCA (n.741+53_741+57delinsGTCCA) n.1590_1594delinsTGGAC c.921+53_921+57delinsGTCCA (n.921+53_921+57delinsGTCCA) c.1023+53_1023+57delinsGTCCA (n.1023+53_1023+57delinsGTCCA) c.963+53_963+57delinsGTCCA (n.963+53_963+57delinsGTCCA) n.4301_4305delinsTGGAC c.846+53_846+57delinsGTCCA (n.846+53_846+57delinsGTCCA) c.864+53_864+57delinsGTCCA (n.864+53_864+57delinsGTCCA) c.621+53_621+57delinsGTCCA (n.621+53_621+57delinsGTCCA) c.654+53_654+57delinsGTCCA (n.654+53_654+57delinsGTCCA) c.672+53_672+57delinsGTCCA (n.672+53_672+57delinsGTCCA) | |
2 | g.127426281T>A | CA2660996897 | PROC | c.678+54T>A (n.678+54T>A) c.121-2076T>A c.780+54T>A (n.780+54T>A) n.318T>A c.861+54T>A (n.861+54T>A) c.843+54T>A (n.843+54T>A) c.741+54T>A (n.741+54T>A) n.1593A>T c.921+54T>A (n.921+54T>A) c.1023+54T>A (n.1023+54T>A) c.963+54T>A (n.963+54T>A) n.4304A>T c.846+54T>A (n.846+54T>A) c.864+54T>A (n.864+54T>A) c.621+54T>A (n.621+54T>A) c.654+54T>A (n.654+54T>A) c.672+54T>A (n.672+54T>A) | gnomAD v4 |
2 | g.127426284_127426287del | CA535639839 | PROC | c.678+57_678+60del (n.678+57_678+60del) c.121-2073_121-2070del c.780+57_780+60del (n.780+57_780+60del) n.321_324del c.861+57_861+60del (n.861+57_861+60del) c.843+57_843+60del (n.843+57_843+60del) c.741+57_741+60del (n.741+57_741+60del) n.1590_1593del c.921+57_921+60del (n.921+57_921+60del) c.1023+57_1023+60del (n.1023+57_1023+60del) c.963+57_963+60del (n.963+57_963+60del) n.4301_4304del c.846+57_846+60del (n.846+57_846+60del) c.864+57_864+60del (n.864+57_864+60del) c.621+57_621+60del (n.621+57_621+60del) c.654+57_654+60del (n.654+57_654+60del) c.672+57_672+60del (n.672+57_672+60del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127426282C>A | CA2577090378 | PROC | c.678+55C>A (n.678+55C>A) c.121-2075C>A c.780+55C>A (n.780+55C>A) n.319C>A c.861+55C>A (n.861+55C>A) c.843+55C>A (n.843+55C>A) c.741+55C>A (n.741+55C>A) n.1592G>T c.921+55C>A (n.921+55C>A) c.1023+55C>A (n.1023+55C>A) c.963+55C>A (n.963+55C>A) n.4303G>T c.846+55C>A (n.846+55C>A) c.864+55C>A (n.864+55C>A) c.621+55C>A (n.621+55C>A) c.654+55C>A (n.654+55C>A) c.672+55C>A (n.672+55C>A) | gnomAD v4 |
2 | g.127426283C= | CA1286883489 | PROC | c.678+56C= (n.678+56C=) c.121-2074C= c.780+56C= (n.780+56C=) n.320C= c.861+56C= (n.861+56C=) c.843+56C= (n.843+56C=) c.741+56C= (n.741+56C=) n.1591G= c.921+56C= (n.921+56C=) c.1023+56C= (n.1023+56C=) c.963+56C= (n.963+56C=) n.4302G= c.846+56C= (n.846+56C=) c.864+56C= (n.864+56C=) c.621+56C= (n.621+56C=) c.654+56C= (n.654+56C=) c.672+56C= (n.672+56C=) | |
2 | g.127426283C>T | CA55348632 | PROC | c.678+56C>T (n.678+56C>T) c.121-2074C>T c.780+56C>T (n.780+56C>T) n.320C>T c.861+56C>T (n.861+56C>T) c.843+56C>T (n.843+56C>T) c.741+56C>T (n.741+56C>T) n.1591G>A c.921+56C>T (n.921+56C>T) c.1023+56C>T (n.1023+56C>T) c.963+56C>T (n.963+56C>T) n.4302G>A c.846+56C>T (n.846+56C>T) c.864+56C>T (n.864+56C>T) c.621+56C>T (n.621+56C>T) c.654+56C>T (n.654+56C>T) c.672+56C>T (n.672+56C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127426284A= | CA1286883490 | PROC | c.678+57A= (n.678+57A=) c.121-2073A= c.780+57A= (n.780+57A=) n.321A= c.861+57A= (n.861+57A=) c.843+57A= (n.843+57A=) c.741+57A= (n.741+57A=) n.1590T= c.921+57A= (n.921+57A=) c.1023+57A= (n.1023+57A=) c.963+57A= (n.963+57A=) n.4301T= c.846+57A= (n.846+57A=) c.864+57A= (n.864+57A=) c.621+57A= (n.621+57A=) c.654+57A= (n.654+57A=) c.672+57A= (n.672+57A=) | |
2 | g.127426284A>C | CA55348639 | PROC | c.678+57A>C (n.678+57A>C) c.121-2073A>C c.780+57A>C (n.780+57A>C) n.321A>C c.861+57A>C (n.861+57A>C) c.843+57A>C (n.843+57A>C) c.741+57A>C (n.741+57A>C) n.1590T>G c.921+57A>C (n.921+57A>C) c.1023+57A>C (n.1023+57A>C) c.963+57A>C (n.963+57A>C) n.4301T>G c.846+57A>C (n.846+57A>C) c.864+57A>C (n.864+57A>C) c.621+57A>C (n.621+57A>C) c.654+57A>C (n.654+57A>C) c.672+57A>C (n.672+57A>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127426284A>T | CA1036159647 | PROC | c.678+57A>T (n.678+57A>T) c.121-2073A>T c.780+57A>T (n.780+57A>T) n.321A>T c.861+57A>T (n.861+57A>T) c.843+57A>T (n.843+57A>T) c.741+57A>T (n.741+57A>T) n.1590T>A c.921+57A>T (n.921+57A>T) c.1023+57A>T (n.1023+57A>T) c.963+57A>T (n.963+57A>T) n.4301T>A c.846+57A>T (n.846+57A>T) c.864+57A>T (n.864+57A>T) c.621+57A>T (n.621+57A>T) c.654+57A>T (n.654+57A>T) c.672+57A>T (n.672+57A>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127426289G>C | CA2660996898 | PROC | c.678+62G>C (n.678+62G>C) c.121-2068G>C c.780+62G>C (n.780+62G>C) n.326G>C c.861+62G>C (n.861+62G>C) c.843+62G>C (n.843+62G>C) c.741+62G>C (n.741+62G>C) n.1585C>G c.921+62G>C (n.921+62G>C) c.1023+62G>C (n.1023+62G>C) c.963+62G>C (n.963+62G>C) n.4296C>G c.846+62G>C (n.846+62G>C) c.864+62G>C (n.864+62G>C) c.621+62G>C (n.621+62G>C) c.654+62G>C (n.654+62G>C) c.672+62G>C (n.672+62G>C) | gnomAD v4 |