Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.125491736C>A | CA358144240 | FAT4 | c.14920C>A (p.Pro4974Thr) c.9691C>A (p.Pro3231Thr) c.9637C>A (p.Pro3213Thr) c.14914C>A (p.Pro4972Thr) c.14917C>A (p.Pro4973Thr) | |
4 | g.125491736C= | CA1491680602 | FAT4 | c.14920C= (p.Pro4974=) c.9691C= (p.Pro3231=) c.9637C= (p.Pro3213=) c.14914C= (p.Pro4972=) c.14917C= (p.Pro4973=) | |
4 | g.125491736C>G | CA358144242 | FAT4 | c.14920C>G (p.Pro4974Ala) c.9691C>G (p.Pro3231Ala) c.9637C>G (p.Pro3213Ala) c.14914C>G (p.Pro4972Ala) c.14917C>G (p.Pro4973Ala) | |
4 | g.125491736C>T | CA3074644 | FAT4 | c.14920C>T (p.Pro4974Ser) c.9691C>T (p.Pro3231Ser) c.9637C>T (p.Pro3213Ser) c.14914C>T (p.Pro4972Ser) c.14917C>T (p.Pro4973Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125491737C>A | CA358144246 | FAT4 | c.14921C>A (p.Pro4974His) c.9692C>A (p.Pro3231His) c.9638C>A (p.Pro3213His) c.14915C>A (p.Pro4972His) c.14918C>A (p.Pro4973His) | |
4 | g.125491737C>G | CA358144249 | FAT4 | c.14921C>G (p.Pro4974Arg) c.9692C>G (p.Pro3231Arg) c.9638C>G (p.Pro3213Arg) c.14915C>G (p.Pro4972Arg) c.14918C>G (p.Pro4973Arg) | |
4 | g.125491737C>T | CA358144252 | FAT4 | c.14921C>T (p.Pro4974Leu) c.9692C>T (p.Pro3231Leu) c.9638C>T (p.Pro3213Leu) c.14915C>T (p.Pro4972Leu) c.14918C>T (p.Pro4973Leu) | |
4 | g.125491738C>A | CA441374007 | FAT4 | c.14922C>A (p.Pro4974=) c.9693C>A (p.Pro3231=) c.9639C>A (p.Pro3213=) c.14916C>A (p.Pro4972=) c.14919C>A (p.Pro4973=) | |
4 | g.125491738C>G | CA441374010 | FAT4 | c.14922C>G (p.Pro4974=) c.9693C>G (p.Pro3231=) c.9639C>G (p.Pro3213=) c.14916C>G (p.Pro4972=) c.14919C>G (p.Pro4973=) | |
4 | g.125491738C>T | CA441374012 | FAT4 | c.14922C>T (p.Pro4974=) c.9693C>T (p.Pro3231=) c.9639C>T (p.Pro3213=) c.14916C>T (p.Pro4972=) c.14919C>T (p.Pro4973=) | |
4 | g.125491739A>C | CA358144258 | FAT4 | c.14923A>C (p.Lys4975Gln) c.9694A>C (p.Lys3232Gln) c.9640A>C (p.Lys3214Gln) c.14917A>C (p.Lys4973Gln) c.14920A>C (p.Lys4974Gln) | |
4 | g.125491739A>G | CA358144263 | FAT4 | c.14923A>G (p.Lys4975Glu) c.9694A>G (p.Lys3232Glu) c.9640A>G (p.Lys3214Glu) c.14917A>G (p.Lys4973Glu) c.14920A>G (p.Lys4974Glu) | |
4 | g.125491739A>T | CA358144255 | FAT4 | c.14923A>T (p.Lys4975Ter) c.9694A>T (p.Lys3232Ter) c.9640A>T (p.Lys3214Ter) c.14917A>T (p.Lys4973Ter) c.14920A>T (p.Lys4974Ter) | |
4 | g.125491740A= | CA1491680610 | FAT4 | c.14924A= (p.Lys4975=) c.9695A= (p.Lys3232=) c.9641A= (p.Lys3214=) c.14918A= (p.Lys4973=) c.14921A= (p.Lys4974=) | |
4 | g.125491740A>C | CA358144266 | FAT4 | c.14924A>C (p.Lys4975Thr) c.9695A>C (p.Lys3232Thr) c.9641A>C (p.Lys3214Thr) c.14918A>C (p.Lys4973Thr) c.14921A>C (p.Lys4974Thr) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.125491740A>G | CA358144268 | FAT4 | c.14924A>G (p.Lys4975Arg) c.9695A>G (p.Lys3232Arg) c.9641A>G (p.Lys3214Arg) c.14918A>G (p.Lys4973Arg) c.14921A>G (p.Lys4974Arg) | gnomAD v4 |
4 | g.125491740A>T | CA358144269 | FAT4 | c.14924A>T (p.Lys4975Ile) c.9695A>T (p.Lys3232Ile) c.9641A>T (p.Lys3214Ile) c.14918A>T (p.Lys4973Ile) c.14921A>T (p.Lys4974Ile) | |
4 | g.125491741A>C | CA358144272 | FAT4 | c.14925A>C (p.Lys4975Asn) c.9696A>C (p.Lys3232Asn) c.9642A>C (p.Lys3214Asn) c.14919A>C (p.Lys4973Asn) c.14922A>C (p.Lys4974Asn) | |
4 | g.125491741A>G | CA441374020 | FAT4 | c.14925A>G (p.Lys4975=) c.9696A>G (p.Lys3232=) c.9642A>G (p.Lys3214=) c.14919A>G (p.Lys4973=) c.14922A>G (p.Lys4974=) | |
4 | g.125491741A>T | CA358144275 | FAT4 | c.14925A>T (p.Lys4975Asn) c.9696A>T (p.Lys3232Asn) c.9642A>T (p.Lys3214Asn) c.14919A>T (p.Lys4973Asn) c.14922A>T (p.Lys4974Asn) | |
4 | g.125491742del | CA2578191326 | FAT4 | c.14926del (p.Asp4976MetfsTer16) c.9697del (p.Asp3233MetfsTer16) c.9643del (p.Asp3215MetfsTer?) c.14920del (p.Asp4974MetfsTer16) c.14923del (p.Asp4975MetfsTer16) | |
4 | g.125491742G>A | CA358144284 | FAT4 | c.14926G>A (p.Asp4976Asn) c.9697G>A (p.Asp3233Asn) c.9643G>A (p.Asp3215Asn) c.14920G>A (p.Asp4974Asn) c.14923G>A (p.Asp4975Asn) | dbSNP gnomAD v4 |
4 | g.125491742G>C | CA358144279 | FAT4 | c.14926G>C (p.Asp4976His) c.9697G>C (p.Asp3233His) c.9643G>C (p.Asp3215His) c.14920G>C (p.Asp4974His) c.14923G>C (p.Asp4975His) | |
4 | g.125491742G= | CA1491680612 | FAT4 | c.14926G= (p.Asp4976=) c.9697G= (p.Asp3233=) c.9643G= (p.Asp3215=) c.14920G= (p.Asp4974=) c.14923G= (p.Asp4975=) | |
4 | g.125491742G>T | CA358144282 | FAT4 | c.14926G>T (p.Asp4976Tyr) c.9697G>T (p.Asp3233Tyr) c.9643G>T (p.Asp3215Tyr) c.14920G>T (p.Asp4974Tyr) c.14923G>T (p.Asp4975Tyr) | |
4 | g.125491743A= | CA1491680614 | FAT4 | c.14927A= (p.Asp4976=) c.9698A= (p.Asp3233=) c.9644A= (p.Asp3215=) c.14921A= (p.Asp4974=) c.14924A= (p.Asp4975=) | |
4 | g.125491743A>C | CA358144286 | FAT4 | c.14927A>C (p.Asp4976Ala) c.9698A>C (p.Asp3233Ala) c.9644A>C (p.Asp3215Ala) c.14921A>C (p.Asp4974Ala) c.14924A>C (p.Asp4975Ala) | |
4 | g.125491743A>G | CA358144293 | FAT4 | c.14927A>G (p.Asp4976Gly) c.9698A>G (p.Asp3233Gly) c.9644A>G (p.Asp3215Gly) c.14921A>G (p.Asp4974Gly) c.14924A>G (p.Asp4975Gly) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.125491743A>T | CA358144294 | FAT4 | c.14927A>T (p.Asp4976Val) c.9698A>T (p.Asp3233Val) c.9644A>T (p.Asp3215Val) c.14921A>T (p.Asp4974Val) c.14924A>T (p.Asp4975Val) | |
4 | g.125491744T>A | CA358144297 | FAT4 | c.14928T>A (p.Asp4976Glu) c.9699T>A (p.Asp3233Glu) c.9645T>A (p.Asp3215Glu) c.14922T>A (p.Asp4974Glu) c.14925T>A (p.Asp4975Glu) | |
4 | g.125491744T>C | CA441374029 | FAT4 | c.14928T>C (p.Asp4976=) c.9699T>C (p.Asp3233=) c.9645T>C (p.Asp3215=) c.14922T>C (p.Asp4974=) c.14925T>C (p.Asp4975=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.125491744T>G | CA358144299 | FAT4 | c.14928T>G (p.Asp4976Glu) c.9699T>G (p.Asp3233Glu) c.9645T>G (p.Asp3215Glu) c.14922T>G (p.Asp4974Glu) c.14925T>G (p.Asp4975Glu) | |
4 | g.125491744T= | CA1491680618 | FAT4 | c.14928T= (p.Asp4976=) c.9699T= (p.Asp3233=) c.9645T= (p.Asp3215=) c.14922T= (p.Asp4974=) c.14925T= (p.Asp4975=) | |
4 | g.125491745G>A | CA358144304 | FAT4 | c.14929G>A (p.Gly4977Arg) c.9700G>A (p.Gly3234Arg) c.9646G>A (p.Gly3216Arg) c.14923G>A (p.Gly4975Arg) c.14926G>A (p.Gly4976Arg) | |
4 | g.125491745G>C | CA358144303 | FAT4 | c.14929G>C (p.Gly4977Arg) c.9700G>C (p.Gly3234Arg) c.9646G>C (p.Gly3216Arg) c.14923G>C (p.Gly4975Arg) c.14926G>C (p.Gly4976Arg) | |
4 | g.125491745G>T | CA358144302 | FAT4 | c.14929G>T (p.Gly4977Trp) c.9700G>T (p.Gly3234Trp) c.9646G>T (p.Gly3216Trp) c.14923G>T (p.Gly4975Trp) c.14926G>T (p.Gly4976Trp) | |
4 | g.125491746G>A | CA358144308 | FAT4 | c.14930G>A (p.Gly4977Glu) c.9701G>A (p.Gly3234Glu) c.9647G>A (p.Gly3216Glu) c.14924G>A (p.Gly4975Glu) c.14927G>A (p.Gly4976Glu) | gnomAD v4 |
4 | g.125491746G>C | CA358144311 | FAT4 | c.14930G>C (p.Gly4977Ala) c.9701G>C (p.Gly3234Ala) c.9647G>C (p.Gly3216Ala) c.14924G>C (p.Gly4975Ala) c.14927G>C (p.Gly4976Ala) | |
4 | g.125491746G>T | CA358144314 | FAT4 | c.14930G>T (p.Gly4977Val) c.9701G>T (p.Gly3234Val) c.9647G>T (p.Gly3216Val) c.14924G>T (p.Gly4975Val) c.14927G>T (p.Gly4976Val) | |
4 | g.125491747G>A | CA3074645 | FAT4 | c.14931G>A (p.Gly4977=) c.9702G>A (p.Gly3234=) c.9648G>A (p.Gly3216=) c.14925G>A (p.Gly4975=) c.14928G>A (p.Gly4976=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125491747G>C | CA441374039 | FAT4 | c.14931G>C (p.Gly4977=) c.9702G>C (p.Gly3234=) c.9648G>C (p.Gly3216=) c.14925G>C (p.Gly4975=) c.14928G>C (p.Gly4976=) | |
4 | g.125491747G= | CA1491680622 | FAT4 | c.14931G= (p.Gly4977=) c.9702G= (p.Gly3234=) c.9648G= (p.Gly3216=) c.14925G= (p.Gly4975=) c.14928G= (p.Gly4976=) | |
4 | g.125491747G>T | CA441374041 | FAT4 | c.14931G>T (p.Gly4977=) c.9702G>T (p.Gly3234=) c.9648G>T (p.Gly3216=) c.14925G>T (p.Gly4975=) c.14928G>T (p.Gly4976=) | |
4 | g.125491748G>A | CA358144321 | FAT4 | c.14932G>A (p.Glu4978Lys) c.9703G>A (p.Glu3235Lys) c.9649G>A (p.Glu3217Lys) c.14926G>A (p.Glu4976Lys) c.14929G>A (p.Glu4977Lys) | gnomAD v4 |
4 | g.125491748G>C | CA358144324 | FAT4 | c.14932G>C (p.Glu4978Gln) c.9703G>C (p.Glu3235Gln) c.9649G>C (p.Glu3217Gln) c.14926G>C (p.Glu4976Gln) c.14929G>C (p.Glu4977Gln) | |
4 | g.125491748G>T | CA358144330 | FAT4 | c.14932G>T (p.Glu4978Ter) c.9703G>T (p.Glu3235Ter) c.9649G>T (p.Glu3217Ter) c.14926G>T (p.Glu4976Ter) c.14929G>T (p.Glu4977Ter) | COSMIC COSMIC COSMIC |
4 | g.125491749A>C | CA358144336 | FAT4 | c.14933A>C (p.Glu4978Ala) c.9704A>C (p.Glu3235Ala) c.9650A>C (p.Glu3217Ala) c.14927A>C (p.Glu4976Ala) c.14930A>C (p.Glu4977Ala) | |
4 | g.125491749A>G | CA358144332 | FAT4 | c.14933A>G (p.Glu4978Gly) c.9704A>G (p.Glu3235Gly) c.9650A>G (p.Glu3217Gly) c.14927A>G (p.Glu4976Gly) c.14930A>G (p.Glu4977Gly) | |
4 | g.125491749A>T | CA358144334 | FAT4 | c.14933A>T (p.Glu4978Val) c.9704A>T (p.Glu3235Val) c.9650A>T (p.Glu3217Val) c.14927A>T (p.Glu4976Val) c.14930A>T (p.Glu4977Val) | |
4 | g.125491750A>C | CA358144339 | FAT4 | c.14934A>C (p.Glu4978Asp) c.9705A>C (p.Glu3235Asp) c.9651A>C (p.Glu3217Asp) c.14928A>C (p.Glu4976Asp) c.14931A>C (p.Glu4977Asp) |