Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.125468653A>CCA358128138FAT4c.12047A>C (p.Asn4016Thr)
c.6818A>C (p.Asn2273Thr)
c.6830A>C (p.Asn2277Thr)
c.12041A>C (p.Asn4014Thr)
4g.125468653A>GCA358128141FAT4c.12047A>G (p.Asn4016Ser)
c.6818A>G (p.Asn2273Ser)
c.6830A>G (p.Asn2277Ser)
c.12041A>G (p.Asn4014Ser)
 gnomAD v4
4g.125468653A>TCA358128144FAT4c.12047A>T (p.Asn4016Ile)
c.6818A>T (p.Asn2273Ile)
c.6830A>T (p.Asn2277Ile)
c.12041A>T (p.Asn4014Ile)
4g.125468654C>ACA358128147FAT4c.12048C>A (p.Asn4016Lys)
c.6819C>A (p.Asn2273Lys)
c.6831C>A (p.Asn2277Lys)
c.12042C>A (p.Asn4014Lys)
4g.125468654C>GCA358128153FAT4c.12048C>G (p.Asn4016Lys)
c.6819C>G (p.Asn2273Lys)
c.6831C>G (p.Asn2277Lys)
c.12042C>G (p.Asn4014Lys)
4g.125468654C>TCA441372949FAT4c.12048C>T (p.Asn4016=)
c.6819C>T (p.Asn2273=)
c.6831C>T (p.Asn2277=)
c.12042C>T (p.Asn4014=)
4g.125468655T>ACA358128157FAT4c.12049T>A (p.Tyr4017Asn)
c.6820T>A (p.Tyr2274Asn)
c.6832T>A (p.Tyr2278Asn)
c.12043T>A (p.Tyr4015Asn)
4g.125468655T>CCA358128162FAT4c.12049T>C (p.Tyr4017His)
c.6820T>C (p.Tyr2274His)
c.6832T>C (p.Tyr2278His)
c.12043T>C (p.Tyr4015His)
4g.125468655T>GCA358128159FAT4c.12049T>G (p.Tyr4017Asp)
c.6820T>G (p.Tyr2274Asp)
c.6832T>G (p.Tyr2278Asp)
c.12043T>G (p.Tyr4015Asp)
4g.125468656A=CA1491662347FAT4c.12050A= (p.Tyr4017=)
c.6821A= (p.Tyr2274=)
c.6833A= (p.Tyr2278=)
c.12044A= (p.Tyr4015=)
4g.125468656A>CCA358128165FAT4c.12050A>C (p.Tyr4017Ser)
c.6821A>C (p.Tyr2274Ser)
c.6833A>C (p.Tyr2278Ser)
c.12044A>C (p.Tyr4015Ser)
4g.125468656A>GCA358128171FAT4c.12050A>G (p.Tyr4017Cys)
c.6821A>G (p.Tyr2274Cys)
c.6833A>G (p.Tyr2278Cys)
c.12044A>G (p.Tyr4015Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125468656A>TCA358128168FAT4c.12050A>T (p.Tyr4017Phe)
c.6821A>T (p.Tyr2274Phe)
c.6833A>T (p.Tyr2278Phe)
c.12044A>T (p.Tyr4015Phe)
4g.125468657T>ACA358128174FAT4c.12051T>A (p.Tyr4017Ter)
c.6822T>A (p.Tyr2274Ter)
c.6834T>A (p.Tyr2278Ter)
c.12045T>A (p.Tyr4015Ter)
4g.125468657T>CCA3073998FAT4c.12051T>C (p.Tyr4017=)
c.6822T>C (p.Tyr2274=)
c.6834T>C (p.Tyr2278=)
c.12045T>C (p.Tyr4015=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125468657T>GCA358128178FAT4c.12051T>G (p.Tyr4017Ter)
c.6822T>G (p.Tyr2274Ter)
c.6834T>G (p.Tyr2278Ter)
c.12045T>G (p.Tyr4015Ter)
4g.125468657T=CA1491662348FAT4c.12051T= (p.Tyr4017=)
c.6822T= (p.Tyr2274=)
c.6834T= (p.Tyr2278=)
c.12045T= (p.Tyr4015=)
4g.125468658G>ACA358128183FAT4c.12052G>A (p.Asp4018Asn)
c.6823G>A (p.Asp2275Asn)
c.6835G>A (p.Asp2279Asn)
c.12046G>A (p.Asp4016Asn)
4g.125468658G>CCA358128185FAT4c.12052G>C (p.Asp4018His)
c.6823G>C (p.Asp2275His)
c.6835G>C (p.Asp2279His)
c.12046G>C (p.Asp4016His)
4g.125468658G>TCA358128187FAT4c.12052G>T (p.Asp4018Tyr)
c.6823G>T (p.Asp2275Tyr)
c.6835G>T (p.Asp2279Tyr)
c.12046G>T (p.Asp4016Tyr)
4g.125468659A>CCA358128191FAT4c.12053A>C (p.Asp4018Ala)
c.6824A>C (p.Asp2275Ala)
c.6836A>C (p.Asp2279Ala)
c.12047A>C (p.Asp4016Ala)
4g.125468659A>GCA358128194FAT4c.12053A>G (p.Asp4018Gly)
c.6824A>G (p.Asp2275Gly)
c.6836A>G (p.Asp2279Gly)
c.12047A>G (p.Asp4016Gly)
4g.125468659A>TCA358128195FAT4c.12053A>T (p.Asp4018Val)
c.6824A>T (p.Asp2275Val)
c.6836A>T (p.Asp2279Val)
c.12047A>T (p.Asp4016Val)
4g.125468660C>ACA358128197FAT4c.12054C>A (p.Asp4018Glu)
c.6825C>A (p.Asp2275Glu)
c.6837C>A (p.Asp2279Glu)
c.12048C>A (p.Asp4016Glu)
4g.125468660C=CA1491662349FAT4c.12054C= (p.Asp4018=)
c.6825C= (p.Asp2275=)
c.6837C= (p.Asp2279=)
c.12048C= (p.Asp4016=)
4g.125468660C>GCA358128200FAT4c.12054C>G (p.Asp4018Glu)
c.6825C>G (p.Asp2275Glu)
c.6837C>G (p.Asp2279Glu)
c.12048C>G (p.Asp4016Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125468660C>TCA441372955FAT4c.12054C>T (p.Asp4018=)
c.6825C>T (p.Asp2275=)
c.6837C>T (p.Asp2279=)
c.12048C>T (p.Asp4016=)
 gnomAD v4
4g.125468661A>CCA358128209FAT4c.12055A>C (p.Asn4019His)
c.6826A>C (p.Asn2276His)
c.6838A>C (p.Asn2280His)
c.12049A>C (p.Asn4017His)
4g.125468661A>GCA358128206FAT4c.12055A>G (p.Asn4019Asp)
c.6826A>G (p.Asn2276Asp)
c.6838A>G (p.Asn2280Asp)
c.12049A>G (p.Asn4017Asp)
4g.125468661A>TCA358128204FAT4c.12055A>T (p.Asn4019Tyr)
c.6826A>T (p.Asn2276Tyr)
c.6838A>T (p.Asn2280Tyr)
c.12049A>T (p.Asn4017Tyr)
4g.125468662A=CA1491662350FAT4c.12056A= (p.Asn4019=)
c.6827A= (p.Asn2276=)
c.6839A= (p.Asn2280=)
c.12050A= (p.Asn4017=)
4g.125468662A>CCA358128213FAT4c.12056A>C (p.Asn4019Thr)
c.6827A>C (p.Asn2276Thr)
c.6839A>C (p.Asn2280Thr)
c.12050A>C (p.Asn4017Thr)
4g.125468662A>GCA358128214FAT4c.12056A>G (p.Asn4019Ser)
c.6827A>G (p.Asn2276Ser)
c.6839A>G (p.Asn2280Ser)
c.12050A>G (p.Asn4017Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125468662A>TCA358128218FAT4c.12056A>T (p.Asn4019Ile)
c.6827A>T (p.Asn2276Ile)
c.6839A>T (p.Asn2280Ile)
c.12050A>T (p.Asn4017Ile)
4g.125468663C>ACA358128221FAT4c.12057C>A (p.Asn4019Lys)
c.6828C>A (p.Asn2276Lys)
c.6840C>A (p.Asn2280Lys)
c.12051C>A (p.Asn4017Lys)
4g.125468663C>GCA358128223FAT4c.12057C>G (p.Asn4019Lys)
c.6828C>G (p.Asn2276Lys)
c.6840C>G (p.Asn2280Lys)
c.12051C>G (p.Asn4017Lys)
 gnomAD v4
4g.125468663C>TCA441372957FAT4c.12057C>T (p.Asn4019=)
c.6828C>T (p.Asn2276=)
c.6840C>T (p.Asn2280=)
c.12051C>T (p.Asn4017=)
 gnomAD v4
4g.125468664C>ACA358128228FAT4c.12058C>A (p.Gln4020Lys)
c.6829C>A (p.Gln2277Lys)
c.6841C>A (p.Gln2281Lys)
c.12052C>A (p.Gln4018Lys)
4g.125468664C>GCA358128229FAT4c.12058C>G (p.Gln4020Glu)
c.6829C>G (p.Gln2277Glu)
c.6841C>G (p.Gln2281Glu)
c.12052C>G (p.Gln4018Glu)
4g.125468664C>TCA358128232FAT4c.12058C>T (p.Gln4020Ter)
c.6829C>T (p.Gln2277Ter)
c.6841C>T (p.Gln2281Ter)
c.12052C>T (p.Gln4018Ter)
4g.125468665A>CCA358128235FAT4c.12059A>C (p.Gln4020Pro)
c.6830A>C (p.Gln2277Pro)
c.6842A>C (p.Gln2281Pro)
c.12053A>C (p.Gln4018Pro)
4g.125468665A>GCA358128237FAT4c.12059A>G (p.Gln4020Arg)
c.6830A>G (p.Gln2277Arg)
c.6842A>G (p.Gln2281Arg)
c.12053A>G (p.Gln4018Arg)
 COSMIC COSMIC COSMIC
4g.125468665A>TCA358128239FAT4c.12059A>T (p.Gln4020Leu)
c.6830A>T (p.Gln2277Leu)
c.6842A>T (p.Gln2281Leu)
c.12053A>T (p.Gln4018Leu)
4g.125468666G>ACA441372969FAT4c.12060G>A (p.Gln4020=)
c.6831G>A (p.Gln2277=)
c.6843G>A (p.Gln2281=)
c.12054G>A (p.Gln4018=)
4g.125468666G>CCA358128242FAT4c.12060G>C (p.Gln4020His)
c.6831G>C (p.Gln2277His)
c.6843G>C (p.Gln2281His)
c.12054G>C (p.Gln4018His)
 gnomAD v4
4g.125468666G>TCA358128245FAT4c.12060G>T (p.Gln4020His)
c.6831G>T (p.Gln2277His)
c.6843G>T (p.Gln2281His)
c.12054G>T (p.Gln4018His)
4g.125468667A>CCA358128253FAT4c.12061A>C (p.Thr4021Pro)
c.6832A>C (p.Thr2278Pro)
c.6844A>C (p.Thr2282Pro)
c.12055A>C (p.Thr4019Pro)
4g.125468667A>GCA358128251FAT4c.12061A>G (p.Thr4021Ala)
c.6832A>G (p.Thr2278Ala)
c.6844A>G (p.Thr2282Ala)
c.12055A>G (p.Thr4019Ala)
4g.125468667A>TCA358128248FAT4c.12061A>T (p.Thr4021Ser)
c.6832A>T (p.Thr2278Ser)
c.6844A>T (p.Thr2282Ser)
c.12055A>T (p.Thr4019Ser)
4g.125468668C>ACA358128262FAT4c.12062C>A (p.Thr4021Lys)
c.6833C>A (p.Thr2278Lys)
c.6845C>A (p.Thr2282Lys)
c.12056C>A (p.Thr4019Lys)
4g.125468668C=CA1491662351FAT4c.12062C= (p.Thr4021=)
c.6833C= (p.Thr2278=)
c.6845C= (p.Thr2282=)
c.12056C= (p.Thr4019=)
4g.125468668C>GCA104860371FAT4c.12062C>G (p.Thr4021Arg)
c.6833C>G (p.Thr2278Arg)
c.6845C>G (p.Thr2282Arg)
c.12056C>G (p.Thr4019Arg)
 dbSNP gnomAD v4
4g.125468668C>TCA358128259FAT4c.12062C>T (p.Thr4021Ile)
c.6833C>T (p.Thr2278Ile)
c.6845C>T (p.Thr2282Ile)
c.12056C>T (p.Thr4019Ile)
4g.125468669A>CCA441372970FAT4c.12063A>C (p.Thr4021=)
c.6834A>C (p.Thr2278=)
c.6846A>C (p.Thr2282=)
c.12057A>C (p.Thr4019=)
4g.125468669A>GCA441372971FAT4c.12063A>G (p.Thr4021=)
c.6834A>G (p.Thr2278=)
c.6846A>G (p.Thr2282=)
c.12057A>G (p.Thr4019=)
4g.125468669A>TCA441372972FAT4c.12063A>T (p.Thr4021=)
c.6834A>T (p.Thr2278=)
c.6846A>T (p.Thr2282=)
c.12057A>T (p.Thr4019=)
4g.125468670G>ACA358128265FAT4c.12064G>A (p.Gly4022Ser)
c.6835G>A (p.Gly2279Ser)
c.6847G>A (p.Gly2283Ser)
c.12058G>A (p.Gly4020Ser)
4g.125468670G>CCA358128268FAT4c.12064G>C (p.Gly4022Arg)
c.6835G>C (p.Gly2279Arg)
c.6847G>C (p.Gly2283Arg)
c.12058G>C (p.Gly4020Arg)
 gnomAD v4
4g.125468670G>TCA358128270FAT4c.12064G>T (p.Gly4022Cys)
c.6835G>T (p.Gly2279Cys)
c.6847G>T (p.Gly2283Cys)
c.12058G>T (p.Gly4020Cys)
4g.125468671G>ACA358128272FAT4c.12065G>A (p.Gly4022Asp)
c.6836G>A (p.Gly2279Asp)
c.6848G>A (p.Gly2283Asp)
c.12059G>A (p.Gly4020Asp)
4g.125468671G>CCA358128274FAT4c.12065G>C (p.Gly4022Ala)
c.6836G>C (p.Gly2279Ala)
c.6848G>C (p.Gly2283Ala)
c.12059G>C (p.Gly4020Ala)
4g.125468671G=CA1491662352FAT4c.12065G= (p.Gly4022=)
c.6836G= (p.Gly2279=)
c.6848G= (p.Gly2283=)
c.12059G= (p.Gly4020=)
4g.125468671G>TCA358128277FAT4c.12065G>T (p.Gly4022Val)
c.6836G>T (p.Gly2279Val)
c.6848G>T (p.Gly2283Val)
c.12059G>T (p.Gly4020Val)
 dbSNP gnomAD v2 gnomAD v4
4g.125468672C>ACA441372973FAT4c.12066C>A (p.Gly4022=)
c.6837C>A (p.Gly2279=)
c.6849C>A (p.Gly2283=)
c.12060C>A (p.Gly4020=)
4g.125468672C=CA1491662353FAT4c.12066C= (p.Gly4022=)
c.6837C= (p.Gly2279=)
c.6849C= (p.Gly2283=)
c.12060C= (p.Gly4020=)
4g.125468672C>GCA441372974FAT4c.12066C>G (p.Gly4022=)
c.6837C>G (p.Gly2279=)
c.6849C>G (p.Gly2283=)
c.12060C>G (p.Gly4020=)
4g.125468672C>TCA3073999FAT4c.12066C>T (p.Gly4022=)
c.6837C>T (p.Gly2279=)
c.6849C>T (p.Gly2283=)
c.12060C>T (p.Gly4020=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.125468673G>ACA3074000FAT4c.12067G>A (p.Asp4023Asn)
c.6838G>A (p.Asp2280Asn)
c.6850G>A (p.Asp2284Asn)
c.12061G>A (p.Asp4021Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
4g.125468673G>CCA358128286FAT4c.12067G>C (p.Asp4023His)
c.6838G>C (p.Asp2280His)
c.6850G>C (p.Asp2284His)
c.12061G>C (p.Asp4021His)
4g.125468673G=CA1491662354FAT4c.12067G= (p.Asp4023=)
c.6838G= (p.Asp2280=)
c.6850G= (p.Asp2284=)
c.12061G= (p.Asp4021=)
4g.125468673G>TCA358128289FAT4c.12067G>T (p.Asp4023Tyr)
c.6838G>T (p.Asp2280Tyr)
c.6850G>T (p.Asp2284Tyr)
c.12061G>T (p.Asp4021Tyr)
4g.125468674A>CCA358128294FAT4c.12068A>C (p.Asp4023Ala)
c.6839A>C (p.Asp2280Ala)
c.6851A>C (p.Asp2284Ala)
c.12062A>C (p.Asp4021Ala)
4g.125468674A>GCA358128297FAT4c.12068A>G (p.Asp4023Gly)
c.6839A>G (p.Asp2280Gly)
c.6851A>G (p.Asp2284Gly)
c.12062A>G (p.Asp4021Gly)
 COSMIC COSMIC
4g.125468674A>TCA358128291FAT4c.12068A>T (p.Asp4023Val)
c.6839A>T (p.Asp2280Val)
c.6851A>T (p.Asp2284Val)
c.12062A>T (p.Asp4021Val)
 COSMIC COSMIC
4g.125468675C>ACA358128301FAT4c.12069C>A (p.Asp4023Glu)
c.6840C>A (p.Asp2280Glu)
c.6852C>A (p.Asp2284Glu)
c.12063C>A (p.Asp4021Glu)
4g.125468675C=CA1491662355FAT4c.12069C= (p.Asp4023=)
c.6840C= (p.Asp2280=)
c.6852C= (p.Asp2284=)
c.12063C= (p.Asp4021=)
4g.125468675C>GCA358128304FAT4c.12069C>G (p.Asp4023Glu)
c.6840C>G (p.Asp2280Glu)
c.6852C>G (p.Asp2284Glu)
c.12063C>G (p.Asp4021Glu)
 dbSNP gnomAD v3 gnomAD v4
4g.125468675C>TCA3074001FAT4c.12069C>T (p.Asp4023=)
c.6840C>T (p.Asp2280=)
c.6852C>T (p.Asp2284=)
c.12063C>T (p.Asp4021=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125468676C>ACA441372975FAT4c.12070C>A (p.Arg4024=)
c.6841C>A (p.Arg2281=)
c.6853C>A (p.Arg2285=)
c.12064C>A (p.Arg4022=)
 dbSNP gnomAD v2 gnomAD v4
4g.125468676C=CA1491662356FAT4c.12070C= (p.Arg4024=)
c.6841C= (p.Arg2281=)
c.6853C= (p.Arg2285=)
c.12064C= (p.Arg4022=)
4g.125468676C>GCA358128309FAT4c.12070C>G (p.Arg4024Gly)
c.6841C>G (p.Arg2281Gly)
c.6853C>G (p.Arg2285Gly)
c.12064C>G (p.Arg4022Gly)
4g.125468676C>TCA3074002FAT4c.12070C>T (p.Arg4024Trp)
c.6841C>T (p.Arg2281Trp)
c.6853C>T (p.Arg2285Trp)
c.12064C>T (p.Arg4022Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125468677G>ACA3074003FAT4c.12071G>A (p.Arg4024Gln)
c.6842G>A (p.Arg2281Gln)
c.6854G>A (p.Arg2285Gln)
c.12065G>A (p.Arg4022Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125468677G>CCA358128314FAT4c.12071G>C (p.Arg4024Pro)
c.6842G>C (p.Arg2281Pro)
c.6854G>C (p.Arg2285Pro)
c.12065G>C (p.Arg4022Pro)
4g.125468677G=CA1491662357FAT4c.12071G= (p.Arg4024=)
c.6842G= (p.Arg2281=)
c.6854G= (p.Arg2285=)
c.12065G= (p.Arg4022=)
4g.125468677G>TCA358128315FAT4c.12071G>T (p.Arg4024Leu)
c.6842G>T (p.Arg2281Leu)
c.6854G>T (p.Arg2285Leu)
c.12065G>T (p.Arg4022Leu)
4g.125468678G>ACA441372976FAT4c.12072G>A (p.Arg4024=)
c.6843G>A (p.Arg2281=)
c.6855G>A (p.Arg2285=)
c.12066G>A (p.Arg4022=)
4g.125468678G>CCA441372977FAT4c.12072G>C (p.Arg4024=)
c.6843G>C (p.Arg2281=)
c.6855G>C (p.Arg2285=)
c.12066G>C (p.Arg4022=)
4g.125468678G>TCA441372978FAT4c.12072G>T (p.Arg4024=)
c.6843G>T (p.Arg2281=)
c.6855G>T (p.Arg2285=)
c.12066G>T (p.Arg4022=)
4g.125468679G>ACA358128320FAT4c.12073G>A (p.Ala4025Thr)
c.6844G>A (p.Ala2282Thr)
c.6856G>A (p.Ala2286Thr)
c.12067G>A (p.Ala4023Thr)
4g.125468679G>CCA358128323FAT4c.12073G>C (p.Ala4025Pro)
c.6844G>C (p.Ala2282Pro)
c.6856G>C (p.Ala2286Pro)
c.12067G>C (p.Ala4023Pro)
4g.125468679G>TCA358128326FAT4c.12073G>T (p.Ala4025Ser)
c.6844G>T (p.Ala2282Ser)
c.6856G>T (p.Ala2286Ser)
c.12067G>T (p.Ala4023Ser)
 COSMIC COSMIC COSMIC
4g.125468680C>ACA358128330FAT4c.12074C>A (p.Ala4025Asp)
c.6845C>A (p.Ala2282Asp)
c.6857C>A (p.Ala2286Asp)
c.12068C>A (p.Ala4023Asp)
4g.125468680C=CA1491662358FAT4c.12074C= (p.Ala4025=)
c.6845C= (p.Ala2282=)
c.6857C= (p.Ala2286=)
c.12068C= (p.Ala4023=)
4g.125468680C>GCA358128333FAT4c.12074C>G (p.Ala4025Gly)
c.6845C>G (p.Ala2282Gly)
c.6857C>G (p.Ala2286Gly)
c.12068C>G (p.Ala4023Gly)
 gnomAD v4
4g.125468680C>TCA3074004FAT4c.12074C>T (p.Ala4025Val)
c.6845C>T (p.Ala2282Val)
c.6857C>T (p.Ala2286Val)
c.12068C>T (p.Ala4023Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125468681T>ACA441372979FAT4c.12075T>A (p.Ala4025=)
c.6846T>A (p.Ala2282=)
c.6858T>A (p.Ala2286=)
c.12069T>A (p.Ala4023=)
4g.125468681T>CCA441372980FAT4c.12075T>C (p.Ala4025=)
c.6846T>C (p.Ala2282=)
c.6858T>C (p.Ala2286=)
c.12069T>C (p.Ala4023=)
4g.125468681T>GCA441372981FAT4c.12075T>G (p.Ala4025=)
c.6846T>G (p.Ala2282=)
c.6858T>G (p.Ala2286=)
c.12069T>G (p.Ala4023=)
4g.125468682G>ACA358128339FAT4c.12076G>A (p.Glu4026Lys)
c.6847G>A (p.Glu2283Lys)
c.6859G>A (p.Glu2287Lys)
c.12070G>A (p.Glu4024Lys)
4g.125468682G>CCA358128343FAT4c.12076G>C (p.Glu4026Gln)
c.6847G>C (p.Glu2283Gln)
c.6859G>C (p.Glu2287Gln)
c.12070G>C (p.Glu4024Gln)
4g.125468682G>TCA358128338FAT4c.12076G>T (p.Glu4026Ter)
c.6847G>T (p.Glu2283Ter)
c.6859G>T (p.Glu2287Ter)
c.12070G>T (p.Glu4024Ter)
4g.125468683A=CA1491662359FAT4c.12077A= (p.Glu4026=)
c.6848A= (p.Glu2283=)
c.6860A= (p.Glu2287=)
c.12071A= (p.Glu4024=)
4g.125468683A>CCA358128346FAT4c.12077A>C (p.Glu4026Ala)
c.6848A>C (p.Glu2283Ala)
c.6860A>C (p.Glu2287Ala)
c.12071A>C (p.Glu4024Ala)
4g.125468683A>GCA358128351FAT4c.12077A>G (p.Glu4026Gly)
c.6848A>G (p.Glu2283Gly)
c.6860A>G (p.Glu2287Gly)
c.12071A>G (p.Glu4024Gly)
 dbSNP gnomAD v2 gnomAD v4
4g.125468683A>TCA358128348FAT4c.12077A>T (p.Glu4026Val)
c.6848A>T (p.Glu2283Val)
c.6860A>T (p.Glu2287Val)
c.12071A>T (p.Glu4024Val)
4g.125468684G>ACA441372982FAT4c.12078G>A (p.Glu4026=)
c.6849G>A (p.Glu2283=)
c.6861G>A (p.Glu2287=)
c.12072G>A (p.Glu4024=)
 ClinVar dbSNP
4g.125468684G>CCA358128352FAT4c.12078G>C (p.Glu4026Asp)
c.6849G>C (p.Glu2283Asp)
c.6861G>C (p.Glu2287Asp)
c.12072G>C (p.Glu4024Asp)
4g.125468684G>TCA358128354FAT4c.12078G>T (p.Glu4026Asp)
c.6849G>T (p.Glu2283Asp)
c.6861G>T (p.Glu2287Asp)
c.12072G>T (p.Glu4024Asp)
4g.125468685T>ACA358128357FAT4c.12079T>A (p.Phe4027Ile)
c.6850T>A (p.Phe2284Ile)
c.6862T>A (p.Phe2288Ile)
c.12073T>A (p.Phe4025Ile)
4g.125468685T>CCA358128359FAT4c.12079T>C (p.Phe4027Leu)
c.6850T>C (p.Phe2284Leu)
c.6862T>C (p.Phe2288Leu)
c.12073T>C (p.Phe4025Leu)
4g.125468685T>GCA358128363FAT4c.12079T>G (p.Phe4027Val)
c.6850T>G (p.Phe2284Val)
c.6862T>G (p.Phe2288Val)
c.12073T>G (p.Phe4025Val)
4g.125468689delCA2672011534FAT4c.12083del (p.Leu4028TrpfsTer10)
c.6854del (p.Leu2285TrpfsTer10)
c.6866del (p.Leu2289TrpfsTer10)
c.12077del (p.Leu4026TrpfsTer10)
 gnomAD v4
4g.125468686T>ACA358128366FAT4c.12080T>A (p.Phe4027Tyr)
c.6851T>A (p.Phe2284Tyr)
c.6863T>A (p.Phe2288Tyr)
c.12074T>A (p.Phe4025Tyr)
4g.125468686T>CCA358128367FAT4c.12080T>C (p.Phe4027Ser)
c.6851T>C (p.Phe2284Ser)
c.6863T>C (p.Phe2288Ser)
c.12074T>C (p.Phe4025Ser)
4g.125468686T>GCA358128371FAT4c.12080T>G (p.Phe4027Cys)
c.6851T>G (p.Phe2284Cys)
c.6863T>G (p.Phe2288Cys)
c.12074T>G (p.Phe4025Cys)
4g.125468687T>ACA358128374FAT4c.12081T>A (p.Phe4027Leu)
c.6852T>A (p.Phe2284Leu)
c.6864T>A (p.Phe2288Leu)
c.12075T>A (p.Phe4025Leu)
4g.125468687T>CCA441372983FAT4c.12081T>C (p.Phe4027=)
c.6852T>C (p.Phe2284=)
c.6864T>C (p.Phe2288=)
c.12075T>C (p.Phe4025=)
4g.125468687T>GCA358128377FAT4c.12081T>G (p.Phe4027Leu)
c.6852T>G (p.Phe2284Leu)
c.6864T>G (p.Phe2288Leu)
c.12075T>G (p.Phe4025Leu)
4g.125468688T>ACA358128379FAT4c.12082T>A (p.Leu4028Met)
c.6853T>A (p.Leu2285Met)
c.6865T>A (p.Leu2289Met)
c.12076T>A (p.Leu4026Met)
4g.125468688T>CCA441372984FAT4c.12082T>C (p.Leu4028=)
c.6853T>C (p.Leu2285=)
c.6865T>C (p.Leu2289=)
c.12076T>C (p.Leu4026=)
 ClinVar
4g.125468688T>GCA358128382FAT4c.12082T>G (p.Leu4028Val)
c.6853T>G (p.Leu2285Val)
c.6865T>G (p.Leu2289Val)
c.12076T>G (p.Leu4026Val)
4g.125468689T>ACA358128391FAT4c.12083T>A (p.Leu4028Ter)
c.6854T>A (p.Leu2285Ter)
c.6866T>A (p.Leu2289Ter)
c.12077T>A (p.Leu4026Ter)
4g.125468689T>CCA358128386FAT4c.12083T>C (p.Leu4028Ser)
c.6854T>C (p.Leu2285Ser)
c.6866T>C (p.Leu2289Ser)
c.12077T>C (p.Leu4026Ser)
 COSMIC COSMIC COSMIC
4g.125468689T>GCA358128389FAT4c.12083T>G (p.Leu4028Trp)
c.6854T>G (p.Leu2285Trp)
c.6866T>G (p.Leu2289Trp)
c.12077T>G (p.Leu4026Trp)
4g.125468690G>ACA3074005FAT4c.12084G>A (p.Leu4028=)
c.6855G>A (p.Leu2285=)
c.6867G>A (p.Leu2289=)
c.12078G>A (p.Leu4026=)
 dbSNP ExAC gnomAD v2
4g.125468690G>CCA358128398FAT4c.12084G>C (p.Leu4028Phe)
c.6855G>C (p.Leu2285Phe)
c.6867G>C (p.Leu2289Phe)
c.12078G>C (p.Leu4026Phe)
4g.125468690G=CA1491662360FAT4c.12084G= (p.Leu4028=)
c.6855G= (p.Leu2285=)
c.6867G= (p.Leu2289=)
c.12078G= (p.Leu4026=)
4g.125468690G>TCA358128400FAT4c.12084G>T (p.Leu4028Phe)
c.6855G>T (p.Leu2285Phe)
c.6867G>T (p.Leu2289Phe)
c.12078G>T (p.Leu4026Phe)
4g.125468691delCA2571095342FAT4c.12085del (p.Ala4029ProfsTer9)
c.6856del (p.Ala2286ProfsTer9)
c.6868del (p.Ala2290ProfsTer9)
c.12079del (p.Ala4027ProfsTer9)
4g.125468691G>ACA3074006FAT4c.12085G>A (p.Ala4029Thr)
c.6856G>A (p.Ala2286Thr)
c.6868G>A (p.Ala2290Thr)
c.12079G>A (p.Ala4027Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125468691G>CCA358128405FAT4c.12085G>C (p.Ala4029Pro)
c.6856G>C (p.Ala2286Pro)
c.6868G>C (p.Ala2290Pro)
c.12079G>C (p.Ala4027Pro)
4g.125468691G=CA1491662361FAT4c.12085G= (p.Ala4029=)
c.6856G= (p.Ala2286=)
c.6868G= (p.Ala2290=)
c.12079G= (p.Ala4027=)
4g.125468691G>TCA358128408FAT4c.12085G>T (p.Ala4029Ser)
c.6856G>T (p.Ala2286Ser)
c.6868G>T (p.Ala2290Ser)
c.12079G>T (p.Ala4027Ser)
 COSMIC COSMIC COSMIC
4g.125468692C>ACA358128412FAT4c.12086C>A (p.Ala4029Asp)
c.6857C>A (p.Ala2286Asp)
c.6869C>A (p.Ala2290Asp)
c.12080C>A (p.Ala4027Asp)
4g.125468692C>GCA358128415FAT4c.12086C>G (p.Ala4029Gly)
c.6857C>G (p.Ala2286Gly)
c.6869C>G (p.Ala2290Gly)
c.12080C>G (p.Ala4027Gly)
4g.125468692C>TCA358128419FAT4c.12086C>T (p.Ala4029Val)
c.6857C>T (p.Ala2286Val)
c.6869C>T (p.Ala2290Val)
c.12080C>T (p.Ala4027Val)
4g.125468693C>ACA3074007FAT4c.12087C>A (p.Ala4029=)
c.6858C>A (p.Ala2286=)
c.6870C>A (p.Ala2290=)
c.12081C>A (p.Ala4027=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125468693C=CA1491662362FAT4c.12087C= (p.Ala4029=)
c.6858C= (p.Ala2286=)
c.6870C= (p.Ala2290=)
c.12081C= (p.Ala4027=)
4g.125468693C>GCA3074008FAT4c.12087C>G (p.Ala4029=)
c.6858C>G (p.Ala2286=)
c.6870C>G (p.Ala2290=)
c.12081C>G (p.Ala4027=)
 dbSNP ExAC gnomAD v3 gnomAD v4
4g.125468693C>TCA441372985FAT4c.12087C>T (p.Ala4029=)
c.6858C>T (p.Ala2286=)
c.6870C>T (p.Ala2290=)
c.12081C>T (p.Ala4027=)
 gnomAD v4
4g.125468694C>ACA358128430FAT4c.12088C>A (p.Leu4030Ile)
c.6859C>A (p.Leu2287Ile)
c.6871C>A (p.Leu2291Ile)
c.12082C>A (p.Leu4028Ile)
4g.125468694C=CA1491662363FAT4c.12088C= (p.Leu4030=)
c.6859C= (p.Leu2287=)
c.6871C= (p.Leu2291=)
c.12082C= (p.Leu4028=)
4g.125468694C>GCA358128428FAT4c.12088C>G (p.Leu4030Val)
c.6859C>G (p.Leu2287Val)
c.6871C>G (p.Leu2291Val)
c.12082C>G (p.Leu4028Val)
 COSMIC COSMIC
4g.125468694C>TCA3074009FAT4c.12088C>T (p.Leu4030Phe)
c.6859C>T (p.Leu2287Phe)
c.6871C>T (p.Leu2291Phe)
c.12082C>T (p.Leu4028Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125468695T>ACA358128433FAT4c.12089T>A (p.Leu4030His)
c.6860T>A (p.Leu2287His)
c.6872T>A (p.Leu2291His)
c.12083T>A (p.Leu4028His)
4g.125468695T>CCA358128435FAT4c.12089T>C (p.Leu4030Pro)
c.6860T>C (p.Leu2287Pro)
c.6872T>C (p.Leu2291Pro)
c.12083T>C (p.Leu4028Pro)
4g.125468695T>GCA358128442FAT4c.12089T>G (p.Leu4030Arg)
c.6860T>G (p.Leu2287Arg)
c.6872T>G (p.Leu2291Arg)
c.12083T>G (p.Leu4028Arg)
4g.125468696T>ACA441372986FAT4c.12090T>A (p.Leu4030=)
c.6861T>A (p.Leu2287=)
c.6873T>A (p.Leu2291=)
c.12084T>A (p.Leu4028=)
4g.125468696T>CCA441372987FAT4c.12090T>C (p.Leu4030=)
c.6861T>C (p.Leu2287=)
c.6873T>C (p.Leu2291=)
c.12084T>C (p.Leu4028=)
 gnomAD v4
4g.125468696T>GCA441372988FAT4c.12090T>G (p.Leu4030=)
c.6861T>G (p.Leu2287=)
c.6873T>G (p.Leu2291=)
c.12084T>G (p.Leu4028=)
 gnomAD v4
4g.125468697G>ACA358128444FAT4c.12091G>A (p.Glu4031Lys)
c.6862G>A (p.Glu2288Lys)
c.6874G>A (p.Glu2292Lys)
c.12085G>A (p.Glu4029Lys)
 ClinVar dbSNP
4g.125468697G>CCA358128447FAT4c.12091G>C (p.Glu4031Gln)
c.6862G>C (p.Glu2288Gln)
c.6874G>C (p.Glu2292Gln)
c.12085G>C (p.Glu4029Gln)
4g.125468697G=CA1491662364FAT4c.12091G= (p.Glu4031=)
c.6862G= (p.Glu2288=)
c.6874G= (p.Glu2292=)
c.12085G= (p.Glu4029=)
4g.125468697G>TCA358128449FAT4c.12091G>T (p.Glu4031Ter)
c.6862G>T (p.Glu2288Ter)
c.6874G>T (p.Glu2292Ter)
c.12085G>T (p.Glu4029Ter)
4g.125468698A>CCA358128461FAT4c.12092A>C (p.Glu4031Ala)
c.6863A>C (p.Glu2288Ala)
c.6875A>C (p.Glu2292Ala)
c.12086A>C (p.Glu4029Ala)
4g.125468698A>GCA358128452FAT4c.12092A>G (p.Glu4031Gly)
c.6863A>G (p.Glu2288Gly)
c.6875A>G (p.Glu2292Gly)
c.12086A>G (p.Glu4029Gly)
4g.125468698A>TCA358128455FAT4c.12092A>T (p.Glu4031Val)
c.6863A>T (p.Glu2288Val)
c.6875A>T (p.Glu2292Val)
c.12086A>T (p.Glu4029Val)
4g.125468699A>CCA358128463FAT4c.12093A>C (p.Glu4031Asp)
c.6864A>C (p.Glu2288Asp)
c.6876A>C (p.Glu2292Asp)
c.12087A>C (p.Glu4029Asp)
4g.125468699A>GCA441372989FAT4c.12093A>G (p.Glu4031=)
c.6864A>G (p.Glu2288=)
c.6876A>G (p.Glu2292=)
c.12087A>G (p.Glu4029=)
4g.125468699A>TCA358128465FAT4c.12093A>T (p.Glu4031Asp)
c.6864A>T (p.Glu2288Asp)
c.6876A>T (p.Glu2292Asp)
c.12087A>T (p.Glu4029Asp)
 ClinVar dbSNP
4g.125468700A>CCA358128468FAT4c.12094A>C (p.Ile4032Leu)
c.6865A>C (p.Ile2289Leu)
c.6877A>C (p.Ile2293Leu)
c.12088A>C (p.Ile4030Leu)
4g.125468700A>GCA358128471FAT4c.12094A>G (p.Ile4032Val)
c.6865A>G (p.Ile2289Val)
c.6877A>G (p.Ile2293Val)
c.12088A>G (p.Ile4030Val)
4g.125468700A>TCA358128473FAT4c.12094A>T (p.Ile4032Phe)
c.6865A>T (p.Ile2289Phe)
c.6877A>T (p.Ile2293Phe)
c.12088A>T (p.Ile4030Phe)
4g.125468701T>ACA358128475FAT4c.12095T>A (p.Ile4032Asn)
c.6866T>A (p.Ile2289Asn)
c.6878T>A (p.Ile2293Asn)
c.12089T>A (p.Ile4030Asn)
4g.125468701T>CCA358128481FAT4c.12095T>C (p.Ile4032Thr)
c.6866T>C (p.Ile2289Thr)
c.6878T>C (p.Ile2293Thr)
c.12089T>C (p.Ile4030Thr)
4g.125468701T>GCA358128478FAT4c.12095T>G (p.Ile4032Ser)
c.6866T>G (p.Ile2289Ser)
c.6878T>G (p.Ile2293Ser)
c.12089T>G (p.Ile4030Ser)
4g.125468702T>ACA441372990FAT4c.12096T>A (p.Ile4032=)
c.6867T>A (p.Ile2289=)
c.6879T>A (p.Ile2293=)
c.12090T>A (p.Ile4030=)
4g.125468702T>CCA441372991FAT4c.12096T>C (p.Ile4032=)
c.6867T>C (p.Ile2289=)
c.6879T>C (p.Ile2293=)
c.12090T>C (p.Ile4030=)
4g.125468702T>GCA358128486FAT4c.12096T>G (p.Ile4032Met)
c.6867T>G (p.Ile2289Met)
c.6879T>G (p.Ile2293Met)
c.12090T>G (p.Ile4030Met)
4g.125468703G>ACA358128487FAT4c.12097G>A (p.Ala4033Thr)
c.6868G>A (p.Ala2290Thr)
c.6880G>A (p.Ala2294Thr)
c.12091G>A (p.Ala4031Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.125468703G>CCA358128490FAT4c.12097G>C (p.Ala4033Pro)
c.6868G>C (p.Ala2290Pro)
c.6880G>C (p.Ala2294Pro)
c.12091G>C (p.Ala4031Pro)
4g.125468703G=CA1491662365FAT4c.12097G= (p.Ala4033=)
c.6868G= (p.Ala2290=)
c.6880G= (p.Ala2294=)
c.12091G= (p.Ala4031=)
4g.125468703G>TCA358128492FAT4c.12097G>T (p.Ala4033Ser)
c.6868G>T (p.Ala2290Ser)
c.6880G>T (p.Ala2294Ser)
c.12091G>T (p.Ala4031Ser)
4g.125468704C>ACA358128495FAT4c.12098C>A (p.Ala4033Asp)
c.6869C>A (p.Ala2290Asp)
c.6881C>A (p.Ala2294Asp)
c.12092C>A (p.Ala4031Asp)
4g.125468704C>GCA358128496FAT4c.12098C>G (p.Ala4033Gly)
c.6869C>G (p.Ala2290Gly)
c.6881C>G (p.Ala2294Gly)
c.12092C>G (p.Ala4031Gly)
4g.125468704C>TCA358128500FAT4c.12098C>T (p.Ala4033Val)
c.6869C>T (p.Ala2290Val)
c.6881C>T (p.Ala2294Val)
c.12092C>T (p.Ala4031Val)
 COSMIC COSMIC
4g.125468705C>ACA104860407FAT4c.12099C>A (p.Ala4033=)
c.6870C>A (p.Ala2290=)
c.6882C>A (p.Ala2294=)
c.12093C>A (p.Ala4031=)
 ClinVar dbSNP
4g.125468705C=CA1491662366FAT4c.12099C= (p.Ala4033=)
c.6870C= (p.Ala2290=)
c.6882C= (p.Ala2294=)
c.12093C= (p.Ala4031=)
4g.125468705C>GCA441372992FAT4c.12099C>G (p.Ala4033=)
c.6870C>G (p.Ala2290=)
c.6882C>G (p.Ala2294=)
c.12093C>G (p.Ala4031=)
4g.125468705C>TCA3074010FAT4c.12099C>T (p.Ala4033=)
c.6870C>T (p.Ala2290=)
c.6882C>T (p.Ala2294=)
c.12093C>T (p.Ala4031=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.125468706G>ACA358128505FAT4c.12100G>A (p.Glu4034Lys)
c.6871G>A (p.Glu2291Lys)
c.6883G>A (p.Glu2295Lys)
c.12094G>A (p.Glu4032Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.125468706G>CCA358128506FAT4c.12100G>C (p.Glu4034Gln)
c.6871G>C (p.Glu2291Gln)
c.6883G>C (p.Glu2295Gln)
c.12094G>C (p.Glu4032Gln)
4g.125468706G=CA1491662367FAT4c.12100G= (p.Glu4034=)
c.6871G= (p.Glu2291=)
c.6883G= (p.Glu2295=)
c.12094G= (p.Glu4032=)
4g.125468706G>TCA358128510FAT4c.12100G>T (p.Glu4034Ter)
c.6871G>T (p.Glu2291Ter)
c.6883G>T (p.Glu2295Ter)
c.12094G>T (p.Glu4032Ter)
4g.125468707A>CCA358128512FAT4c.12101A>C (p.Glu4034Ala)
c.6872A>C (p.Glu2291Ala)
c.6884A>C (p.Glu2295Ala)
c.12095A>C (p.Glu4032Ala)
4g.125468707A>GCA358128517FAT4c.12101A>G (p.Glu4034Gly)
c.6872A>G (p.Glu2291Gly)
c.6884A>G (p.Glu2295Gly)
c.12095A>G (p.Glu4032Gly)
4g.125468707A>TCA358128515FAT4c.12101A>T (p.Glu4034Val)
c.6872A>T (p.Glu2291Val)
c.6884A>T (p.Glu2295Val)
c.12095A>T (p.Glu4032Val)
4g.125468711_125468714delCA2672011535FAT4c.12105_12108del (p.Glu4035AspfsTer2)
c.6876_6879del (p.Glu2292AspfsTer2)
c.6888_6891del (p.Glu2296AspfsTer2)
c.12099_12102del (p.Glu4033AspfsTer2)
 gnomAD v4
4g.125468708A>CCA358128520FAT4c.12102A>C (p.Glu4034Asp)
c.6873A>C (p.Glu2291Asp)
c.6885A>C (p.Glu2295Asp)
c.12096A>C (p.Glu4032Asp)
4g.125468708A>GCA441372993FAT4c.12102A>G (p.Glu4034=)
c.6873A>G (p.Glu2291=)
c.6885A>G (p.Glu2295=)
c.12096A>G (p.Glu4032=)
4g.125468708A>TCA358128521FAT4c.12102A>T (p.Glu4034Asp)
c.6873A>T (p.Glu2291Asp)
c.6885A>T (p.Glu2295Asp)
c.12096A>T (p.Glu4032Asp)
4g.125468709G>ACA358128525FAT4c.12103G>A (p.Glu4035Lys)
c.6874G>A (p.Glu2292Lys)
c.6886G>A (p.Glu2296Lys)
c.12097G>A (p.Glu4033Lys)
4g.125468709G>CCA358128532FAT4c.12103G>C (p.Glu4035Gln)
c.6874G>C (p.Glu2292Gln)
c.6886G>C (p.Glu2296Gln)
c.12097G>C (p.Glu4033Gln)
 gnomAD v4
4g.125468709G>TCA358128530FAT4c.12103G>T (p.Glu4035Ter)
c.6874G>T (p.Glu2292Ter)
c.6886G>T (p.Glu2296Ter)
c.12097G>T (p.Glu4033Ter)
 COSMIC COSMIC
4g.125468710A>CCA358128534FAT4c.12104A>C (p.Glu4035Ala)
c.6875A>C (p.Glu2292Ala)
c.6887A>C (p.Glu2296Ala)
c.12098A>C (p.Glu4033Ala)
4g.125468710A>GCA358128535FAT4c.12104A>G (p.Glu4035Gly)
c.6875A>G (p.Glu2292Gly)
c.6887A>G (p.Glu2296Gly)
c.12098A>G (p.Glu4033Gly)
4g.125468710A>TCA358128538FAT4c.12104A>T (p.Glu4035Val)
c.6875A>T (p.Glu2292Val)
c.6887A>T (p.Glu2296Val)
c.12098A>T (p.Glu4033Val)
4g.125468711A>CCA358128542FAT4c.12105A>C (p.Glu4035Asp)
c.6876A>C (p.Glu2292Asp)
c.6888A>C (p.Glu2296Asp)
c.12099A>C (p.Glu4033Asp)
4g.125468711A>GCA441372994FAT4c.12105A>G (p.Glu4035=)
c.6876A>G (p.Glu2292=)
c.6888A>G (p.Glu2296=)
c.12099A>G (p.Glu4033=)
4g.125468711A>TCA358128543FAT4c.12105A>T (p.Glu4035Asp)
c.6876A>T (p.Glu2292Asp)
c.6888A>T (p.Glu2296Asp)
c.12099A>T (p.Glu4033Asp)
4g.125468712A=CA1491662368FAT4c.12106A= (p.Arg4036=)
c.6877A= (p.Arg2293=)
c.6889A= (p.Arg2297=)
c.12100A= (p.Arg4034=)
4g.125468712A>CCA441372995FAT4c.12106A>C (p.Arg4036=)
c.6877A>C (p.Arg2293=)
c.6889A>C (p.Arg2297=)
c.12100A>C (p.Arg4034=)
4g.125468712A>GCA358128549FAT4c.12106A>G (p.Arg4036Gly)
c.6877A>G (p.Arg2293Gly)
c.6889A>G (p.Arg2297Gly)
c.12100A>G (p.Arg4034Gly)
 dbSNP gnomAD v4
4g.125468712A>TCA358128550FAT4c.12106A>T (p.Arg4036Ter)
c.6877A>T (p.Arg2293Ter)
c.6889A>T (p.Arg2297Ter)
c.12100A>T (p.Arg4034Ter)
4g.125468713G>ACA358128553FAT4c.12107G>A (p.Arg4036Lys)
c.6878G>A (p.Arg2293Lys)
c.6890G>A (p.Arg2297Lys)
c.12101G>A (p.Arg4034Lys)
4g.125468713G>CCA104860416FAT4c.12107G>C (p.Arg4036Thr)
c.6878G>C (p.Arg2293Thr)
c.6890G>C (p.Arg2297Thr)
c.12101G>C (p.Arg4034Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.125468713G=CA1491662369FAT4c.12107G= (p.Arg4036=)
c.6878G= (p.Arg2293=)
c.6890G= (p.Arg2297=)
c.12101G= (p.Arg4034=)
4g.125468713G>TCA358128558FAT4c.12107G>T (p.Arg4036Ile)
c.6878G>T (p.Arg2293Ile)
c.6890G>T (p.Arg2297Ile)
c.12101G>T (p.Arg4034Ile)
4g.125468714A=CA1491662370FAT4c.12108A= (p.Arg4036=)
c.6879A= (p.Arg2293=)
c.6891A= (p.Arg2297=)
c.12102A= (p.Arg4034=)
4g.125468714A>CCA358128561FAT4c.12108A>C (p.Arg4036Ser)
c.6879A>C (p.Arg2293Ser)
c.6891A>C (p.Arg2297Ser)
c.12102A>C (p.Arg4034Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125468714A>GCA3074011FAT4c.12108A>G (p.Arg4036=)
c.6879A>G (p.Arg2293=)
c.6891A>G (p.Arg2297=)
c.12102A>G (p.Arg4034=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125468714A>TCA358128566FAT4c.12108A>T (p.Arg4036Ser)
c.6879A>T (p.Arg2293Ser)
c.6891A>T (p.Arg2297Ser)
c.12102A>T (p.Arg4034Ser)
4g.125468715C>ACA358128571FAT4c.12109C>A (p.Leu4037Ile)
c.6880C>A (p.Leu2294Ile)
c.6892C>A (p.Leu2298Ile)
c.12103C>A (p.Leu4035Ile)
4g.125468715C=CA1491662371FAT4c.12109C= (p.Leu4037=)
c.6880C= (p.Leu2294=)
c.6892C= (p.Leu2298=)
c.12103C= (p.Leu4035=)
4g.125468715C>GCA358128573FAT4c.12109C>G (p.Leu4037Val)
c.6880C>G (p.Leu2294Val)
c.6892C>G (p.Leu2298Val)
c.12103C>G (p.Leu4035Val)
 COSMIC COSMIC COSMIC
4g.125468715C>TCA441372996FAT4c.12109C>T (p.Leu4037=)
c.6880C>T (p.Leu2294=)
c.6892C>T (p.Leu2298=)
c.12103C>T (p.Leu4035=)
 dbSNP gnomAD v2 gnomAD v4
4g.125468716T>ACA358128576FAT4c.12110T>A (p.Leu4037Gln)
c.6881T>A (p.Leu2294Gln)
c.6893T>A (p.Leu2298Gln)
c.12104T>A (p.Leu4035Gln)
4g.125468716T>CCA358128579FAT4c.12110T>C (p.Leu4037Pro)
c.6881T>C (p.Leu2294Pro)
c.6893T>C (p.Leu2298Pro)
c.12104T>C (p.Leu4035Pro)
 gnomAD v4
4g.125468716T>GCA358128582FAT4c.12110T>G (p.Leu4037Arg)
c.6881T>G (p.Leu2294Arg)
c.6893T>G (p.Leu2298Arg)
c.12104T>G (p.Leu4035Arg)
4g.125468717A=CA1491662372FAT4c.12111A= (p.Leu4037=)
c.6882A= (p.Leu2294=)
c.6894A= (p.Leu2298=)
c.12105A= (p.Leu4035=)
4g.125468717A>CCA441372997FAT4c.12111A>C (p.Leu4037=)
c.6882A>C (p.Leu2294=)
c.6894A>C (p.Leu2298=)
c.12105A>C (p.Leu4035=)
4g.125468717A>GCA441372998FAT4c.12111A>G (p.Leu4037=)
c.6882A>G (p.Leu2294=)
c.6894A>G (p.Leu2298=)
c.12105A>G (p.Leu4035=)
 dbSNP gnomAD v2 gnomAD v4
4g.125468717A>TCA441372999FAT4c.12111A>T (p.Leu4037=)
c.6882A>T (p.Leu2294=)
c.6894A>T (p.Leu2298=)
c.12105A>T (p.Leu4035=)
4g.125468718A>CCA441373000FAT4c.12112A>C (p.Arg4038=)
c.6883A>C (p.Arg2295=)
c.6895A>C (p.Arg2299=)
c.12106A>C (p.Arg4036=)
4g.125468718A>GCA358128584FAT4c.12112A>G (p.Arg4038Gly)
c.6883A>G (p.Arg2295Gly)
c.6895A>G (p.Arg2299Gly)
c.12106A>G (p.Arg4036Gly)
4g.125468718A>TCA358128586FAT4c.12112A>T (p.Arg4038Ter)
c.6883A>T (p.Arg2295Ter)
c.6895A>T (p.Arg2299Ter)
c.12106A>T (p.Arg4036Ter)
 COSMIC COSMIC
4g.125468719G>ACA3074012FAT4c.12113G>A (p.Arg4038Lys)
c.6884G>A (p.Arg2295Lys)
c.6896G>A (p.Arg2299Lys)
c.12107G>A (p.Arg4036Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125468719G>CCA358128589FAT4c.12113G>C (p.Arg4038Thr)
c.6884G>C (p.Arg2295Thr)
c.6896G>C (p.Arg2299Thr)
c.12107G>C (p.Arg4036Thr)
4g.125468719G=CA1491662373FAT4c.12113G= (p.Arg4038=)
c.6884G= (p.Arg2295=)
c.6896G= (p.Arg2299=)
c.12107G= (p.Arg4036=)
4g.125468719G>TCA358128592FAT4c.12113G>T (p.Arg4038Ile)
c.6884G>T (p.Arg2295Ile)
c.6896G>T (p.Arg2299Ile)
c.12107G>T (p.Arg4036Ile)
4g.125468720A>CCA358128595FAT4c.12114A>C (p.Arg4038Ser)
c.6885A>C (p.Arg2295Ser)
c.6897A>C (p.Arg2299Ser)
c.12108A>C (p.Arg4036Ser)
4g.125468720A>GCA441373001FAT4c.12114A>G (p.Arg4038=)
c.6885A>G (p.Arg2295=)
c.6897A>G (p.Arg2299=)
c.12108A>G (p.Arg4036=)
 gnomAD v4
4g.125468720A>TCA358128598FAT4c.12114A>T (p.Arg4038Ser)
c.6885A>T (p.Arg2295Ser)
c.6897A>T (p.Arg2299Ser)
c.12108A>T (p.Arg4036Ser)
 gnomAD v4
4g.125468721T>ACA358128605FAT4c.12115T>A (p.Phe4039Ile)
c.6886T>A (p.Phe2296Ile)
c.6898T>A (p.Phe2300Ile)
c.12109T>A (p.Phe4037Ile)
4g.125468721T>CCA358128603FAT4c.12115T>C (p.Phe4039Leu)
c.6886T>C (p.Phe2296Leu)
c.6898T>C (p.Phe2300Leu)
c.12109T>C (p.Phe4037Leu)
4g.125468721T>GCA3074013FAT4c.12115T>G (p.Phe4039Val)
c.6886T>G (p.Phe2296Val)
c.6898T>G (p.Phe2300Val)
c.12109T>G (p.Phe4037Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.125468721T=CA1491662374FAT4c.12115T= (p.Phe4039=)
c.6886T= (p.Phe2296=)
c.6898T= (p.Phe2300=)
c.12109T= (p.Phe4037=)
4g.125468722T>ACA358128609FAT4c.12116T>A (p.Phe4039Tyr)
c.6887T>A (p.Phe2296Tyr)
c.6899T>A (p.Phe2300Tyr)
c.12110T>A (p.Phe4037Tyr)
4g.125468722T>CCA358128611FAT4c.12116T>C (p.Phe4039Ser)
c.6887T>C (p.Phe2296Ser)
c.6899T>C (p.Phe2300Ser)
c.12110T>C (p.Phe4037Ser)
4g.125468722T>GCA358128613FAT4c.12116T>G (p.Phe4039Cys)
c.6887T>G (p.Phe2296Cys)
c.6899T>G (p.Phe2300Cys)
c.12110T>G (p.Phe4037Cys)
4g.125468723C>ACA358128618FAT4c.12117C>A (p.Phe4039Leu)
c.6888C>A (p.Phe2296Leu)
c.6900C>A (p.Phe2300Leu)
c.12111C>A (p.Phe4037Leu)
 COSMIC COSMIC
4g.125468723C=CA1491662375FAT4c.12117C= (p.Phe4039=)
c.6888C= (p.Phe2296=)
c.6900C= (p.Phe2300=)
c.12111C= (p.Phe4037=)
4g.125468723C>GCA358128620FAT4c.12117C>G (p.Phe4039Leu)
c.6888C>G (p.Phe2296Leu)
c.6900C>G (p.Phe2300Leu)
c.12111C>G (p.Phe4037Leu)
4g.125468723C>TCA441373002FAT4c.12117C>T (p.Phe4039=)
c.6888C>T (p.Phe2296=)
c.6900C>T (p.Phe2300=)
c.12111C>T (p.Phe4037=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125468724T>ACA358128622FAT4c.12118T>A (p.Ser4040Thr)
c.6889T>A (p.Ser2297Thr)
c.6901T>A (p.Ser2301Thr)
c.12112T>A (p.Ser4038Thr)
4g.125468724T>CCA358128625FAT4c.12118T>C (p.Ser4040Pro)
c.6889T>C (p.Ser2297Pro)
c.6901T>C (p.Ser2301Pro)
c.12112T>C (p.Ser4038Pro)
4g.125468724T>GCA358128628FAT4c.12118T>G (p.Ser4040Ala)
c.6889T>G (p.Ser2297Ala)
c.6901T>G (p.Ser2301Ala)
c.12112T>G (p.Ser4038Ala)
4g.125468725C>ACA358128631FAT4c.12119C>A (p.Ser4040Tyr)
c.6890C>A (p.Ser2297Tyr)
c.6902C>A (p.Ser2301Tyr)
c.12113C>A (p.Ser4038Tyr)
4g.125468725C=CA1491662376FAT4c.12119C= (p.Ser4040=)
c.6890C= (p.Ser2297=)
c.6902C= (p.Ser2301=)
c.12113C= (p.Ser4038=)
4g.125468725C>GCA358128634FAT4c.12119C>G (p.Ser4040Cys)
c.6890C>G (p.Ser2297Cys)
c.6902C>G (p.Ser2301Cys)
c.12113C>G (p.Ser4038Cys)
4g.125468725C>TCA358128639FAT4c.12119C>T (p.Ser4040Phe)
c.6890C>T (p.Ser2297Phe)
c.6902C>T (p.Ser2301Phe)
c.12113C>T (p.Ser4038Phe)
 dbSNP gnomAD v4
4g.125468726T>ACA441373003FAT4c.12120T>A (p.Ser4040=)
c.6891T>A (p.Ser2297=)
c.6903T>A (p.Ser2301=)
c.12114T>A (p.Ser4038=)
 gnomAD v4
4g.125468726T>CCA441373004FAT4c.12120T>C (p.Ser4040=)
c.6891T>C (p.Ser2297=)
c.6903T>C (p.Ser2301=)
c.12114T>C (p.Ser4038=)
4g.125468726T>GCA441373005FAT4c.12120T>G (p.Ser4040=)
c.6891T>G (p.Ser2297=)
c.6903T>G (p.Ser2301=)
c.12114T>G (p.Ser4038=)
4g.125468727T>ACA358128649FAT4c.12121T>A (p.Tyr4041Asn)
c.6892T>A (p.Tyr2298Asn)
c.6904T>A (p.Tyr2302Asn)
c.12115T>A (p.Tyr4039Asn)
4g.125468727T>CCA358128646FAT4c.12121T>C (p.Tyr4041His)
c.6892T>C (p.Tyr2298His)
c.6904T>C (p.Tyr2302His)
c.12115T>C (p.Tyr4039His)
 gnomAD v4
4g.125468727T>GCA358128643FAT4c.12121T>G (p.Tyr4041Asp)
c.6892T>G (p.Tyr2298Asp)
c.6904T>G (p.Tyr2302Asp)
c.12115T>G (p.Tyr4039Asp)
4g.125468728A=CA1491662377FAT4c.12122A= (p.Tyr4041=)
c.6893A= (p.Tyr2298=)
c.6905A= (p.Tyr2302=)
c.12116A= (p.Tyr4039=)
4g.125468728A>CCA358128655FAT4c.12122A>C (p.Tyr4041Ser)
c.6893A>C (p.Tyr2298Ser)
c.6905A>C (p.Tyr2302Ser)
c.12116A>C (p.Tyr4039Ser)
4g.125468728A>GCA358128659FAT4c.12122A>G (p.Tyr4041Cys)
c.6893A>G (p.Tyr2298Cys)
c.6905A>G (p.Tyr2302Cys)
c.12116A>G (p.Tyr4039Cys)
 dbSNP gnomAD v2 gnomAD v4
4g.125468728A>TCA358128661FAT4c.12122A>T (p.Tyr4041Phe)
c.6893A>T (p.Tyr2298Phe)
c.6905A>T (p.Tyr2302Phe)
c.12116A>T (p.Tyr4039Phe)
4g.125468729T>ACA358128664FAT4c.12123T>A (p.Tyr4041Ter)
c.6894T>A (p.Tyr2298Ter)
c.6906T>A (p.Tyr2302Ter)
c.12117T>A (p.Tyr4039Ter)
4g.125468729T>CCA441373006FAT4c.12123T>C (p.Tyr4041=)
c.6894T>C (p.Tyr2298=)
c.6906T>C (p.Tyr2302=)
c.12117T>C (p.Tyr4039=)
4g.125468729T>GCA358128667FAT4c.12123T>G (p.Tyr4041Ter)
c.6894T>G (p.Tyr2298Ter)
c.6906T>G (p.Tyr2302Ter)
c.12117T>G (p.Tyr4039Ter)
4g.125468730A>CCA358128670FAT4c.12124A>C (p.Asn4042His)
c.6895A>C (p.Asn2299His)
c.6907A>C (p.Asn2303His)
c.12118A>C (p.Asn4040His)
4g.125468730A>GCA358128671FAT4c.12124A>G (p.Asn4042Asp)
c.6895A>G (p.Asn2299Asp)
c.6907A>G (p.Asn2303Asp)
c.12118A>G (p.Asn4040Asp)
 gnomAD v4
4g.125468730A>TCA358128676FAT4c.12124A>T (p.Asn4042Tyr)
c.6895A>T (p.Asn2299Tyr)
c.6907A>T (p.Asn2303Tyr)
c.12118A>T (p.Asn4040Tyr)
4g.125468731A>CCA358128680FAT4c.12125A>C (p.Asn4042Thr)
c.6896A>C (p.Asn2299Thr)
c.6908A>C (p.Asn2303Thr)
c.12119A>C (p.Asn4040Thr)
4g.125468731A>GCA358128682FAT4c.12125A>G (p.Asn4042Ser)
c.6896A>G (p.Asn2299Ser)
c.6908A>G (p.Asn2303Ser)
c.12119A>G (p.Asn4040Ser)
4g.125468731A>TCA358128684FAT4c.12125A>T (p.Asn4042Ile)
c.6896A>T (p.Asn2299Ile)
c.6908A>T (p.Asn2303Ile)
c.12119A>T (p.Asn4040Ile)
4g.125468732T>ACA358128686FAT4c.12126T>A (p.Asn4042Lys)
c.6897T>A (p.Asn2299Lys)
c.6909T>A (p.Asn2303Lys)
c.12120T>A (p.Asn4040Lys)
4g.125468732T>CCA441373007FAT4c.12126T>C (p.Asn4042=)
c.6897T>C (p.Asn2299=)
c.6909T>C (p.Asn2303=)
c.12120T>C (p.Asn4040=)
 gnomAD v4
4g.125468732T>GCA358128689FAT4c.12126T>G (p.Asn4042Lys)
c.6897T>G (p.Asn2299Lys)
c.6909T>G (p.Asn2303Lys)
c.12120T>G (p.Asn4040Lys)
4g.125468733T>ACA358128696FAT4c.12127T>A (p.Leu4043Ile)
c.6898T>A (p.Leu2300Ile)
c.6910T>A (p.Leu2304Ile)
c.12121T>A (p.Leu4041Ile)
4g.125468733T>CCA441373008FAT4c.12127T>C (p.Leu4043=)
c.6898T>C (p.Leu2300=)
c.6910T>C (p.Leu2304=)
c.12121T>C (p.Leu4041=)
4g.125468733T>GCA358128693FAT4c.12127T>G (p.Leu4043Val)
c.6898T>G (p.Leu2300Val)
c.6910T>G (p.Leu2304Val)
c.12121T>G (p.Leu4041Val)
4g.125468734T>ACA358128701FAT4c.12128T>A (p.Leu4043Ter)
c.6899T>A (p.Leu2300Ter)
c.6911T>A (p.Leu2304Ter)
c.12122T>A (p.Leu4041Ter)
4g.125468734T>CCA358128707FAT4c.12128T>C (p.Leu4043Ser)
c.6899T>C (p.Leu2300Ser)
c.6911T>C (p.Leu2304Ser)
c.12122T>C (p.Leu4041Ser)
 dbSNP
4g.125468734T>GCA358128703FAT4c.12128T>G (p.Leu4043Ter)
c.6899T>G (p.Leu2300Ter)
c.6911T>G (p.Leu2304Ter)
c.12122T>G (p.Leu4041Ter)
4g.125468734T=CA1491662378FAT4c.12128T= (p.Leu4043=)
c.6899T= (p.Leu2300=)
c.6911T= (p.Leu2304=)
c.12122T= (p.Leu4041=)
4g.125468735A>CCA358128710FAT4c.12129A>C (p.Leu4043Phe)
c.6900A>C (p.Leu2300Phe)
c.6912A>C (p.Leu2304Phe)
c.12123A>C (p.Leu4041Phe)
4g.125468735A>GCA441373009FAT4c.12129A>G (p.Leu4043=)
c.6900A>G (p.Leu2300=)
c.6912A>G (p.Leu2304=)
c.12123A>G (p.Leu4041=)
4g.125468735A>TCA358128712FAT4c.12129A>T (p.Leu4043Phe)
c.6900A>T (p.Leu2300Phe)
c.6912A>T (p.Leu2304Phe)
c.12123A>T (p.Leu4041Phe)
4g.125468736G>ACA358128717FAT4c.12130G>A (p.Gly4044Ser)
c.6901G>A (p.Gly2301Ser)
c.6913G>A (p.Gly2305Ser)
c.12124G>A (p.Gly4042Ser)
4g.125468736G>CCA358128720FAT4c.12130G>C (p.Gly4044Arg)
c.6901G>C (p.Gly2301Arg)
c.6913G>C (p.Gly2305Arg)
c.12124G>C (p.Gly4042Arg)
4g.125468736G>TCA358128722FAT4c.12130G>T (p.Gly4044Cys)
c.6901G>T (p.Gly2301Cys)
c.6913G>T (p.Gly2305Cys)
c.12124G>T (p.Gly4042Cys)
4g.125468737G>ACA358128727FAT4c.12131G>A (p.Gly4044Asp)
c.6902G>A (p.Gly2301Asp)
c.6914G>A (p.Gly2305Asp)
c.12125G>A (p.Gly4042Asp)
 ClinVar dbSNP
4g.125468737G>CCA3074014FAT4c.12131G>C (p.Gly4044Ala)
c.6902G>C (p.Gly2301Ala)
c.6914G>C (p.Gly2305Ala)
c.12125G>C (p.Gly4042Ala)
 dbSNP ExAC
4g.125468737G=CA1491662379FAT4c.12131G= (p.Gly4044=)
c.6902G= (p.Gly2301=)
c.6914G= (p.Gly2305=)
c.12125G= (p.Gly4042=)
4g.125468737G>TCA358128733FAT4c.12131G>T (p.Gly4044Val)
c.6902G>T (p.Gly2301Val)
c.6914G>T (p.Gly2305Val)
c.12125G>T (p.Gly4042Val)
4g.125468738C>ACA441373010FAT4c.12132C>A (p.Gly4044=)
c.6903C>A (p.Gly2301=)
c.6915C>A (p.Gly2305=)
c.12126C>A (p.Gly4042=)
4g.125468738C>GCA441373012FAT4c.12132C>G (p.Gly4044=)
c.6903C>G (p.Gly2301=)
c.6915C>G (p.Gly2305=)
c.12126C>G (p.Gly4042=)
4g.125468738C>TCA441373011FAT4c.12132C>T (p.Gly4044=)
c.6903C>T (p.Gly2301=)
c.6915C>T (p.Gly2305=)
c.12126C>T (p.Gly4042=)
4g.125468739A>CCA358128736FAT4c.12133A>C (p.Ser4045Arg)
c.6904A>C (p.Ser2302Arg)
c.6916A>C (p.Ser2306Arg)
c.12127A>C (p.Ser4043Arg)
4g.125468739A>GCA358128739FAT4c.12133A>G (p.Ser4045Gly)
c.6904A>G (p.Ser2302Gly)
c.6916A>G (p.Ser2306Gly)
c.12127A>G (p.Ser4043Gly)
4g.125468739A>TCA358128740FAT4c.12133A>T (p.Ser4045Cys)
c.6904A>T (p.Ser2302Cys)
c.6916A>T (p.Ser2306Cys)
c.12127A>T (p.Ser4043Cys)
4g.125468740G>ACA358128748FAT4c.12134G>A (p.Ser4045Asn)
c.6905G>A (p.Ser2302Asn)
c.6917G>A (p.Ser2306Asn)
c.12128G>A (p.Ser4043Asn)
 gnomAD v4
4g.125468740G>CCA358128744FAT4c.12134G>C (p.Ser4045Thr)
c.6905G>C (p.Ser2302Thr)
c.6917G>C (p.Ser2306Thr)
c.12128G>C (p.Ser4043Thr)
4g.125468740G>TCA358128746FAT4c.12134G>T (p.Ser4045Ile)
c.6905G>T (p.Ser2302Ile)
c.6917G>T (p.Ser2306Ile)
c.12128G>T (p.Ser4043Ile)
4g.125468741T>ACA358128750FAT4c.12135T>A (p.Ser4045Arg)
c.6906T>A (p.Ser2302Arg)
c.6918T>A (p.Ser2306Arg)
c.12129T>A (p.Ser4043Arg)
4g.125468741T>CCA441373013FAT4c.12135T>C (p.Ser4045=)
c.6906T>C (p.Ser2302=)
c.6918T>C (p.Ser2306=)
c.12129T>C (p.Ser4043=)
4g.125468741T>GCA358128751FAT4c.12135T>G (p.Ser4045Arg)
c.6906T>G (p.Ser2302Arg)
c.6918T>G (p.Ser2306Arg)
c.12129T>G (p.Ser4043Arg)
4g.125468742G>ACA358128752FAT4c.12136G>A (p.Gly4046Ser)
c.6907G>A (p.Gly2303Ser)
c.6919G>A (p.Gly2307Ser)
c.12130G>A (p.Gly4044Ser)
4g.125468742G>CCA358128753FAT4c.12136G>C (p.Gly4046Arg)
c.6907G>C (p.Gly2303Arg)
c.6919G>C (p.Gly2307Arg)
c.12130G>C (p.Gly4044Arg)
 gnomAD v4
4g.125468742G>TCA358128754FAT4c.12136G>T (p.Gly4046Cys)
c.6907G>T (p.Gly2303Cys)
c.6919G>T (p.Gly2307Cys)
c.12130G>T (p.Gly4044Cys)
 COSMIC COSMIC
4g.125468743G>ACA358128756FAT4c.12137G>A (p.Gly4046Asp)
c.6908G>A (p.Gly2303Asp)
c.6920G>A (p.Gly2307Asp)
c.12131G>A (p.Gly4044Asp)
4g.125468743G>CCA358128759FAT4c.12137G>C (p.Gly4046Ala)
c.6908G>C (p.Gly2303Ala)
c.6920G>C (p.Gly2307Ala)
c.12131G>C (p.Gly4044Ala)
4g.125468743G>TCA358128762FAT4c.12137G>T (p.Gly4046Val)
c.6908G>T (p.Gly2303Val)
c.6920G>T (p.Gly2307Val)
c.12131G>T (p.Gly4044Val)
 COSMIC COSMIC
4g.125468744T>ACA441373014FAT4c.12138T>A (p.Gly4046=)
c.6909T>A (p.Gly2303=)
c.6921T>A (p.Gly2307=)
c.12132T>A (p.Gly4044=)
4g.125468744T>CCA441373016FAT4c.12138T>C (p.Gly4046=)
c.6909T>C (p.Gly2303=)
c.6921T>C (p.Gly2307=)
c.12132T>C (p.Gly4044=)
4g.125468744T>GCA441373015FAT4c.12138T>G (p.Gly4046=)
c.6909T>G (p.Gly2303=)
c.6921T>G (p.Gly2307=)
c.12132T>G (p.Gly4044=)
4g.125468745A=CA1491662380FAT4c.12139A= (p.Thr4047=)
c.6910A= (p.Thr2304=)
c.6922A= (p.Thr2308=)
c.12133A= (p.Thr4045=)
4g.125468745A>CCA104860445FAT4c.12139A>C (p.Thr4047Pro)
c.6910A>C (p.Thr2304Pro)
c.6922A>C (p.Thr2308Pro)
c.12133A>C (p.Thr4045Pro)
 dbSNP gnomAD v4
4g.125468745A>GCA358128767FAT4c.12139A>G (p.Thr4047Ala)
c.6910A>G (p.Thr2304Ala)
c.6922A>G (p.Thr2308Ala)
c.12133A>G (p.Thr4045Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125468745A>TCA358128769FAT4c.12139A>T (p.Thr4047Ser)
c.6910A>T (p.Thr2304Ser)
c.6922A>T (p.Thr2308Ser)
c.12133A>T (p.Thr4045Ser)
4g.125468746C>ACA358128774FAT4c.12140C>A (p.Thr4047Lys)
c.6911C>A (p.Thr2304Lys)
c.6923C>A (p.Thr2308Lys)
c.12134C>A (p.Thr4045Lys)
 gnomAD v4
4g.125468746C=CA1491662381FAT4c.12140C= (p.Thr4047=)
c.6911C= (p.Thr2304=)
c.6923C= (p.Thr2308=)
c.12134C= (p.Thr4045=)
4g.125468746C>GCA358128776FAT4c.12140C>G (p.Thr4047Arg)
c.6911C>G (p.Thr2304Arg)
c.6923C>G (p.Thr2308Arg)
c.12134C>G (p.Thr4045Arg)
4g.125468746C>TCA358128772FAT4c.12140C>T (p.Thr4047Ile)
c.6911C>T (p.Thr2304Ile)
c.6923C>T (p.Thr2308Ile)
c.12134C>T (p.Thr4045Ile)
 dbSNP gnomAD v2 gnomAD v4
4g.125468747A=CA1491662382FAT4c.12141A= (p.Thr4047=)
c.6912A= (p.Thr2304=)
c.6924A= (p.Thr2308=)
c.12135A= (p.Thr4045=)
4g.125468747A>CCA441373017FAT4c.12141A>C (p.Thr4047=)
c.6912A>C (p.Thr2304=)
c.6924A>C (p.Thr2308=)
c.12135A>C (p.Thr4045=)
4g.125468747A>GCA3074015FAT4c.12141A>G (p.Thr4047=)
c.6912A>G (p.Thr2304=)
c.6924A>G (p.Thr2308=)
c.12135A>G (p.Thr4045=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125468747A>TCA441373018FAT4c.12141A>T (p.Thr4047=)
c.6912A>T (p.Thr2304=)
c.6924A>T (p.Thr2308=)
c.12135A>T (p.Thr4045=)
4g.125468748T>ACA358128782FAT4c.12142T>A (p.Tyr4048Asn)
c.6913T>A (p.Tyr2305Asn)
c.6925T>A (p.Tyr2309Asn)
c.12136T>A (p.Tyr4046Asn)
 ClinVar dbSNP
4g.125468748T>CCA358128785FAT4c.12142T>C (p.Tyr4048His)
c.6913T>C (p.Tyr2305His)
c.6925T>C (p.Tyr2309His)
c.12136T>C (p.Tyr4046His)
4g.125468748T>GCA358128788FAT4c.12142T>G (p.Tyr4048Asp)
c.6913T>G (p.Tyr2305Asp)
c.6925T>G (p.Tyr2309Asp)
c.12136T>G (p.Tyr4046Asp)
4g.125468748T=CA1491662383FAT4c.12142T= (p.Tyr4048=)
c.6913T= (p.Tyr2305=)
c.6925T= (p.Tyr2309=)
c.12136T= (p.Tyr4046=)
4g.125468749A>CCA358128791FAT4c.12143A>C (p.Tyr4048Ser)
c.6914A>C (p.Tyr2305Ser)
c.6926A>C (p.Tyr2309Ser)
c.12137A>C (p.Tyr4046Ser)
4g.125468749A>GCA358128794FAT4c.12143A>G (p.Tyr4048Cys)
c.6914A>G (p.Tyr2305Cys)
c.6926A>G (p.Tyr2309Cys)
c.12137A>G (p.Tyr4046Cys)
4g.125468749A>TCA358128797FAT4c.12143A>T (p.Tyr4048Phe)
c.6914A>T (p.Tyr2305Phe)
c.6926A>T (p.Tyr2309Phe)
c.12137A>T (p.Tyr4046Phe)
4g.125468750T>ACA358128798FAT4c.12144T>A (p.Tyr4048Ter)
c.6915T>A (p.Tyr2305Ter)
c.6927T>A (p.Tyr2309Ter)
c.12138T>A (p.Tyr4046Ter)
4g.125468750T>CCA441373019FAT4c.12144T>C (p.Tyr4048=)
c.6915T>C (p.Tyr2305=)
c.6927T>C (p.Tyr2309=)
c.12138T>C (p.Tyr4046=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.125468750T>GCA358128802FAT4c.12144T>G (p.Tyr4048Ter)
c.6915T>G (p.Tyr2305Ter)
c.6927T>G (p.Tyr2309Ter)
c.12138T>G (p.Tyr4046Ter)
4g.125468750T=CA1491662384FAT4c.12144T= (p.Tyr4048=)
c.6915T= (p.Tyr2305=)
c.6927T= (p.Tyr2309=)
c.12138T= (p.Tyr4046=)
4g.125468751A>CCA358128806FAT4c.12145A>C (p.Lys4049Gln)
c.6916A>C (p.Lys2306Gln)
c.6928A>C (p.Lys2310Gln)
c.12139A>C (p.Lys4047Gln)
4g.125468751A>GCA358128808FAT4c.12145A>G (p.Lys4049Glu)
c.6916A>G (p.Lys2306Glu)
c.6928A>G (p.Lys2310Glu)
c.12139A>G (p.Lys4047Glu)
4g.125468751A>TCA358128810FAT4c.12145A>T (p.Lys4049Ter)
c.6916A>T (p.Lys2306Ter)
c.6928A>T (p.Lys2310Ter)
c.12139A>T (p.Lys4047Ter)
4g.125468752A>CCA358128815FAT4c.12146A>C (p.Lys4049Thr)
c.6917A>C (p.Lys2306Thr)
c.6929A>C (p.Lys2310Thr)
c.12140A>C (p.Lys4047Thr)
4g.125468752A>GCA358128818FAT4c.12146A>G (p.Lys4049Arg)
c.6917A>G (p.Lys2306Arg)
c.6929A>G (p.Lys2310Arg)
c.12140A>G (p.Lys4047Arg)
4g.125468752A>TCA358128813FAT4c.12146A>T (p.Lys4049Met)
c.6917A>T (p.Lys2306Met)
c.6929A>T (p.Lys2310Met)
c.12140A>T (p.Lys4047Met)
4g.125468753G>ACA441373020FAT4c.12147G>A (p.Lys4049=)
c.6918G>A (p.Lys2306=)
c.6930G>A (p.Lys2310=)
c.12141G>A (p.Lys4047=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.125468753G>CCA358128821FAT4c.12147G>C (p.Lys4049Asn)
c.6918G>C (p.Lys2306Asn)
c.6930G>C (p.Lys2310Asn)
c.12141G>C (p.Lys4047Asn)
 gnomAD v4
4g.125468753G=CA1491662385FAT4c.12147G= (p.Lys4049=)
c.6918G= (p.Lys2306=)
c.6930G= (p.Lys2310=)
c.12141G= (p.Lys4047=)
4g.125468753G>TCA358128824FAT4c.12147G>T (p.Lys4049Asn)
c.6918G>T (p.Lys2306Asn)
c.6930G>T (p.Lys2310Asn)
c.12141G>T (p.Lys4047Asn)
 dbSNP gnomAD v4

Number of alleles fetched